Incidental Mutation 'R1728:Dnah17'
ID |
198600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dnah17
|
Ensembl Gene |
ENSMUSG00000033987 |
Gene Name |
dynein, axonemal, heavy chain 17 |
Synonyms |
Dnahcl1, LOC382552, 2810003K23Rik, Dnahc17 |
MMRRC Submission |
039760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1728 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
117912549-118021460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 117960345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 2572
(C2572Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084803]
[ENSMUST00000106308]
[ENSMUST00000132685]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084803
AA Change: C2572Y
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000081864 Gene: ENSMUSG00000033987 AA Change: C2572Y
Domain | Start | End | E-Value | Type |
Pfam:DHC_N1
|
183 |
766 |
8.5e-142 |
PFAM |
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
Pfam:DHC_N2
|
1260 |
1673 |
5.8e-135 |
PFAM |
Pfam:AAA_6
|
1793 |
2023 |
6e-161 |
PFAM |
low complexity region
|
2092 |
2104 |
N/A |
INTRINSIC |
Pfam:AAA_5
|
2107 |
2243 |
7.8e-13 |
PFAM |
Pfam:AAA_7
|
2400 |
2671 |
1.1e-171 |
PFAM |
Pfam:AAA_8
|
2748 |
3015 |
4.9e-166 |
PFAM |
Pfam:MT
|
3027 |
3370 |
3.4e-214 |
PFAM |
Pfam:AAA_9
|
3388 |
3615 |
2.4e-144 |
PFAM |
Pfam:Dynein_heavy
|
3742 |
4452 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106308
AA Change: C2572Y
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101915 Gene: ENSMUSG00000033987 AA Change: C2572Y
Domain | Start | End | E-Value | Type |
Pfam:DHC_N1
|
184 |
764 |
1.7e-152 |
PFAM |
low complexity region
|
1015 |
1028 |
N/A |
INTRINSIC |
Pfam:DHC_N2
|
1262 |
1671 |
4.1e-132 |
PFAM |
Pfam:AAA_6
|
1793 |
2023 |
7e-149 |
PFAM |
low complexity region
|
2092 |
2104 |
N/A |
INTRINSIC |
Pfam:AAA_5
|
2107 |
2243 |
2.5e-11 |
PFAM |
Pfam:AAA_7
|
2400 |
2671 |
4.4e-169 |
PFAM |
Pfam:AAA_8
|
2748 |
3015 |
7.1e-163 |
PFAM |
Pfam:MT
|
3027 |
3370 |
1.1e-210 |
PFAM |
Pfam:AAA_9
|
3392 |
3614 |
1e-84 |
PFAM |
Pfam:Dynein_heavy
|
3748 |
4479 |
3.5e-230 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132685
AA Change: C2585Y
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000120542 Gene: ENSMUSG00000033987 AA Change: C2585Y
Domain | Start | End | E-Value | Type |
Pfam:DHC_N2
|
279 |
688 |
3.1e-132 |
PFAM |
Pfam:AAA_6
|
811 |
1041 |
5.3e-149 |
PFAM |
low complexity region
|
1110 |
1122 |
N/A |
INTRINSIC |
Blast:AAA
|
1123 |
1354 |
1e-104 |
BLAST |
Pfam:AAA_7
|
1452 |
1671 |
8.9e-134 |
PFAM |
Pfam:AAA_8
|
1763 |
2030 |
5.4e-163 |
PFAM |
Pfam:MT
|
2042 |
2168 |
6.8e-52 |
PFAM |
Pfam:MT
|
2163 |
2412 |
8.2e-149 |
PFAM |
Pfam:AAA_9
|
2434 |
2656 |
7.9e-85 |
PFAM |
Pfam:Dynein_heavy
|
2790 |
3457 |
2.6e-209 |
PFAM |
Pfam:Dynein_heavy
|
3460 |
3569 |
4.6e-17 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 223 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
G |
A |
15: 37,439,844 (GRCm39) |
|
probably benign |
Het |
Aadat |
A |
G |
8: 60,979,746 (GRCm39) |
T203A |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,199,680 (GRCm39) |
F104L |
probably benign |
Het |
Acox1 |
T |
A |
11: 116,089,109 (GRCm39) |
|
probably null |
Het |
Adam34l |
T |
C |
8: 44,078,620 (GRCm39) |
N535D |
probably damaging |
Het |
Adamts17 |
C |
T |
7: 66,799,704 (GRCm39) |
R1060* |
probably null |
Het |
Adgrg6 |
T |
C |
10: 14,315,526 (GRCm39) |
T593A |
probably damaging |
Het |
Ankrd12 |
G |
T |
17: 66,291,071 (GRCm39) |
P1454Q |
probably benign |
Het |
Ap2m1 |
T |
A |
16: 20,358,088 (GRCm39) |
N35K |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,401,312 (GRCm39) |
I1111V |
probably benign |
Het |
Atr |
G |
A |
9: 95,779,634 (GRCm39) |
V1331I |
probably benign |
Het |
Bola1 |
C |
T |
3: 96,104,426 (GRCm39) |
G56D |
probably benign |
Het |
Brsk1 |
A |
G |
7: 4,707,218 (GRCm39) |
D257G |
probably damaging |
Het |
C4bp |
C |
G |
1: 130,570,725 (GRCm39) |
V284L |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,046,454 (GRCm39) |
F1761S |
probably benign |
Het |
Camsap2 |
C |
T |
1: 136,209,053 (GRCm39) |
R802Q |
probably benign |
Het |
Cbs |
G |
T |
17: 31,839,923 (GRCm39) |
A337E |
probably benign |
Het |
Ccdc186 |
A |
C |
19: 56,797,652 (GRCm39) |
H306Q |
probably benign |
Het |
Ccdc93 |
T |
C |
1: 121,389,668 (GRCm39) |
V237A |
probably benign |
Het |
Ccdc93 |
C |
T |
1: 121,383,855 (GRCm39) |
P192L |
probably benign |
Het |
Cd55 |
C |
T |
1: 130,377,160 (GRCm39) |
V333I |
probably benign |
Het |
Cd55 |
C |
A |
1: 130,387,370 (GRCm39) |
A143S |
probably benign |
Het |
Cdh19 |
C |
A |
1: 110,821,114 (GRCm39) |
E541D |
probably damaging |
Het |
Cdh20 |
C |
G |
1: 109,993,465 (GRCm39) |
L307V |
possibly damaging |
Het |
Cfh |
C |
T |
1: 140,075,435 (GRCm39) |
V268I |
possibly damaging |
Het |
Cfhr2 |
A |
G |
1: 139,741,180 (GRCm39) |
M265T |
probably benign |
Het |
Cfhr2 |
A |
C |
1: 139,741,197 (GRCm39) |
N259K |
probably benign |
Het |
Chi3l1 |
C |
T |
1: 134,116,267 (GRCm39) |
A250V |
probably damaging |
Het |
Chrnb1 |
C |
A |
11: 69,676,588 (GRCm39) |
D388Y |
probably damaging |
Het |
Clcn1 |
T |
A |
6: 42,276,448 (GRCm39) |
F360Y |
possibly damaging |
Het |
Clgn |
A |
G |
8: 84,149,659 (GRCm39) |
S387G |
probably damaging |
Het |
Cntnap5a |
C |
T |
1: 116,382,873 (GRCm39) |
T1047I |
probably benign |
Het |
Cntnap5a |
C |
A |
1: 116,382,734 (GRCm39) |
L1001I |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,382,831 (GRCm39) |
L1033S |
probably benign |
Het |
Coil |
G |
A |
11: 88,864,802 (GRCm39) |
V10I |
probably damaging |
Het |
Col4a1 |
G |
A |
8: 11,262,712 (GRCm39) |
P1256S |
possibly damaging |
Het |
Copa |
T |
A |
1: 171,939,554 (GRCm39) |
F597Y |
probably benign |
Het |
Crb1 |
G |
A |
1: 139,168,876 (GRCm39) |
P881S |
probably damaging |
Het |
Crb1 |
C |
T |
1: 139,170,733 (GRCm39) |
G825R |
probably damaging |
Het |
Crb1 |
C |
T |
1: 139,171,155 (GRCm39) |
R684H |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,162,517 (GRCm39) |
M1214V |
probably benign |
Het |
Crb1 |
A |
T |
1: 139,165,360 (GRCm39) |
H921Q |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,880,015 (GRCm39) |
Q391L |
probably damaging |
Het |
Cspg4 |
G |
T |
9: 56,805,821 (GRCm39) |
V2211L |
probably benign |
Het |
Cxcr4 |
C |
T |
1: 128,517,014 (GRCm39) |
V216I |
probably benign |
Het |
Cyb5r1 |
C |
T |
1: 134,335,405 (GRCm39) |
R147W |
probably damaging |
Het |
Ddx59 |
T |
C |
1: 136,344,791 (GRCm39) |
V154A |
probably benign |
Het |
Dhx30 |
T |
C |
9: 109,927,819 (GRCm39) |
H101R |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,880,666 (GRCm39) |
D3818V |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
Dsel |
G |
C |
1: 111,787,724 (GRCm39) |
T937S |
probably benign |
Het |
Dstyk |
C |
T |
1: 132,384,722 (GRCm39) |
L739F |
probably damaging |
Het |
Ehf |
T |
G |
2: 103,104,251 (GRCm39) |
T186P |
possibly damaging |
Het |
En1 |
A |
G |
1: 120,531,350 (GRCm39) |
S197G |
unknown |
Het |
Etnk2 |
C |
A |
1: 133,293,325 (GRCm39) |
D89E |
probably benign |
Het |
Etnk2 |
G |
T |
1: 133,293,503 (GRCm39) |
G149W |
probably damaging |
Het |
Etnk2 |
C |
T |
1: 133,293,554 (GRCm39) |
R166* |
probably null |
Het |
Etnk2 |
G |
A |
1: 133,293,555 (GRCm39) |
R166Q |
probably benign |
Het |
Etnk2 |
T |
A |
1: 133,304,653 (GRCm39) |
V292E |
probably benign |
Het |
Fam187b |
C |
T |
7: 30,688,445 (GRCm39) |
Q268* |
probably null |
Het |
Fam72a |
C |
T |
1: 131,466,633 (GRCm39) |
T139M |
probably benign |
Het |
Fam72a |
T |
C |
1: 131,458,406 (GRCm39) |
I56T |
probably benign |
Het |
Fat3 |
A |
C |
9: 15,907,611 (GRCm39) |
V2797G |
possibly damaging |
Het |
Fcamr |
A |
C |
1: 130,732,364 (GRCm39) |
N117T |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,739,317 (GRCm39) |
I206V |
probably benign |
Het |
Fcamr |
G |
A |
1: 130,740,366 (GRCm39) |
G262S |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,740,429 (GRCm39) |
I283V |
probably benign |
Het |
Fcamr |
T |
C |
1: 130,740,475 (GRCm39) |
V298A |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,740,546 (GRCm39) |
M322V |
probably benign |
Het |
Fcamr |
C |
T |
1: 130,740,553 (GRCm39) |
P324L |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,742,334 (GRCm39) |
N574D |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,732,306 (GRCm39) |
R98G |
probably benign |
Het |
Fcmr |
T |
C |
1: 130,806,006 (GRCm39) |
S321P |
probably benign |
Het |
Fcmr |
A |
G |
1: 130,803,711 (GRCm39) |
T172A |
probably benign |
Het |
Fut10 |
T |
A |
8: 31,691,418 (GRCm39) |
S88T |
probably benign |
Het |
Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
Gli2 |
G |
T |
1: 118,929,774 (GRCm39) |
H44Q |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,795,817 (GRCm39) |
A113T |
possibly damaging |
Het |
Glrx2 |
C |
T |
1: 143,615,478 (GRCm39) |
A27V |
possibly damaging |
Het |
Gm28040 |
AGTG |
AGTGGCACCTTTGGTG |
1: 133,255,059 (GRCm39) |
|
probably benign |
Het |
Gpr25 |
G |
A |
1: 136,188,448 (GRCm39) |
P55L |
probably benign |
Het |
Gse1 |
G |
A |
8: 121,294,992 (GRCm39) |
|
probably benign |
Het |
Heatr4 |
T |
C |
12: 84,014,346 (GRCm39) |
I630M |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,439,902 (GRCm39) |
Y1134F |
possibly damaging |
Het |
Igfn1 |
G |
A |
1: 135,887,666 (GRCm39) |
P2466L |
probably damaging |
Het |
Igfn1 |
C |
T |
1: 135,899,865 (GRCm39) |
R482Q |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,898,149 (GRCm39) |
S806G |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,895,937 (GRCm39) |
A1543V |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,907,653 (GRCm39) |
A231T |
probably benign |
Het |
Igfn1 |
G |
A |
1: 135,910,213 (GRCm39) |
R124W |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,926,421 (GRCm39) |
I10V |
unknown |
Het |
Ikbke |
T |
C |
1: 131,197,560 (GRCm39) |
S447G |
probably benign |
Het |
Ikbke |
C |
A |
1: 131,193,674 (GRCm39) |
A459S |
probably benign |
Het |
Ildr1 |
A |
T |
16: 36,528,698 (GRCm39) |
T48S |
possibly damaging |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
Ipo9 |
CTC |
CTCTTC |
1: 135,314,009 (GRCm39) |
|
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,945,526 (GRCm39) |
F749S |
probably benign |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,184,465 (GRCm39) |
D86G |
probably benign |
Het |
Kcnt2 |
G |
A |
1: 140,282,285 (GRCm39) |
S90N |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,396,713 (GRCm39) |
K340E |
probably damaging |
Het |
Kif14 |
G |
A |
1: 136,406,103 (GRCm39) |
A556T |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,418,070 (GRCm39) |
S868G |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,431,169 (GRCm39) |
L1189F |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,443,699 (GRCm39) |
F1291L |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,453,521 (GRCm39) |
V1433A |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,396,017 (GRCm39) |
N108D |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,272,179 (GRCm39) |
T1541A |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,087,859 (GRCm39) |
I983V |
possibly damaging |
Het |
Kif26a |
T |
C |
12: 112,143,219 (GRCm39) |
S1158P |
possibly damaging |
Het |
Kmt2d |
A |
G |
15: 98,763,013 (GRCm39) |
C279R |
probably damaging |
Het |
Kpna3 |
T |
A |
14: 61,605,150 (GRCm39) |
E499V |
probably benign |
Het |
Krt16 |
T |
C |
11: 100,138,533 (GRCm39) |
E205G |
probably damaging |
Het |
Lad1 |
C |
T |
1: 135,755,761 (GRCm39) |
R346C |
probably damaging |
Het |
Lad1 |
C |
T |
1: 135,755,119 (GRCm39) |
P132S |
possibly damaging |
Het |
Lax1 |
T |
C |
1: 133,608,307 (GRCm39) |
N145D |
probably benign |
Het |
Lax1 |
G |
A |
1: 133,611,372 (GRCm39) |
P67S |
probably damaging |
Het |
Lax1 |
T |
C |
1: 133,607,716 (GRCm39) |
R342G |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,914,826 (GRCm39) |
V641I |
probably benign |
Het |
Lgr6 |
G |
T |
1: 134,918,373 (GRCm39) |
H263N |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,931,214 (GRCm39) |
S3N |
probably benign |
Het |
Lmod1 |
C |
T |
1: 135,291,811 (GRCm39) |
T222I |
probably benign |
Het |
Mb21d2 |
A |
G |
16: 28,647,173 (GRCm39) |
V267A |
probably benign |
Het |
Mfrp |
A |
G |
9: 44,015,884 (GRCm39) |
T334A |
possibly damaging |
Het |
Morc1 |
T |
A |
16: 48,432,660 (GRCm39) |
D709E |
probably benign |
Het |
Mrgpra2b |
A |
G |
7: 47,114,627 (GRCm39) |
I35T |
probably benign |
Het |
Mroh3 |
G |
C |
1: 136,119,882 (GRCm39) |
Q440E |
possibly damaging |
Het |
Mybph |
C |
T |
1: 134,125,218 (GRCm39) |
R249C |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,392,614 (GRCm39) |
C3206S |
probably damaging |
Het |
Nav1 |
A |
T |
1: 135,512,465 (GRCm39) |
D198E |
possibly damaging |
Het |
Ndufaf7 |
A |
T |
17: 79,245,058 (GRCm39) |
K59M |
probably damaging |
Het |
Necab3 |
T |
C |
2: 154,388,795 (GRCm39) |
S208G |
probably benign |
Het |
Nr5a2 |
C |
A |
1: 136,879,863 (GRCm39) |
R35L |
probably benign |
Het |
Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
Optc |
C |
G |
1: 133,832,908 (GRCm39) |
S64T |
probably benign |
Het |
Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
Or3a1c |
A |
G |
11: 74,046,802 (GRCm39) |
D274G |
probably damaging |
Het |
Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
Or5m13b |
T |
A |
2: 85,754,466 (GRCm39) |
L285I |
possibly damaging |
Het |
Or8b12i |
A |
T |
9: 20,082,209 (GRCm39) |
Y219* |
probably null |
Het |
Otoa |
T |
C |
7: 120,724,662 (GRCm39) |
V447A |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,311,728 (GRCm39) |
N319D |
probably benign |
Het |
Patj |
G |
A |
4: 98,320,017 (GRCm39) |
G428D |
possibly damaging |
Het |
Pcdhb3 |
G |
A |
18: 37,434,931 (GRCm39) |
G299D |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,159,404 (GRCm39) |
D432G |
probably damaging |
Het |
Pde5a |
G |
T |
3: 122,541,889 (GRCm39) |
L126F |
probably damaging |
Het |
Pigr |
C |
T |
1: 130,772,259 (GRCm39) |
A159V |
possibly damaging |
Het |
Pik3c2b |
C |
T |
1: 132,994,365 (GRCm39) |
P110S |
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,115,559 (GRCm39) |
|
probably null |
Het |
Plec |
C |
A |
15: 76,061,892 (GRCm39) |
E2547* |
probably null |
Het |
Plekha6 |
C |
G |
1: 133,215,584 (GRCm39) |
T792S |
probably benign |
Het |
Ppfia4 |
G |
A |
1: 134,227,059 (GRCm39) |
P1159S |
probably benign |
Het |
Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
Prrx1 |
T |
A |
1: 163,089,536 (GRCm39) |
N97I |
probably damaging |
Het |
Ptpn7 |
A |
G |
1: 135,062,213 (GRCm39) |
Q53R |
probably benign |
Het |
Ptprc |
A |
G |
1: 138,035,575 (GRCm39) |
V400A |
probably benign |
Het |
Ptprc |
C |
A |
1: 138,035,562 (GRCm39) |
E402D |
probably benign |
Het |
Ptprc |
A |
G |
1: 138,035,561 (GRCm39) |
S405P |
probably benign |
Het |
Ptprc |
T |
G |
1: 138,027,414 (GRCm39) |
N478T |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,039,992 (GRCm39) |
K212E |
possibly damaging |
Het |
Rab29 |
A |
G |
1: 131,799,848 (GRCm39) |
Q141R |
probably benign |
Het |
Rbsn |
A |
T |
6: 92,167,000 (GRCm39) |
L548Q |
possibly damaging |
Het |
Ren1 |
C |
T |
1: 133,281,975 (GRCm39) |
T32I |
probably benign |
Het |
Ren1 |
T |
A |
1: 133,281,944 (GRCm39) |
W22R |
probably damaging |
Het |
Ren1 |
C |
G |
1: 133,287,745 (GRCm39) |
L360V |
probably benign |
Het |
Ren1 |
A |
T |
1: 133,287,721 (GRCm39) |
N352Y |
probably benign |
Het |
Ren1 |
A |
T |
1: 133,286,817 (GRCm39) |
E315D |
probably benign |
Het |
Ren1 |
C |
A |
1: 133,286,720 (GRCm39) |
|
probably null |
Het |
Ren1 |
A |
C |
1: 133,284,195 (GRCm39) |
K187Q |
probably benign |
Het |
Rnpep |
C |
T |
1: 135,190,834 (GRCm39) |
A571T |
possibly damaging |
Het |
Rnpep |
G |
C |
1: 135,211,715 (GRCm39) |
A11G |
probably benign |
Het |
Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
Ro60 |
C |
T |
1: 143,635,752 (GRCm39) |
V465I |
probably benign |
Het |
Ryr2 |
C |
T |
13: 11,602,308 (GRCm39) |
V4525M |
possibly damaging |
Het |
Sctr |
G |
A |
1: 119,990,987 (GRCm39) |
S440N |
possibly damaging |
Het |
Sctr |
T |
C |
1: 119,959,386 (GRCm39) |
F110L |
probably benign |
Het |
Serpinb10 |
C |
T |
1: 107,466,203 (GRCm39) |
S63F |
probably damaging |
Het |
Serpinb2 |
G |
A |
1: 107,443,365 (GRCm39) |
A55T |
probably damaging |
Het |
Serpinb2 |
A |
C |
1: 107,452,273 (GRCm39) |
S284R |
probably benign |
Het |
Serpinb2 |
C |
T |
1: 107,451,624 (GRCm39) |
T259I |
probably benign |
Het |
Serpinb2 |
C |
T |
1: 107,451,620 (GRCm39) |
H258Y |
probably benign |
Het |
Serpinb2 |
C |
A |
1: 107,451,564 (GRCm39) |
A239E |
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,525,257 (GRCm39) |
S20G |
probably benign |
Het |
Serpinb8 |
A |
C |
1: 107,534,734 (GRCm39) |
L268F |
probably benign |
Het |
Serpinb8 |
G |
A |
1: 107,526,684 (GRCm39) |
A75T |
probably benign |
Het |
Sis |
A |
T |
3: 72,872,978 (GRCm39) |
C53* |
probably null |
Het |
Slc13a5 |
C |
T |
11: 72,157,285 (GRCm39) |
|
probably null |
Het |
Slc26a9 |
C |
T |
1: 131,691,608 (GRCm39) |
A617V |
probably benign |
Het |
Slc26a9 |
C |
A |
1: 131,693,750 (GRCm39) |
R747S |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,266,065 (GRCm39) |
F14S |
probably benign |
Het |
Spock3 |
T |
C |
8: 63,802,011 (GRCm39) |
L330P |
probably damaging |
Het |
Stab2 |
T |
G |
10: 86,773,903 (GRCm39) |
R809S |
probably benign |
Het |
Steap3 |
T |
C |
1: 120,155,480 (GRCm39) |
N493S |
probably benign |
Het |
Steap3 |
G |
A |
1: 120,162,108 (GRCm39) |
A350V |
probably benign |
Het |
Tecta |
G |
A |
9: 42,303,218 (GRCm39) |
T138I |
probably benign |
Het |
Thsd7b |
G |
C |
1: 129,605,920 (GRCm39) |
A554P |
probably benign |
Het |
Thsd7b |
A |
C |
1: 130,044,368 (GRCm39) |
Q1116P |
probably benign |
Het |
Thsd7b |
C |
T |
1: 129,556,628 (GRCm39) |
T328I |
probably damaging |
Het |
Thsd7b |
T |
A |
1: 129,595,674 (GRCm39) |
F498Y |
probably benign |
Het |
Tnnt2 |
C |
T |
1: 135,773,244 (GRCm39) |
|
probably benign |
Het |
Traf7 |
A |
G |
17: 24,731,353 (GRCm39) |
F228L |
probably damaging |
Het |
Trhr |
A |
G |
15: 44,060,549 (GRCm39) |
E23G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,577,968 (GRCm39) |
T779A |
probably benign |
Het |
Tusc2 |
A |
T |
9: 107,441,830 (GRCm39) |
I68F |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,899,905 (GRCm39) |
A149V |
probably benign |
Het |
Upf2 |
A |
T |
2: 6,032,261 (GRCm39) |
S191C |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,217,618 (GRCm39) |
N447S |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,700,381 (GRCm39) |
D1214G |
probably damaging |
Het |
Vcam1 |
T |
A |
3: 115,908,164 (GRCm39) |
I633L |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,507,086 (GRCm39) |
Y742C |
probably damaging |
Het |
Vmn2r81 |
C |
A |
10: 79,106,489 (GRCm39) |
T489K |
probably benign |
Het |
Ypel1 |
C |
G |
16: 16,907,283 (GRCm39) |
|
probably benign |
Het |
Zan |
C |
A |
5: 137,413,280 (GRCm39) |
|
probably benign |
Het |
Zc3h11a |
C |
T |
1: 133,552,359 (GRCm39) |
V583I |
probably benign |
Het |
Zc3h11a |
G |
A |
1: 133,549,892 (GRCm39) |
P695S |
probably benign |
Het |
Zfp616 |
A |
C |
11: 73,976,597 (GRCm39) |
K955N |
probably damaging |
Het |
Zfyve9 |
A |
C |
4: 108,575,698 (GRCm39) |
V461G |
possibly damaging |
Het |
Zp3r |
A |
G |
1: 130,524,551 (GRCm39) |
L164P |
probably benign |
Het |
Zp3r |
C |
A |
1: 130,547,151 (GRCm39) |
E8D |
possibly damaging |
Het |
|
Other mutations in Dnah17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Dnah17
|
APN |
11 |
117,979,040 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL00531:Dnah17
|
APN |
11 |
117,933,999 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL00764:Dnah17
|
APN |
11 |
117,987,311 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00795:Dnah17
|
APN |
11 |
117,984,460 (GRCm39) |
missense |
probably benign |
0.35 |
IGL00823:Dnah17
|
APN |
11 |
117,937,987 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01145:Dnah17
|
APN |
11 |
117,937,999 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01433:Dnah17
|
APN |
11 |
117,940,760 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01454:Dnah17
|
APN |
11 |
117,949,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01545:Dnah17
|
APN |
11 |
118,010,394 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01548:Dnah17
|
APN |
11 |
117,989,438 (GRCm39) |
missense |
probably benign |
0.21 |
IGL01557:Dnah17
|
APN |
11 |
117,964,512 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01632:Dnah17
|
APN |
11 |
117,924,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01636:Dnah17
|
APN |
11 |
117,931,882 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01672:Dnah17
|
APN |
11 |
117,932,986 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01822:Dnah17
|
APN |
11 |
117,972,819 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01869:Dnah17
|
APN |
11 |
117,943,502 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01916:Dnah17
|
APN |
11 |
118,016,114 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02131:Dnah17
|
APN |
11 |
117,963,734 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02154:Dnah17
|
APN |
11 |
118,015,087 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02220:Dnah17
|
APN |
11 |
117,963,793 (GRCm39) |
nonsense |
probably null |
|
IGL02454:Dnah17
|
APN |
11 |
117,971,593 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02458:Dnah17
|
APN |
11 |
117,927,176 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02588:Dnah17
|
APN |
11 |
117,916,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02865:Dnah17
|
APN |
11 |
117,964,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02881:Dnah17
|
APN |
11 |
117,932,944 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02952:Dnah17
|
APN |
11 |
117,979,094 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03382:Dnah17
|
APN |
11 |
117,972,769 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03389:Dnah17
|
APN |
11 |
117,985,805 (GRCm39) |
missense |
probably damaging |
1.00 |
ergos
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
watt
|
UTSW |
11 |
117,971,592 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4280001:Dnah17
|
UTSW |
11 |
117,989,408 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0004:Dnah17
|
UTSW |
11 |
117,950,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0112:Dnah17
|
UTSW |
11 |
117,965,260 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0116:Dnah17
|
UTSW |
11 |
117,949,132 (GRCm39) |
missense |
probably benign |
0.01 |
R0157:Dnah17
|
UTSW |
11 |
118,017,997 (GRCm39) |
missense |
probably benign |
|
R0320:Dnah17
|
UTSW |
11 |
117,943,500 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0362:Dnah17
|
UTSW |
11 |
117,989,365 (GRCm39) |
missense |
probably benign |
0.10 |
R0382:Dnah17
|
UTSW |
11 |
118,019,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Dnah17
|
UTSW |
11 |
117,958,373 (GRCm39) |
missense |
probably benign |
|
R0400:Dnah17
|
UTSW |
11 |
117,972,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Dnah17
|
UTSW |
11 |
117,930,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0483:Dnah17
|
UTSW |
11 |
117,937,950 (GRCm39) |
missense |
probably benign |
|
R0533:Dnah17
|
UTSW |
11 |
118,001,363 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0562:Dnah17
|
UTSW |
11 |
117,963,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0564:Dnah17
|
UTSW |
11 |
117,973,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R0604:Dnah17
|
UTSW |
11 |
118,012,297 (GRCm39) |
missense |
probably benign |
0.00 |
R0608:Dnah17
|
UTSW |
11 |
117,981,575 (GRCm39) |
nonsense |
probably null |
|
R0614:Dnah17
|
UTSW |
11 |
117,961,394 (GRCm39) |
splice site |
probably benign |
|
R0632:Dnah17
|
UTSW |
11 |
117,958,508 (GRCm39) |
splice site |
probably benign |
|
R0831:Dnah17
|
UTSW |
11 |
117,951,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R0838:Dnah17
|
UTSW |
11 |
117,950,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R0879:Dnah17
|
UTSW |
11 |
117,947,661 (GRCm39) |
splice site |
probably benign |
|
R1061:Dnah17
|
UTSW |
11 |
117,943,514 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1190:Dnah17
|
UTSW |
11 |
117,933,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R1293:Dnah17
|
UTSW |
11 |
118,017,963 (GRCm39) |
critical splice donor site |
probably null |
|
R1297:Dnah17
|
UTSW |
11 |
118,012,192 (GRCm39) |
splice site |
probably benign |
|
R1332:Dnah17
|
UTSW |
11 |
117,934,041 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1336:Dnah17
|
UTSW |
11 |
117,934,041 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1364:Dnah17
|
UTSW |
11 |
118,016,432 (GRCm39) |
splice site |
probably benign |
|
R1418:Dnah17
|
UTSW |
11 |
117,964,849 (GRCm39) |
missense |
probably damaging |
0.98 |
R1432:Dnah17
|
UTSW |
11 |
117,914,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Dnah17
|
UTSW |
11 |
118,005,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1500:Dnah17
|
UTSW |
11 |
117,991,879 (GRCm39) |
missense |
probably benign |
|
R1506:Dnah17
|
UTSW |
11 |
118,016,213 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1512:Dnah17
|
UTSW |
11 |
117,985,841 (GRCm39) |
missense |
probably benign |
|
R1567:Dnah17
|
UTSW |
11 |
118,016,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Dnah17
|
UTSW |
11 |
117,994,324 (GRCm39) |
splice site |
probably benign |
|
R1665:Dnah17
|
UTSW |
11 |
118,012,321 (GRCm39) |
splice site |
probably benign |
|
R1703:Dnah17
|
UTSW |
11 |
117,917,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Dnah17
|
UTSW |
11 |
117,923,424 (GRCm39) |
missense |
probably benign |
0.00 |
R1727:Dnah17
|
UTSW |
11 |
117,987,362 (GRCm39) |
nonsense |
probably null |
|
R1727:Dnah17
|
UTSW |
11 |
117,961,315 (GRCm39) |
missense |
probably damaging |
0.98 |
R1784:Dnah17
|
UTSW |
11 |
117,960,345 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1852:Dnah17
|
UTSW |
11 |
118,012,742 (GRCm39) |
missense |
probably damaging |
0.97 |
R1869:Dnah17
|
UTSW |
11 |
117,938,015 (GRCm39) |
nonsense |
probably null |
|
R1886:Dnah17
|
UTSW |
11 |
117,998,987 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1893:Dnah17
|
UTSW |
11 |
117,957,794 (GRCm39) |
missense |
probably benign |
0.00 |
R1954:Dnah17
|
UTSW |
11 |
117,915,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R1969:Dnah17
|
UTSW |
11 |
117,995,361 (GRCm39) |
missense |
probably benign |
0.00 |
R1971:Dnah17
|
UTSW |
11 |
117,995,361 (GRCm39) |
missense |
probably benign |
0.00 |
R1975:Dnah17
|
UTSW |
11 |
117,987,362 (GRCm39) |
nonsense |
probably null |
|
R1977:Dnah17
|
UTSW |
11 |
118,003,417 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2055:Dnah17
|
UTSW |
11 |
117,958,357 (GRCm39) |
missense |
probably benign |
0.00 |
R2115:Dnah17
|
UTSW |
11 |
118,010,628 (GRCm39) |
missense |
probably benign |
0.00 |
R2132:Dnah17
|
UTSW |
11 |
117,924,573 (GRCm39) |
missense |
probably damaging |
0.98 |
R2200:Dnah17
|
UTSW |
11 |
117,993,235 (GRCm39) |
splice site |
probably benign |
|
R2277:Dnah17
|
UTSW |
11 |
117,987,387 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2279:Dnah17
|
UTSW |
11 |
117,987,387 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2400:Dnah17
|
UTSW |
11 |
118,017,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2402:Dnah17
|
UTSW |
11 |
118,016,800 (GRCm39) |
missense |
probably benign |
0.10 |
R2497:Dnah17
|
UTSW |
11 |
117,977,850 (GRCm39) |
splice site |
probably null |
|
R2923:Dnah17
|
UTSW |
11 |
117,984,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R3121:Dnah17
|
UTSW |
11 |
117,931,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:Dnah17
|
UTSW |
11 |
117,985,680 (GRCm39) |
missense |
probably benign |
0.08 |
R3237:Dnah17
|
UTSW |
11 |
117,985,680 (GRCm39) |
missense |
probably benign |
0.08 |
R3498:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3499:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3746:Dnah17
|
UTSW |
11 |
117,973,742 (GRCm39) |
missense |
probably benign |
0.00 |
R3749:Dnah17
|
UTSW |
11 |
117,973,742 (GRCm39) |
missense |
probably benign |
0.00 |
R3762:Dnah17
|
UTSW |
11 |
117,995,352 (GRCm39) |
missense |
probably benign |
0.00 |
R3826:Dnah17
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
R3828:Dnah17
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
R3829:Dnah17
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
R3877:Dnah17
|
UTSW |
11 |
117,915,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R3899:Dnah17
|
UTSW |
11 |
117,985,634 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3900:Dnah17
|
UTSW |
11 |
117,985,634 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3911:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3913:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3930:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3931:Dnah17
|
UTSW |
11 |
117,971,675 (GRCm39) |
splice site |
probably benign |
|
R3969:Dnah17
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
R3970:Dnah17
|
UTSW |
11 |
117,931,984 (GRCm39) |
splice site |
probably benign |
|
R4056:Dnah17
|
UTSW |
11 |
117,961,364 (GRCm39) |
missense |
probably benign |
0.05 |
R4113:Dnah17
|
UTSW |
11 |
118,003,420 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4295:Dnah17
|
UTSW |
11 |
118,009,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Dnah17
|
UTSW |
11 |
117,985,039 (GRCm39) |
missense |
probably benign |
0.01 |
R4412:Dnah17
|
UTSW |
11 |
117,964,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R4413:Dnah17
|
UTSW |
11 |
117,915,994 (GRCm39) |
missense |
probably benign |
0.00 |
R4422:Dnah17
|
UTSW |
11 |
117,972,799 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4552:Dnah17
|
UTSW |
11 |
117,943,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4669:Dnah17
|
UTSW |
11 |
117,965,119 (GRCm39) |
missense |
probably benign |
0.02 |
R4677:Dnah17
|
UTSW |
11 |
118,010,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Dnah17
|
UTSW |
11 |
117,964,474 (GRCm39) |
missense |
probably benign |
0.02 |
R4832:Dnah17
|
UTSW |
11 |
117,917,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R4868:Dnah17
|
UTSW |
11 |
117,999,038 (GRCm39) |
missense |
probably benign |
0.03 |
R4897:Dnah17
|
UTSW |
11 |
117,969,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Dnah17
|
UTSW |
11 |
117,918,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Dnah17
|
UTSW |
11 |
117,932,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Dnah17
|
UTSW |
11 |
117,965,124 (GRCm39) |
missense |
probably benign |
0.44 |
R5008:Dnah17
|
UTSW |
11 |
118,001,403 (GRCm39) |
missense |
probably benign |
0.01 |
R5016:Dnah17
|
UTSW |
11 |
117,971,592 (GRCm39) |
missense |
probably damaging |
0.96 |
R5027:Dnah17
|
UTSW |
11 |
117,993,365 (GRCm39) |
missense |
probably benign |
0.01 |
R5133:Dnah17
|
UTSW |
11 |
118,007,939 (GRCm39) |
missense |
probably benign |
0.00 |
R5140:Dnah17
|
UTSW |
11 |
117,977,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5146:Dnah17
|
UTSW |
11 |
118,005,005 (GRCm39) |
missense |
probably damaging |
0.99 |
R5151:Dnah17
|
UTSW |
11 |
117,918,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Dnah17
|
UTSW |
11 |
117,973,800 (GRCm39) |
nonsense |
probably null |
|
R5192:Dnah17
|
UTSW |
11 |
117,925,185 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5315:Dnah17
|
UTSW |
11 |
118,018,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5317:Dnah17
|
UTSW |
11 |
118,018,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5335:Dnah17
|
UTSW |
11 |
118,003,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R5379:Dnah17
|
UTSW |
11 |
118,008,029 (GRCm39) |
intron |
probably benign |
|
R5396:Dnah17
|
UTSW |
11 |
118,018,108 (GRCm39) |
missense |
probably benign |
|
R5418:Dnah17
|
UTSW |
11 |
117,985,810 (GRCm39) |
missense |
probably benign |
0.04 |
R5534:Dnah17
|
UTSW |
11 |
117,943,596 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5539:Dnah17
|
UTSW |
11 |
117,964,486 (GRCm39) |
missense |
probably benign |
0.03 |
R5594:Dnah17
|
UTSW |
11 |
117,934,055 (GRCm39) |
splice site |
probably null |
|
R5634:Dnah17
|
UTSW |
11 |
117,943,752 (GRCm39) |
splice site |
probably null |
|
R5696:Dnah17
|
UTSW |
11 |
117,991,882 (GRCm39) |
missense |
probably benign |
0.44 |
R5802:Dnah17
|
UTSW |
11 |
117,927,272 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5826:Dnah17
|
UTSW |
11 |
117,925,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R5873:Dnah17
|
UTSW |
11 |
117,947,723 (GRCm39) |
missense |
probably benign |
0.01 |
R5898:Dnah17
|
UTSW |
11 |
118,005,039 (GRCm39) |
missense |
probably benign |
0.00 |
R5934:Dnah17
|
UTSW |
11 |
117,931,928 (GRCm39) |
missense |
probably benign |
|
R6030:Dnah17
|
UTSW |
11 |
117,916,375 (GRCm39) |
missense |
probably benign |
0.32 |
R6030:Dnah17
|
UTSW |
11 |
117,916,375 (GRCm39) |
missense |
probably benign |
0.32 |
R6038:Dnah17
|
UTSW |
11 |
117,946,715 (GRCm39) |
missense |
probably benign |
0.00 |
R6038:Dnah17
|
UTSW |
11 |
117,946,715 (GRCm39) |
missense |
probably benign |
0.00 |
R6113:Dnah17
|
UTSW |
11 |
118,017,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R6117:Dnah17
|
UTSW |
11 |
118,010,397 (GRCm39) |
missense |
probably benign |
0.00 |
R6137:Dnah17
|
UTSW |
11 |
117,916,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:Dnah17
|
UTSW |
11 |
117,930,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Dnah17
|
UTSW |
11 |
118,017,149 (GRCm39) |
nonsense |
probably null |
|
R6258:Dnah17
|
UTSW |
11 |
118,017,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Dnah17
|
UTSW |
11 |
118,017,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Dnah17
|
UTSW |
11 |
118,017,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Dnah17
|
UTSW |
11 |
118,017,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R6260:Dnah17
|
UTSW |
11 |
118,017,149 (GRCm39) |
nonsense |
probably null |
|
R6278:Dnah17
|
UTSW |
11 |
118,017,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R6298:Dnah17
|
UTSW |
11 |
117,998,987 (GRCm39) |
missense |
probably benign |
0.00 |
R6300:Dnah17
|
UTSW |
11 |
117,925,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Dnah17
|
UTSW |
11 |
118,019,981 (GRCm39) |
missense |
probably benign |
0.09 |
R6363:Dnah17
|
UTSW |
11 |
118,001,331 (GRCm39) |
missense |
probably benign |
|
R6381:Dnah17
|
UTSW |
11 |
118,020,011 (GRCm39) |
missense |
probably benign |
0.08 |
R6418:Dnah17
|
UTSW |
11 |
118,020,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R6660:Dnah17
|
UTSW |
11 |
117,991,014 (GRCm39) |
missense |
probably benign |
|
R6803:Dnah17
|
UTSW |
11 |
118,016,198 (GRCm39) |
missense |
probably benign |
0.00 |
R6820:Dnah17
|
UTSW |
11 |
117,959,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R6885:Dnah17
|
UTSW |
11 |
117,981,598 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6921:Dnah17
|
UTSW |
11 |
117,932,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R6932:Dnah17
|
UTSW |
11 |
117,950,905 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6954:Dnah17
|
UTSW |
11 |
117,957,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:Dnah17
|
UTSW |
11 |
117,916,528 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7007:Dnah17
|
UTSW |
11 |
118,009,697 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7048:Dnah17
|
UTSW |
11 |
117,936,944 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7056:Dnah17
|
UTSW |
11 |
118,016,212 (GRCm39) |
missense |
probably benign |
|
R7131:Dnah17
|
UTSW |
11 |
117,970,484 (GRCm39) |
missense |
probably benign |
0.14 |
R7143:Dnah17
|
UTSW |
11 |
117,976,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7146:Dnah17
|
UTSW |
11 |
117,972,936 (GRCm39) |
missense |
probably damaging |
0.98 |
R7147:Dnah17
|
UTSW |
11 |
117,985,755 (GRCm39) |
missense |
probably benign |
0.31 |
R7172:Dnah17
|
UTSW |
11 |
117,931,957 (GRCm39) |
nonsense |
probably null |
|
R7183:Dnah17
|
UTSW |
11 |
118,020,014 (GRCm39) |
missense |
probably benign |
|
R7297:Dnah17
|
UTSW |
11 |
117,994,182 (GRCm39) |
missense |
probably damaging |
0.98 |
R7297:Dnah17
|
UTSW |
11 |
117,946,556 (GRCm39) |
critical splice donor site |
probably null |
|
R7367:Dnah17
|
UTSW |
11 |
118,006,022 (GRCm39) |
missense |
probably benign |
|
R7398:Dnah17
|
UTSW |
11 |
117,971,550 (GRCm39) |
missense |
probably damaging |
0.96 |
R7426:Dnah17
|
UTSW |
11 |
117,981,543 (GRCm39) |
missense |
probably null |
0.79 |
R7524:Dnah17
|
UTSW |
11 |
118,012,307 (GRCm39) |
missense |
probably benign |
0.03 |
R7529:Dnah17
|
UTSW |
11 |
117,940,692 (GRCm39) |
critical splice donor site |
probably null |
|
R7615:Dnah17
|
UTSW |
11 |
118,001,373 (GRCm39) |
nonsense |
probably null |
|
R7681:Dnah17
|
UTSW |
11 |
117,916,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R7702:Dnah17
|
UTSW |
11 |
118,012,304 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7702:Dnah17
|
UTSW |
11 |
117,916,466 (GRCm39) |
missense |
probably benign |
0.00 |
R7713:Dnah17
|
UTSW |
11 |
117,915,997 (GRCm39) |
missense |
probably benign |
0.02 |
R7809:Dnah17
|
UTSW |
11 |
117,995,462 (GRCm39) |
missense |
probably benign |
0.09 |
R7842:Dnah17
|
UTSW |
11 |
117,970,508 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7935:Dnah17
|
UTSW |
11 |
118,018,048 (GRCm39) |
missense |
probably benign |
0.20 |
R7951:Dnah17
|
UTSW |
11 |
118,009,592 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8070:Dnah17
|
UTSW |
11 |
117,915,497 (GRCm39) |
missense |
probably damaging |
0.97 |
R8098:Dnah17
|
UTSW |
11 |
117,941,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8101:Dnah17
|
UTSW |
11 |
118,016,744 (GRCm39) |
missense |
probably benign |
|
R8177:Dnah17
|
UTSW |
11 |
118,019,753 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8343:Dnah17
|
UTSW |
11 |
118,005,021 (GRCm39) |
missense |
probably benign |
|
R8350:Dnah17
|
UTSW |
11 |
117,977,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R8393:Dnah17
|
UTSW |
11 |
117,947,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R8401:Dnah17
|
UTSW |
11 |
117,915,485 (GRCm39) |
missense |
probably damaging |
0.96 |
R8418:Dnah17
|
UTSW |
11 |
117,994,284 (GRCm39) |
missense |
probably benign |
0.01 |
R8450:Dnah17
|
UTSW |
11 |
117,977,873 (GRCm39) |
missense |
probably damaging |
0.98 |
R8546:Dnah17
|
UTSW |
11 |
118,015,101 (GRCm39) |
missense |
probably benign |
0.00 |
R8697:Dnah17
|
UTSW |
11 |
117,976,985 (GRCm39) |
missense |
possibly damaging |
0.96 |
R8710:Dnah17
|
UTSW |
11 |
117,932,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R8713:Dnah17
|
UTSW |
11 |
117,979,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R8722:Dnah17
|
UTSW |
11 |
117,961,283 (GRCm39) |
nonsense |
probably null |
|
R8797:Dnah17
|
UTSW |
11 |
117,992,201 (GRCm39) |
missense |
probably benign |
0.00 |
R8953:Dnah17
|
UTSW |
11 |
118,016,238 (GRCm39) |
splice site |
probably benign |
|
R8965:Dnah17
|
UTSW |
11 |
117,915,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R8976:Dnah17
|
UTSW |
11 |
117,917,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R9090:Dnah17
|
UTSW |
11 |
117,931,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R9128:Dnah17
|
UTSW |
11 |
117,937,004 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9134:Dnah17
|
UTSW |
11 |
117,978,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Dnah17
|
UTSW |
11 |
118,016,503 (GRCm39) |
missense |
probably benign |
0.02 |
R9251:Dnah17
|
UTSW |
11 |
118,012,618 (GRCm39) |
missense |
probably benign |
0.03 |
R9271:Dnah17
|
UTSW |
11 |
117,931,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R9367:Dnah17
|
UTSW |
11 |
118,012,212 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9367:Dnah17
|
UTSW |
11 |
117,987,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9381:Dnah17
|
UTSW |
11 |
117,914,219 (GRCm39) |
missense |
probably benign |
|
R9405:Dnah17
|
UTSW |
11 |
118,009,737 (GRCm39) |
missense |
probably benign |
|
R9449:Dnah17
|
UTSW |
11 |
117,987,452 (GRCm39) |
missense |
probably benign |
0.07 |
R9517:Dnah17
|
UTSW |
11 |
117,915,440 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9588:Dnah17
|
UTSW |
11 |
118,012,783 (GRCm39) |
missense |
probably benign |
0.00 |
R9629:Dnah17
|
UTSW |
11 |
117,979,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R9654:Dnah17
|
UTSW |
11 |
117,927,156 (GRCm39) |
critical splice donor site |
probably null |
|
R9655:Dnah17
|
UTSW |
11 |
117,971,649 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9662:Dnah17
|
UTSW |
11 |
117,925,166 (GRCm39) |
missense |
probably damaging |
0.97 |
R9686:Dnah17
|
UTSW |
11 |
117,979,048 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9689:Dnah17
|
UTSW |
11 |
117,963,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R9706:Dnah17
|
UTSW |
11 |
118,017,026 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Dnah17
|
UTSW |
11 |
117,973,751 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Dnah17
|
UTSW |
11 |
118,017,992 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Dnah17
|
UTSW |
11 |
117,977,786 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Dnah17
|
UTSW |
11 |
117,969,389 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1177:Dnah17
|
UTSW |
11 |
118,017,968 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGCTGCTGTAAATCACCCC -3'
(R):5'- ATGCATGGCTGCTGCTTCACAC -3'
Sequencing Primer
(F):5'- CATAAGCAGCAGGTTTCACTG -3'
(R):5'- TGCTGCTTCACACAGGATG -3'
|
Posted On |
2014-05-23 |