Incidental Mutation 'R1783:Unc80'
ID |
195444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc80
|
Ensembl Gene |
ENSMUSG00000055567 |
Gene Name |
unc-80, NALCN activator |
Synonyms |
C230061B10Rik, C030018G13Rik |
MMRRC Submission |
039814-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R1783 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
66507526-66738307 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66722432 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 3015
(M3015I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061620]
[ENSMUST00000212557]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061620
AA Change: M3083I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000053692 Gene: ENSMUSG00000055567 AA Change: M3083I
Domain | Start | End | E-Value | Type |
Pfam:UNC80
|
16 |
236 |
2.2e-94 |
PFAM |
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
low complexity region
|
493 |
502 |
N/A |
INTRINSIC |
low complexity region
|
693 |
711 |
N/A |
INTRINSIC |
low complexity region
|
723 |
738 |
N/A |
INTRINSIC |
low complexity region
|
739 |
769 |
N/A |
INTRINSIC |
low complexity region
|
1038 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1067 |
1084 |
N/A |
INTRINSIC |
low complexity region
|
1309 |
1328 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1489 |
N/A |
INTRINSIC |
low complexity region
|
1676 |
1681 |
N/A |
INTRINSIC |
low complexity region
|
1842 |
1848 |
N/A |
INTRINSIC |
low complexity region
|
1854 |
1868 |
N/A |
INTRINSIC |
low complexity region
|
2461 |
2480 |
N/A |
INTRINSIC |
low complexity region
|
2726 |
2740 |
N/A |
INTRINSIC |
low complexity region
|
3121 |
3144 |
N/A |
INTRINSIC |
low complexity region
|
3245 |
3254 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152844
AA Change: M56I
|
SMART Domains |
Protein: ENSMUSP00000117070 Gene: ENSMUSG00000055567 AA Change: M56I
Domain | Start | End | E-Value | Type |
low complexity region
|
76 |
99 |
N/A |
INTRINSIC |
low complexity region
|
200 |
209 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212557
AA Change: M3015I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 93.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 226 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
A |
4: 103,088,286 (GRCm39) |
T307S |
probably damaging |
Het |
4930590J08Rik |
T |
C |
6: 91,896,259 (GRCm39) |
I369T |
possibly damaging |
Het |
Abhd17a |
T |
A |
10: 80,419,860 (GRCm39) |
I115F |
probably benign |
Het |
Acacb |
TGGGG |
TGGG |
5: 114,347,828 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
C |
T |
4: 129,903,098 (GRCm39) |
T566I |
possibly damaging |
Het |
Adgrf4 |
C |
T |
17: 42,977,789 (GRCm39) |
R518Q |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,401,312 (GRCm39) |
I1111V |
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,570,415 (GRCm39) |
V587A |
possibly 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 |
Capn8 |
T |
C |
1: 182,426,387 (GRCm39) |
S241P |
probably damaging |
Het |
Capn9 |
G |
A |
8: 125,332,450 (GRCm39) |
G430R |
possibly damaging |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Ccdc93 |
C |
T |
1: 121,383,855 (GRCm39) |
P192L |
probably benign |
Het |
Ccdc93 |
T |
C |
1: 121,389,668 (GRCm39) |
V237A |
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 |
Cep350 |
A |
C |
1: 155,804,611 (GRCm39) |
L824R |
probably 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 |
Chit1 |
A |
G |
1: 134,077,132 (GRCm39) |
R312G |
possibly damaging |
Het |
Chit1 |
G |
T |
1: 134,077,133 (GRCm39) |
R312I |
probably benign |
Het |
Cntnap5a |
C |
T |
1: 116,382,873 (GRCm39) |
T1047I |
probably benign |
Het |
Cntnap5a |
T |
C |
1: 116,382,831 (GRCm39) |
L1033S |
probably benign |
Het |
Cntnap5a |
C |
A |
1: 116,382,734 (GRCm39) |
L1001I |
probably benign |
Het |
Crb1 |
T |
C |
1: 139,162,517 (GRCm39) |
M1214V |
probably benign |
Het |
Crb1 |
C |
T |
1: 139,171,155 (GRCm39) |
R684H |
probably benign |
Het |
Crb1 |
C |
T |
1: 139,170,733 (GRCm39) |
G825R |
probably damaging |
Het |
Crb1 |
G |
A |
1: 139,168,876 (GRCm39) |
P881S |
probably damaging |
Het |
Crb1 |
A |
T |
1: 139,165,360 (GRCm39) |
H921Q |
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 |
Dock10 |
T |
G |
1: 80,551,897 (GRCm39) |
Y659S |
probably benign |
Het |
Dsel |
G |
C |
1: 111,787,724 (GRCm39) |
T937S |
probably benign |
Het |
Dsel |
T |
C |
1: 111,787,187 (GRCm39) |
N1116S |
probably benign |
Het |
Dsg2 |
G |
A |
18: 20,724,937 (GRCm39) |
V448I |
probably benign |
Het |
Dstyk |
C |
T |
1: 132,384,722 (GRCm39) |
L739F |
probably damaging |
Het |
Efnb2 |
G |
T |
8: 8,673,237 (GRCm39) |
T140K |
probably damaging |
Het |
En1 |
A |
G |
1: 120,531,350 (GRCm39) |
S197G |
unknown |
Het |
Eogt |
T |
C |
6: 97,090,825 (GRCm39) |
D438G |
probably damaging |
Het |
Etnk2 |
A |
G |
1: 133,291,661 (GRCm39) |
S54G |
probably benign |
Het |
Etnk2 |
G |
T |
1: 133,304,784 (GRCm39) |
A336S |
probably benign |
Het |
Etnk2 |
T |
A |
1: 133,304,653 (GRCm39) |
V292E |
probably benign |
Het |
Etnk2 |
G |
A |
1: 133,293,555 (GRCm39) |
R166Q |
probably benign |
Het |
Etnk2 |
C |
T |
1: 133,293,554 (GRCm39) |
R166* |
probably null |
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 |
Etnppl |
A |
G |
3: 130,414,398 (GRCm39) |
T98A |
probably damaging |
Het |
Fam131b |
T |
G |
6: 42,295,514 (GRCm39) |
Q221P |
possibly damaging |
Het |
Fam72a |
T |
C |
1: 131,458,406 (GRCm39) |
I56T |
probably benign |
Het |
Fam72a |
C |
T |
1: 131,466,633 (GRCm39) |
T139M |
probably benign |
Het |
Fam90a1a |
A |
G |
8: 22,453,479 (GRCm39) |
N278S |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,786,584 (GRCm39) |
M662L |
probably damaging |
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 |
C |
1: 130,732,364 (GRCm39) |
N117T |
probably benign |
Het |
Fcamr |
A |
G |
1: 130,739,317 (GRCm39) |
I206V |
probably benign |
Het |
Fcmr |
A |
G |
1: 130,803,711 (GRCm39) |
T172A |
probably benign |
Het |
Fcmr |
T |
C |
1: 130,806,006 (GRCm39) |
S321P |
probably benign |
Het |
Fmo9 |
A |
T |
1: 166,501,217 (GRCm39) |
F192L |
probably benign |
Het |
Gabarap |
C |
T |
11: 69,882,515 (GRCm39) |
|
probably benign |
Het |
Gatad2a |
G |
T |
8: 70,362,586 (GRCm39) |
H600N |
probably damaging |
Het |
Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,877,185 (GRCm39) |
E99G |
probably damaging |
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 |
Gm10961 |
T |
C |
3: 107,540,310 (GRCm39) |
|
probably benign |
Het |
Gpr25 |
G |
A |
1: 136,188,448 (GRCm39) |
P55L |
probably benign |
Het |
Gpsm3 |
G |
A |
17: 34,809,728 (GRCm39) |
R52H |
possibly damaging |
Het |
Grm7 |
G |
C |
6: 111,335,256 (GRCm39) |
D556H |
probably damaging |
Het |
Hdac5 |
A |
G |
11: 102,091,342 (GRCm39) |
F683L |
probably benign |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably 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 |
C |
A |
1: 131,193,674 (GRCm39) |
A459S |
probably benign |
Het |
Ikbke |
T |
C |
1: 131,197,560 (GRCm39) |
S447G |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
Irx5 |
A |
C |
8: 93,086,316 (GRCm39) |
E133A |
probably damaging |
Het |
Itgb5 |
C |
T |
16: 33,760,932 (GRCm39) |
T589I |
probably benign |
Het |
Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
Kcna5 |
A |
T |
6: 126,510,823 (GRCm39) |
I435N |
probably damaging |
Het |
Kcnj5 |
T |
C |
9: 32,233,488 (GRCm39) |
I276V |
probably damaging |
Het |
Kcnt2 |
G |
A |
1: 140,282,285 (GRCm39) |
S90N |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,396,017 (GRCm39) |
N108D |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,453,521 (GRCm39) |
V1433A |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,443,699 (GRCm39) |
F1291L |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,431,169 (GRCm39) |
L1189F |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,418,070 (GRCm39) |
S868G |
probably benign |
Het |
Kif14 |
G |
A |
1: 136,406,103 (GRCm39) |
A556T |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,396,713 (GRCm39) |
K340E |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,722,408 (GRCm39) |
R426G |
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 |
G |
A |
1: 133,611,372 (GRCm39) |
P67S |
probably damaging |
Het |
Lax1 |
T |
C |
1: 133,607,716 (GRCm39) |
R342G |
probably benign |
Het |
Lax1 |
T |
C |
1: 133,608,307 (GRCm39) |
N145D |
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 |
Lgr6 |
C |
T |
1: 134,914,826 (GRCm39) |
V641I |
probably benign |
Het |
Lgr6 |
A |
T |
1: 134,915,747 (GRCm39) |
S334T |
probably benign |
Het |
Lin7b |
A |
T |
7: 45,019,351 (GRCm39) |
H72Q |
probably benign |
Het |
Lmod1 |
C |
T |
1: 135,291,811 (GRCm39) |
T222I |
probably benign |
Het |
Map3k9 |
A |
T |
12: 81,769,000 (GRCm39) |
V1016E |
probably damaging |
Het |
Mcam |
T |
C |
9: 44,046,003 (GRCm39) |
L6P |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,641,794 (GRCm39) |
H549R |
possibly damaging |
Het |
Miip |
G |
A |
4: 147,950,231 (GRCm39) |
P122S |
probably damaging |
Het |
Mkrn1 |
T |
A |
6: 39,377,390 (GRCm39) |
N282Y |
probably null |
Het |
Mrc1 |
T |
C |
2: 14,332,655 (GRCm39) |
V1285A |
probably benign |
Het |
Mroh3 |
G |
C |
1: 136,119,882 (GRCm39) |
Q440E |
possibly damaging |
Het |
Mybpc1 |
T |
C |
10: 88,406,430 (GRCm39) |
D152G |
probably damaging |
Het |
Mybph |
C |
T |
1: 134,125,218 (GRCm39) |
R249C |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,467,592 (GRCm39) |
D739G |
possibly damaging |
Het |
Nav1 |
A |
T |
1: 135,512,465 (GRCm39) |
D198E |
possibly damaging |
Het |
Nfkbib |
A |
T |
7: 28,461,480 (GRCm39) |
Y86N |
probably damaging |
Het |
Nr5a2 |
C |
A |
1: 136,879,863 (GRCm39) |
R35L |
probably benign |
Het |
Nrip1 |
G |
T |
16: 76,089,778 (GRCm39) |
T593K |
probably benign |
Het |
Obscn |
A |
G |
11: 58,964,459 (GRCm39) |
Y726H |
probably damaging |
Het |
Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
Optc |
C |
G |
1: 133,832,908 (GRCm39) |
S64T |
probably benign |
Het |
Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
Or4a68 |
C |
T |
2: 89,269,927 (GRCm39) |
R232H |
probably benign |
Het |
Or4f14b |
T |
C |
2: 111,775,633 (GRCm39) |
H56R |
probably benign |
Het |
Or8d2 |
T |
A |
9: 38,760,268 (GRCm39) |
I286K |
probably damaging |
Het |
Or8g32 |
T |
C |
9: 39,305,518 (GRCm39) |
Y144H |
probably benign |
Het |
Pard6g |
T |
A |
18: 80,123,040 (GRCm39) |
F25I |
probably damaging |
Het |
Parp6 |
C |
A |
9: 59,540,821 (GRCm39) |
C291* |
probably null |
Het |
Perm1 |
C |
T |
4: 156,302,988 (GRCm39) |
R511* |
probably null |
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 |
Plekha6 |
C |
G |
1: 133,215,584 (GRCm39) |
T792S |
probably benign |
Het |
Pole |
T |
A |
5: 110,445,296 (GRCm39) |
L481Q |
probably damaging |
Het |
Polr2i |
T |
C |
7: 29,932,493 (GRCm39) |
C67R |
probably damaging |
Het |
Ppfia4 |
G |
A |
1: 134,227,059 (GRCm39) |
P1159S |
probably benign |
Het |
Pramel31 |
G |
T |
4: 144,088,295 (GRCm39) |
E30D |
probably benign |
Het |
Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,963,758 (GRCm39) |
N618S |
possibly damaging |
Het |
Ptpn7 |
A |
G |
1: 135,062,213 (GRCm39) |
Q53R |
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 |
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 |
Rab29 |
A |
G |
1: 131,799,848 (GRCm39) |
Q141R |
probably benign |
Het |
Ren1 |
T |
A |
1: 133,281,944 (GRCm39) |
W22R |
probably damaging |
Het |
Ren1 |
C |
G |
1: 133,278,516 (GRCm39) |
|
probably null |
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 |
T |
1: 133,281,975 (GRCm39) |
T32I |
probably benign |
Het |
Rims1 |
C |
T |
1: 22,416,753 (GRCm39) |
|
probably null |
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 |
Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
Rsph4a |
T |
C |
10: 33,787,632 (GRCm39) |
I596T |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,715,257 (GRCm39) |
Y2770* |
probably null |
Het |
Sctr |
T |
C |
1: 119,959,386 (GRCm39) |
F110L |
probably benign |
Het |
Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
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 |
Sertad4 |
T |
C |
1: 192,529,340 (GRCm39) |
T159A |
probably benign |
Het |
Setd1a |
T |
A |
7: 127,384,296 (GRCm39) |
Y382* |
probably null |
Het |
Sfswap |
T |
A |
5: 129,590,304 (GRCm39) |
V267E |
possibly damaging |
Het |
Shank1 |
T |
A |
7: 44,002,161 (GRCm39) |
D1293E |
possibly damaging |
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 |
Slc36a1 |
A |
G |
11: 55,114,498 (GRCm39) |
D192G |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,280,273 (GRCm39) |
L366Q |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,216,747 (GRCm39) |
|
probably null |
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 |
Svep1 |
T |
A |
4: 58,073,333 (GRCm39) |
Y1992F |
probably benign |
Het |
Syce1l |
A |
G |
8: 114,381,466 (GRCm39) |
R152G |
possibly damaging |
Het |
Tbc1d17 |
A |
C |
7: 44,494,555 (GRCm39) |
S227A |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,321,712 (GRCm39) |
|
probably null |
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 |
Tmem143 |
G |
A |
7: 45,556,426 (GRCm39) |
D144N |
possibly damaging |
Het |
Tmprss11a |
T |
A |
5: 86,567,891 (GRCm39) |
I279F |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,936,333 (GRCm39) |
L201P |
probably damaging |
Het |
Tnnt2 |
C |
T |
1: 135,773,244 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,619,245 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,643,683 (GRCm39) |
G11436R |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,899,905 (GRCm39) |
A149V |
probably benign |
Het |
Usp9y |
A |
T |
Y: 1,367,093 (GRCm39) |
V998D |
probably benign |
Het |
Utrn |
A |
G |
10: 12,339,083 (GRCm39) |
F2858S |
probably damaging |
Het |
Vmn1r224 |
T |
C |
17: 20,639,447 (GRCm39) |
I8T |
probably benign |
Het |
Vmn2r107 |
T |
C |
17: 20,576,775 (GRCm39) |
S258P |
possibly damaging |
Het |
Wars1 |
A |
C |
12: 108,841,667 (GRCm39) |
F160C |
probably damaging |
Het |
Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
Het |
Zc3h11a |
G |
A |
1: 133,549,892 (GRCm39) |
P695S |
probably benign |
Het |
Zc3h11a |
C |
T |
1: 133,552,359 (GRCm39) |
V583I |
probably benign |
Het |
Zfp28 |
A |
T |
7: 6,397,791 (GRCm39) |
Y742F |
probably damaging |
Het |
Zfp541 |
A |
G |
7: 15,811,898 (GRCm39) |
T184A |
probably damaging |
Het |
Zfp623 |
T |
C |
15: 75,819,760 (GRCm39) |
S239P |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,938 (GRCm39) |
D375G |
probably 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 Unc80 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00160:Unc80
|
APN |
1 |
66,693,554 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL00340:Unc80
|
APN |
1 |
66,645,618 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL00783:Unc80
|
APN |
1 |
66,647,596 (GRCm39) |
missense |
probably benign |
0.37 |
IGL00784:Unc80
|
APN |
1 |
66,647,596 (GRCm39) |
missense |
probably benign |
0.37 |
IGL00935:Unc80
|
APN |
1 |
66,666,425 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01094:Unc80
|
APN |
1 |
66,734,592 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01466:Unc80
|
APN |
1 |
66,661,645 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01577:Unc80
|
APN |
1 |
66,569,127 (GRCm39) |
splice site |
probably null |
|
IGL01626:Unc80
|
APN |
1 |
66,590,213 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01640:Unc80
|
APN |
1 |
66,718,744 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01775:Unc80
|
APN |
1 |
66,640,215 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01960:Unc80
|
APN |
1 |
66,647,659 (GRCm39) |
splice site |
probably benign |
|
IGL01991:Unc80
|
APN |
1 |
66,508,668 (GRCm39) |
nonsense |
probably null |
|
IGL02022:Unc80
|
APN |
1 |
66,665,675 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02073:Unc80
|
APN |
1 |
66,651,386 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02077:Unc80
|
APN |
1 |
66,564,875 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02197:Unc80
|
APN |
1 |
66,569,224 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02198:Unc80
|
APN |
1 |
66,569,145 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02228:Unc80
|
APN |
1 |
66,647,587 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02327:Unc80
|
APN |
1 |
66,680,832 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02447:Unc80
|
APN |
1 |
66,542,703 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02489:Unc80
|
APN |
1 |
66,564,860 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02546:Unc80
|
APN |
1 |
66,594,112 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02629:Unc80
|
APN |
1 |
66,522,476 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02631:Unc80
|
APN |
1 |
66,569,222 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02839:Unc80
|
APN |
1 |
66,710,834 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02960:Unc80
|
APN |
1 |
66,717,217 (GRCm39) |
splice site |
probably benign |
|
IGL02974:Unc80
|
APN |
1 |
66,564,817 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03060:Unc80
|
APN |
1 |
66,676,169 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL03062:Unc80
|
APN |
1 |
66,548,648 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03074:Unc80
|
APN |
1 |
66,710,877 (GRCm39) |
splice site |
probably benign |
|
IGL03086:Unc80
|
APN |
1 |
66,548,633 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03105:Unc80
|
APN |
1 |
66,511,258 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03107:Unc80
|
APN |
1 |
66,670,613 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03158:Unc80
|
APN |
1 |
66,680,833 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03220:Unc80
|
APN |
1 |
66,544,097 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03271:Unc80
|
APN |
1 |
66,734,762 (GRCm39) |
unclassified |
probably benign |
|
IGL03332:Unc80
|
APN |
1 |
66,542,790 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03347:Unc80
|
APN |
1 |
66,734,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Unc80
|
UTSW |
1 |
66,546,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0012:Unc80
|
UTSW |
1 |
66,546,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Unc80
|
UTSW |
1 |
66,560,743 (GRCm39) |
missense |
probably benign |
0.27 |
R0055:Unc80
|
UTSW |
1 |
66,545,782 (GRCm39) |
splice site |
probably benign |
|
R0149:Unc80
|
UTSW |
1 |
66,560,760 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0325:Unc80
|
UTSW |
1 |
66,550,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Unc80
|
UTSW |
1 |
66,713,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0330:Unc80
|
UTSW |
1 |
66,713,246 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0355:Unc80
|
UTSW |
1 |
66,589,015 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0412:Unc80
|
UTSW |
1 |
66,590,096 (GRCm39) |
splice site |
probably benign |
|
R0422:Unc80
|
UTSW |
1 |
66,522,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Unc80
|
UTSW |
1 |
66,609,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R0507:Unc80
|
UTSW |
1 |
66,567,052 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0513:Unc80
|
UTSW |
1 |
66,661,633 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0553:Unc80
|
UTSW |
1 |
66,545,828 (GRCm39) |
missense |
probably damaging |
0.97 |
R0626:Unc80
|
UTSW |
1 |
66,647,601 (GRCm39) |
missense |
probably benign |
0.01 |
R0655:Unc80
|
UTSW |
1 |
66,542,940 (GRCm39) |
missense |
probably damaging |
0.98 |
R0742:Unc80
|
UTSW |
1 |
66,567,052 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0755:Unc80
|
UTSW |
1 |
66,544,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0782:Unc80
|
UTSW |
1 |
66,661,740 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0837:Unc80
|
UTSW |
1 |
66,688,103 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0841:Unc80
|
UTSW |
1 |
66,511,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R0893:Unc80
|
UTSW |
1 |
66,560,645 (GRCm39) |
missense |
probably damaging |
0.97 |
R0900:Unc80
|
UTSW |
1 |
66,710,757 (GRCm39) |
missense |
probably benign |
0.33 |
R0924:Unc80
|
UTSW |
1 |
66,549,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0930:Unc80
|
UTSW |
1 |
66,549,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0989:Unc80
|
UTSW |
1 |
66,685,599 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1145:Unc80
|
UTSW |
1 |
66,511,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1145:Unc80
|
UTSW |
1 |
66,511,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1224:Unc80
|
UTSW |
1 |
66,511,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R1240:Unc80
|
UTSW |
1 |
66,675,061 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1245:Unc80
|
UTSW |
1 |
66,594,254 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1467:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1473:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1500:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1556:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1562:Unc80
|
UTSW |
1 |
66,677,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1655:Unc80
|
UTSW |
1 |
66,711,915 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1674:Unc80
|
UTSW |
1 |
66,548,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Unc80
|
UTSW |
1 |
66,542,828 (GRCm39) |
nonsense |
probably null |
|
R1739:Unc80
|
UTSW |
1 |
66,567,051 (GRCm39) |
missense |
probably damaging |
0.97 |
R1756:Unc80
|
UTSW |
1 |
66,678,407 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1834:Unc80
|
UTSW |
1 |
66,678,407 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1854:Unc80
|
UTSW |
1 |
66,670,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1871:Unc80
|
UTSW |
1 |
66,549,876 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1878:Unc80
|
UTSW |
1 |
66,548,561 (GRCm39) |
missense |
probably damaging |
0.96 |
R1883:Unc80
|
UTSW |
1 |
66,564,929 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1912:Unc80
|
UTSW |
1 |
66,549,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1990:Unc80
|
UTSW |
1 |
66,731,708 (GRCm39) |
missense |
probably damaging |
0.97 |
R2007:Unc80
|
UTSW |
1 |
66,542,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R2035:Unc80
|
UTSW |
1 |
66,645,752 (GRCm39) |
missense |
probably damaging |
0.98 |
R2056:Unc80
|
UTSW |
1 |
66,679,711 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2060:Unc80
|
UTSW |
1 |
66,679,754 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2074:Unc80
|
UTSW |
1 |
66,718,903 (GRCm39) |
critical splice donor site |
probably null |
|
R2088:Unc80
|
UTSW |
1 |
66,629,386 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2089:Unc80
|
UTSW |
1 |
66,710,874 (GRCm39) |
splice site |
probably benign |
|
R2091:Unc80
|
UTSW |
1 |
66,710,874 (GRCm39) |
splice site |
probably benign |
|
R2139:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2169:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2175:Unc80
|
UTSW |
1 |
66,716,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R2248:Unc80
|
UTSW |
1 |
66,662,365 (GRCm39) |
splice site |
probably benign |
|
R2255:Unc80
|
UTSW |
1 |
66,657,417 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2308:Unc80
|
UTSW |
1 |
66,688,156 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2484:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2507:Unc80
|
UTSW |
1 |
66,651,266 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2512:Unc80
|
UTSW |
1 |
66,710,767 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2878:Unc80
|
UTSW |
1 |
66,710,735 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R3040:Unc80
|
UTSW |
1 |
66,678,464 (GRCm39) |
missense |
probably benign |
0.33 |
R3104:Unc80
|
UTSW |
1 |
66,662,450 (GRCm39) |
missense |
probably benign |
0.33 |
R3402:Unc80
|
UTSW |
1 |
66,549,845 (GRCm39) |
missense |
probably damaging |
0.97 |
R3403:Unc80
|
UTSW |
1 |
66,549,845 (GRCm39) |
missense |
probably damaging |
0.97 |
R3413:Unc80
|
UTSW |
1 |
66,678,464 (GRCm39) |
missense |
probably benign |
0.33 |
R3426:Unc80
|
UTSW |
1 |
66,678,464 (GRCm39) |
missense |
probably benign |
0.33 |
R3427:Unc80
|
UTSW |
1 |
66,678,464 (GRCm39) |
missense |
probably benign |
0.33 |
R3428:Unc80
|
UTSW |
1 |
66,678,464 (GRCm39) |
missense |
probably benign |
0.33 |
R3904:Unc80
|
UTSW |
1 |
66,678,455 (GRCm39) |
nonsense |
probably null |
|
R3916:Unc80
|
UTSW |
1 |
66,716,654 (GRCm39) |
missense |
probably benign |
0.11 |
R3950:Unc80
|
UTSW |
1 |
66,661,729 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4642:Unc80
|
UTSW |
1 |
66,710,873 (GRCm39) |
splice site |
probably null |
|
R4646:Unc80
|
UTSW |
1 |
66,708,394 (GRCm39) |
missense |
probably benign |
0.03 |
R4655:Unc80
|
UTSW |
1 |
66,710,821 (GRCm39) |
missense |
probably benign |
0.18 |
R4662:Unc80
|
UTSW |
1 |
66,685,595 (GRCm39) |
missense |
probably benign |
0.01 |
R4720:Unc80
|
UTSW |
1 |
66,549,951 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4736:Unc80
|
UTSW |
1 |
66,688,831 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4795:Unc80
|
UTSW |
1 |
66,567,100 (GRCm39) |
missense |
probably damaging |
0.97 |
R4888:Unc80
|
UTSW |
1 |
66,683,606 (GRCm39) |
missense |
probably damaging |
0.98 |
R4917:Unc80
|
UTSW |
1 |
66,685,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4918:Unc80
|
UTSW |
1 |
66,685,709 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4983:Unc80
|
UTSW |
1 |
66,713,891 (GRCm39) |
splice site |
probably null |
|
R5051:Unc80
|
UTSW |
1 |
66,548,636 (GRCm39) |
missense |
probably damaging |
0.96 |
R5111:Unc80
|
UTSW |
1 |
66,567,154 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5122:Unc80
|
UTSW |
1 |
66,718,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5260:Unc80
|
UTSW |
1 |
66,685,746 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5351:Unc80
|
UTSW |
1 |
66,645,672 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5387:Unc80
|
UTSW |
1 |
66,569,180 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5437:Unc80
|
UTSW |
1 |
66,693,737 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5525:Unc80
|
UTSW |
1 |
66,645,773 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5621:Unc80
|
UTSW |
1 |
66,677,202 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5690:Unc80
|
UTSW |
1 |
66,679,731 (GRCm39) |
missense |
probably benign |
0.08 |
R5762:Unc80
|
UTSW |
1 |
66,732,955 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5956:Unc80
|
UTSW |
1 |
66,567,123 (GRCm39) |
missense |
probably damaging |
0.97 |
R6005:Unc80
|
UTSW |
1 |
66,666,416 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6025:Unc80
|
UTSW |
1 |
66,734,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6033:Unc80
|
UTSW |
1 |
66,512,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6033:Unc80
|
UTSW |
1 |
66,512,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6117:Unc80
|
UTSW |
1 |
66,714,226 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6156:Unc80
|
UTSW |
1 |
66,651,409 (GRCm39) |
missense |
probably benign |
0.01 |
R6157:Unc80
|
UTSW |
1 |
66,693,188 (GRCm39) |
nonsense |
probably null |
|
R6189:Unc80
|
UTSW |
1 |
66,716,630 (GRCm39) |
missense |
probably benign |
0.33 |
R6291:Unc80
|
UTSW |
1 |
66,560,756 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6367:Unc80
|
UTSW |
1 |
66,711,925 (GRCm39) |
missense |
probably benign |
0.33 |
R6598:Unc80
|
UTSW |
1 |
66,507,699 (GRCm39) |
critical splice donor site |
probably null |
|
R6724:Unc80
|
UTSW |
1 |
66,722,350 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6763:Unc80
|
UTSW |
1 |
66,560,636 (GRCm39) |
missense |
probably benign |
0.00 |
R6773:Unc80
|
UTSW |
1 |
66,690,702 (GRCm39) |
missense |
probably benign |
0.33 |
R6883:Unc80
|
UTSW |
1 |
66,685,563 (GRCm39) |
missense |
probably benign |
0.33 |
R6951:Unc80
|
UTSW |
1 |
66,687,670 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6965:Unc80
|
UTSW |
1 |
66,685,725 (GRCm39) |
missense |
probably benign |
0.33 |
R6993:Unc80
|
UTSW |
1 |
66,588,952 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7041:Unc80
|
UTSW |
1 |
66,542,752 (GRCm39) |
missense |
probably benign |
0.00 |
R7050:Unc80
|
UTSW |
1 |
66,590,067 (GRCm39) |
splice site |
probably null |
|
R7067:Unc80
|
UTSW |
1 |
66,685,731 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7080:Unc80
|
UTSW |
1 |
66,685,680 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7193:Unc80
|
UTSW |
1 |
66,588,943 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7197:Unc80
|
UTSW |
1 |
66,560,725 (GRCm39) |
nonsense |
probably null |
|
R7278:Unc80
|
UTSW |
1 |
66,591,368 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7290:Unc80
|
UTSW |
1 |
66,640,356 (GRCm39) |
missense |
probably damaging |
0.97 |
R7391:Unc80
|
UTSW |
1 |
66,734,687 (GRCm39) |
missense |
probably benign |
0.18 |
R7401:Unc80
|
UTSW |
1 |
66,685,574 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7470:Unc80
|
UTSW |
1 |
66,661,621 (GRCm39) |
missense |
probably benign |
0.02 |
R7573:Unc80
|
UTSW |
1 |
66,560,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7637:Unc80
|
UTSW |
1 |
66,711,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7678:Unc80
|
UTSW |
1 |
66,688,881 (GRCm39) |
missense |
probably benign |
0.33 |
R7697:Unc80
|
UTSW |
1 |
66,677,104 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7746:Unc80
|
UTSW |
1 |
66,716,544 (GRCm39) |
missense |
probably benign |
0.33 |
R7768:Unc80
|
UTSW |
1 |
66,549,754 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7796:Unc80
|
UTSW |
1 |
66,542,873 (GRCm39) |
missense |
probably benign |
|
R7855:Unc80
|
UTSW |
1 |
66,522,508 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7878:Unc80
|
UTSW |
1 |
66,640,300 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7879:Unc80
|
UTSW |
1 |
66,549,866 (GRCm39) |
missense |
probably benign |
0.00 |
R8024:Unc80
|
UTSW |
1 |
66,645,803 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8026:Unc80
|
UTSW |
1 |
66,522,463 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8115:Unc80
|
UTSW |
1 |
66,688,072 (GRCm39) |
missense |
probably benign |
0.00 |
R8135:Unc80
|
UTSW |
1 |
66,548,446 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8170:Unc80
|
UTSW |
1 |
66,690,692 (GRCm39) |
missense |
probably benign |
0.33 |
R8239:Unc80
|
UTSW |
1 |
66,693,178 (GRCm39) |
missense |
probably benign |
|
R8249:Unc80
|
UTSW |
1 |
66,658,650 (GRCm39) |
missense |
probably benign |
0.01 |
R8275:Unc80
|
UTSW |
1 |
66,679,773 (GRCm39) |
nonsense |
probably null |
|
R8288:Unc80
|
UTSW |
1 |
66,512,509 (GRCm39) |
missense |
probably benign |
0.07 |
R8341:Unc80
|
UTSW |
1 |
66,688,192 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8356:Unc80
|
UTSW |
1 |
66,680,788 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8433:Unc80
|
UTSW |
1 |
66,677,187 (GRCm39) |
nonsense |
probably null |
|
R8456:Unc80
|
UTSW |
1 |
66,680,788 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8464:Unc80
|
UTSW |
1 |
66,512,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R8483:Unc80
|
UTSW |
1 |
66,732,869 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8509:Unc80
|
UTSW |
1 |
66,680,788 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8686:Unc80
|
UTSW |
1 |
66,651,427 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8701:Unc80
|
UTSW |
1 |
66,677,191 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8729:Unc80
|
UTSW |
1 |
66,647,649 (GRCm39) |
missense |
probably benign |
0.01 |
R8755:Unc80
|
UTSW |
1 |
66,651,290 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8771:Unc80
|
UTSW |
1 |
66,685,554 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8866:Unc80
|
UTSW |
1 |
66,629,388 (GRCm39) |
missense |
probably benign |
0.05 |
R8877:Unc80
|
UTSW |
1 |
66,567,144 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8942:Unc80
|
UTSW |
1 |
66,512,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8976:Unc80
|
UTSW |
1 |
66,511,169 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9063:Unc80
|
UTSW |
1 |
66,645,816 (GRCm39) |
critical splice donor site |
probably null |
|
R9095:Unc80
|
UTSW |
1 |
66,545,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9125:Unc80
|
UTSW |
1 |
66,718,740 (GRCm39) |
missense |
probably benign |
0.18 |
R9130:Unc80
|
UTSW |
1 |
66,677,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9165:Unc80
|
UTSW |
1 |
66,589,000 (GRCm39) |
missense |
probably null |
0.95 |
R9220:Unc80
|
UTSW |
1 |
66,546,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Unc80
|
UTSW |
1 |
66,594,411 (GRCm39) |
intron |
probably benign |
|
R9334:Unc80
|
UTSW |
1 |
66,688,919 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9374:Unc80
|
UTSW |
1 |
66,629,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9387:Unc80
|
UTSW |
1 |
66,589,097 (GRCm39) |
critical splice donor site |
probably null |
|
R9415:Unc80
|
UTSW |
1 |
66,550,064 (GRCm39) |
missense |
|
|
R9427:Unc80
|
UTSW |
1 |
66,594,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9436:Unc80
|
UTSW |
1 |
66,732,964 (GRCm39) |
critical splice donor site |
probably null |
|
R9454:Unc80
|
UTSW |
1 |
66,734,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9522:Unc80
|
UTSW |
1 |
66,677,221 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9539:Unc80
|
UTSW |
1 |
66,609,163 (GRCm39) |
critical splice donor site |
probably null |
|
R9552:Unc80
|
UTSW |
1 |
66,717,282 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9667:Unc80
|
UTSW |
1 |
66,651,287 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9720:Unc80
|
UTSW |
1 |
66,683,485 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9749:Unc80
|
UTSW |
1 |
66,544,179 (GRCm39) |
missense |
probably damaging |
0.99 |
R9789:Unc80
|
UTSW |
1 |
66,651,371 (GRCm39) |
missense |
possibly damaging |
0.53 |
X0019:Unc80
|
UTSW |
1 |
66,687,541 (GRCm39) |
missense |
probably benign |
0.33 |
X0021:Unc80
|
UTSW |
1 |
66,548,425 (GRCm39) |
critical splice acceptor site |
probably null |
|
X0024:Unc80
|
UTSW |
1 |
66,530,205 (GRCm39) |
missense |
probably benign |
0.21 |
X0062:Unc80
|
UTSW |
1 |
66,662,418 (GRCm39) |
missense |
probably benign |
0.02 |
X0066:Unc80
|
UTSW |
1 |
66,569,916 (GRCm39) |
missense |
possibly damaging |
0.77 |
Y4335:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
Y4336:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
Y4338:Unc80
|
UTSW |
1 |
66,560,740 (GRCm39) |
missense |
possibly damaging |
0.46 |
Z1088:Unc80
|
UTSW |
1 |
66,685,610 (GRCm39) |
missense |
possibly damaging |
0.85 |
Z1176:Unc80
|
UTSW |
1 |
66,733,568 (GRCm39) |
missense |
probably benign |
|
Z1177:Unc80
|
UTSW |
1 |
66,734,498 (GRCm39) |
missense |
probably benign |
0.03 |
Z1177:Unc80
|
UTSW |
1 |
66,685,557 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGGTTGTACCCCATACAGGGAAG -3'
(R):5'- ATGAAGGCTAAGGCTAAATGCCCAG -3'
Sequencing Primer
(F):5'- TACCCCATACAGGGAAGGAGTTATC -3'
(R):5'- TGCCCAGAGTATCTAGTAAACTGC -3'
|
Posted On |
2014-05-23 |