Incidental Mutation 'R5792:Axdnd1'
| ID |
447002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Axdnd1
|
| Ensembl Gene |
ENSMUSG00000026601 |
| Gene Name |
axonemal dynein light chain domain containing 1 |
| Synonyms |
9430070O13Rik, LOC381304 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5792 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
156157985-156248743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 156169459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 802
(E802D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148420
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000212747]
[ENSMUST00000213088]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
131 |
314 |
2.4e-12 |
PFAM |
|
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178036
AA Change: E802D
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: E802D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
196 |
380 |
3.3e-14 |
PFAM |
|
low complexity region
|
470 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
coiled coil region
|
889 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212342
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212747
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213088
AA Change: E802D
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1542 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (56/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,945 (GRCm39) |
I296F |
possibly damaging |
Het |
| Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
| Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,640,898 (GRCm39) |
N382K |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
| Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
| Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
| Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
| Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
| Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
| Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
| Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
| Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
| Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
| Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
| Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
| Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
| Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
| Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
| Slf1 |
T |
A |
13: 77,214,856 (GRCm39) |
H610L |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
| Sytl2 |
A |
T |
7: 90,024,897 (GRCm39) |
D295V |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
| Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,818,090 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
| Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
| Zpbp2 |
A |
G |
11: 98,442,236 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Axdnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03058:Axdnd1
|
APN |
1 |
156,204,233 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03075:Axdnd1
|
APN |
1 |
156,223,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Axdnd1
|
APN |
1 |
156,205,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,205,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0164:Axdnd1
|
UTSW |
1 |
156,205,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0739:Axdnd1
|
UTSW |
1 |
156,208,456 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1087:Axdnd1
|
UTSW |
1 |
156,193,259 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1350:Axdnd1
|
UTSW |
1 |
156,205,950 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1488:Axdnd1
|
UTSW |
1 |
156,176,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Axdnd1
|
UTSW |
1 |
156,174,271 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1845:Axdnd1
|
UTSW |
1 |
156,204,114 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1900:Axdnd1
|
UTSW |
1 |
156,208,344 (GRCm39) |
splice site |
probably null |
|
|
R2126:Axdnd1
|
UTSW |
1 |
156,160,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2163:Axdnd1
|
UTSW |
1 |
156,219,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Axdnd1
|
UTSW |
1 |
156,245,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Axdnd1
|
UTSW |
1 |
156,193,221 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2568:Axdnd1
|
UTSW |
1 |
156,220,319 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3052:Axdnd1
|
UTSW |
1 |
156,169,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3053:Axdnd1
|
UTSW |
1 |
156,169,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3767:Axdnd1
|
UTSW |
1 |
156,208,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3927:Axdnd1
|
UTSW |
1 |
156,246,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3936:Axdnd1
|
UTSW |
1 |
156,159,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4829:Axdnd1
|
UTSW |
1 |
156,204,216 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4882:Axdnd1
|
UTSW |
1 |
156,223,129 (GRCm39) |
splice site |
probably null |
|
|
R4969:Axdnd1
|
UTSW |
1 |
156,223,075 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5091:Axdnd1
|
UTSW |
1 |
156,247,980 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5510:Axdnd1
|
UTSW |
1 |
156,162,920 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5549:Axdnd1
|
UTSW |
1 |
156,226,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5587:Axdnd1
|
UTSW |
1 |
156,178,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Axdnd1
|
UTSW |
1 |
156,176,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Axdnd1
|
UTSW |
1 |
156,193,182 (GRCm39) |
splice site |
probably null |
|
|
R6208:Axdnd1
|
UTSW |
1 |
156,220,426 (GRCm39) |
intron |
probably benign |
|
|
R6369:Axdnd1
|
UTSW |
1 |
156,220,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Axdnd1
|
UTSW |
1 |
156,208,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Axdnd1
|
UTSW |
1 |
156,158,532 (GRCm39) |
splice site |
probably null |
|
|
R7115:Axdnd1
|
UTSW |
1 |
156,208,446 (GRCm39) |
missense |
|
|
|
R7203:Axdnd1
|
UTSW |
1 |
156,209,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7352:Axdnd1
|
UTSW |
1 |
156,210,047 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7447:Axdnd1
|
UTSW |
1 |
156,245,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7470:Axdnd1
|
UTSW |
1 |
156,204,086 (GRCm39) |
missense |
|
|
|
R7686:Axdnd1
|
UTSW |
1 |
156,223,034 (GRCm39) |
nonsense |
probably null |
|
|
R7793:Axdnd1
|
UTSW |
1 |
156,166,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7809:Axdnd1
|
UTSW |
1 |
156,220,371 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Axdnd1
|
UTSW |
1 |
156,225,023 (GRCm39) |
missense |
|
|
|
R8256:Axdnd1
|
UTSW |
1 |
156,158,236 (GRCm39) |
missense |
unknown |
|
|
R8348:Axdnd1
|
UTSW |
1 |
156,245,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Axdnd1
|
UTSW |
1 |
156,219,516 (GRCm39) |
missense |
|
|
|
R9207:Axdnd1
|
UTSW |
1 |
156,215,616 (GRCm39) |
missense |
|
|
|
R9294:Axdnd1
|
UTSW |
1 |
156,247,917 (GRCm39) |
nonsense |
probably null |
|
|
R9741:Axdnd1
|
UTSW |
1 |
156,169,385 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0009:Axdnd1
|
UTSW |
1 |
156,215,649 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
X0067:Axdnd1
|
UTSW |
1 |
156,204,105 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1176:Axdnd1
|
UTSW |
1 |
156,176,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGTACCCTGAGATGCAG -3'
(R):5'- ATAAGCCCTGTAAGCGAGGC -3'
Sequencing Primer
(F):5'- GAACCTGAGTGTGACCTTACTAAG -3'
(R):5'- CGGGGTGTGATTAGGCCTAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation