Incidental Mutation 'R1689:Wdr81'
| ID |
189585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr81
|
| Ensembl Gene |
ENSMUSG00000045374 |
| Gene Name |
WD repeat domain 81 |
| Synonyms |
shakey 5, nur5, MGC32441 |
| MMRRC Submission |
039722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1689 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75331770-75345543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75336422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1655
(F1655L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173320]
|
| AlphaFold |
Q5ND34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117392
AA Change: F1655L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: F1655L
| Domain | Start | End | E-Value | Type |
|---|
|
Beach
|
347 |
589 |
2.52e-98 |
SMART |
|
low complexity region
|
673 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1165 |
N/A |
INTRINSIC |
|
low complexity region
|
1196 |
1210 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1587 |
N/A |
INTRINSIC |
|
WD40
|
1630 |
1669 |
3.19e-7 |
SMART |
|
WD40
|
1679 |
1716 |
1.18e2 |
SMART |
|
WD40
|
1719 |
1761 |
7.36e1 |
SMART |
|
WD40
|
1764 |
1807 |
3.3e1 |
SMART |
|
WD40
|
1810 |
1848 |
3.58e-1 |
SMART |
|
WD40
|
1893 |
1934 |
4.26e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132442
AA Change: F537L
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: F537L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
7 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
469 |
N/A |
INTRINSIC |
|
WD40
|
512 |
551 |
3.19e-7 |
SMART |
|
WD40
|
561 |
598 |
1.18e2 |
SMART |
|
WD40
|
601 |
670 |
3.55e1 |
SMART |
|
Blast:WD40
|
673 |
710 |
3e-14 |
BLAST |
|
WD40
|
715 |
756 |
4.26e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135804
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173320
AA Change: F1656L
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: F1656L
| Domain | Start | End | E-Value | Type |
|---|
|
Beach
|
347 |
589 |
2.52e-98 |
SMART |
|
low complexity region
|
673 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
874 |
N/A |
INTRINSIC |
|
low complexity region
|
1141 |
1165 |
N/A |
INTRINSIC |
|
low complexity region
|
1196 |
1210 |
N/A |
INTRINSIC |
|
low complexity region
|
1566 |
1587 |
N/A |
INTRINSIC |
|
WD40
|
1630 |
1669 |
3.19e-7 |
SMART |
|
WD40
|
1679 |
1716 |
1.18e2 |
SMART |
|
WD40
|
1719 |
1761 |
7.36e1 |
SMART |
|
WD40
|
1764 |
1807 |
3.3e1 |
SMART |
|
WD40
|
1810 |
1848 |
3.58e-1 |
SMART |
|
WD40
|
1893 |
1934 |
4.26e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain transmembrane protein, which is predominantly expressed in the brain. Mutations in this gene are associated with autosomal recessive cerebellar ataxia, mental retardation, and dysequilibrium syndrome-2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit weight loss, tremors, ataxia and an abnormal gait, as well as abnormal mitochondria in Purkinje cell dendrites, Purkinje cell degeneration, photoreceptor cell loss, and decreased total retina thickness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,769,827 (GRCm39) |
K896R |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,115,426 (GRCm39) |
|
probably null |
Het |
| Adgre1 |
T |
C |
17: 57,756,921 (GRCm39) |
F726S |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,595,948 (GRCm39) |
S148T |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Ammecr1l |
C |
A |
18: 31,913,741 (GRCm39) |
A289D |
probably benign |
Het |
| Amotl1 |
T |
C |
9: 14,504,518 (GRCm39) |
Y230C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,682,187 (GRCm39) |
S65R |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,084,575 (GRCm39) |
Y1440* |
probably null |
Het |
| Atf6b |
T |
A |
17: 34,869,276 (GRCm39) |
D164E |
probably damaging |
Het |
| B4galt6 |
C |
T |
18: 20,839,553 (GRCm39) |
S127N |
probably benign |
Het |
| Bcl11a |
A |
T |
11: 24,113,167 (GRCm39) |
Y170F |
probably damaging |
Het |
| Bcl11a |
A |
T |
11: 24,114,406 (GRCm39) |
D583V |
possibly damaging |
Het |
| Btnl1 |
T |
A |
17: 34,600,182 (GRCm39) |
Y228* |
probably null |
Het |
| Cav2 |
A |
G |
6: 17,281,421 (GRCm39) |
H21R |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,314,620 (GRCm39) |
D1135V |
possibly damaging |
Het |
| Cntnap1 |
A |
C |
11: 101,079,699 (GRCm39) |
|
probably null |
Het |
| Cysltr2 |
T |
C |
14: 73,267,470 (GRCm39) |
D80G |
possibly damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dgkh |
A |
T |
14: 78,855,984 (GRCm39) |
M363K |
possibly damaging |
Het |
| Eml5 |
C |
T |
12: 98,797,194 (GRCm39) |
V1112M |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,713,915 (GRCm39) |
T425A |
probably damaging |
Het |
| Ephx2 |
T |
A |
14: 66,324,475 (GRCm39) |
K373* |
probably null |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,750,862 (GRCm39) |
I482L |
probably damaging |
Het |
| Fbxw8 |
T |
C |
5: 118,215,682 (GRCm39) |
S443G |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,394,138 (GRCm39) |
E191G |
probably benign |
Het |
| Fgd2 |
A |
G |
17: 29,582,696 (GRCm39) |
E26G |
probably benign |
Het |
| Gabra4 |
T |
C |
5: 71,790,885 (GRCm39) |
|
probably null |
Het |
| Gc |
A |
G |
5: 89,589,059 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,439,506 (GRCm39) |
D1361E |
probably benign |
Het |
| Hid1 |
A |
G |
11: 115,251,183 (GRCm39) |
F118L |
probably damaging |
Het |
| Igsf8 |
G |
T |
1: 172,146,504 (GRCm39) |
G564W |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,313,744 (GRCm39) |
V4A |
probably benign |
Het |
| Irak3 |
T |
C |
10: 119,982,457 (GRCm39) |
E335G |
probably damaging |
Het |
| Itgb8 |
T |
G |
12: 119,134,555 (GRCm39) |
Q504P |
probably benign |
Het |
| Kbtbd12 |
A |
T |
6: 88,595,567 (GRCm39) |
Y88N |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,869,969 (GRCm39) |
I226T |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,131,527 (GRCm39) |
I135N |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,333,873 (GRCm39) |
T1456K |
probably benign |
Het |
| Mrgprd |
C |
A |
7: 144,875,454 (GRCm39) |
Y108* |
probably null |
Het |
| Muc6 |
C |
T |
7: 141,234,265 (GRCm39) |
G742D |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,522,666 (GRCm39) |
I1572F |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,231 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,495 (GRCm39) |
S202P |
possibly damaging |
Het |
| Or1ak2 |
A |
G |
2: 36,827,989 (GRCm39) |
N286S |
probably damaging |
Het |
| Or7d11 |
A |
T |
9: 19,966,422 (GRCm39) |
N112K |
possibly damaging |
Het |
| Pacs1 |
G |
T |
19: 5,322,643 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,784,968 (GRCm39) |
L14P |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,408,688 (GRCm39) |
G176D |
probably damaging |
Het |
| Pramel17 |
T |
A |
4: 101,694,376 (GRCm39) |
K169I |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,345,412 (GRCm39) |
F5L |
probably benign |
Het |
| Qrfprl |
A |
G |
6: 65,358,591 (GRCm39) |
N105S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,552 (GRCm39) |
L2114P |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Senp2 |
T |
A |
16: 21,845,416 (GRCm39) |
Y217N |
probably damaging |
Het |
| Sned1 |
C |
T |
1: 93,211,094 (GRCm39) |
R1061C |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 70,500,277 (GRCm39) |
T535I |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,619,583 (GRCm39) |
L355* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,864,678 (GRCm39) |
H928R |
possibly damaging |
Het |
| Tpo |
A |
T |
12: 30,148,245 (GRCm39) |
L552H |
probably damaging |
Het |
| Tsfm |
A |
T |
10: 126,864,324 (GRCm39) |
N130K |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,383,418 (GRCm39) |
|
probably null |
Het |
| Vsig10 |
A |
G |
5: 117,490,825 (GRCm39) |
D544G |
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,792 (GRCm39) |
T433I |
possibly damaging |
Het |
| Wfdc3 |
T |
A |
2: 164,576,111 (GRCm39) |
D60V |
probably damaging |
Het |
|
| Other mutations in Wdr81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Wdr81
|
APN |
11 |
75,336,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02047:Wdr81
|
APN |
11 |
75,336,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02103:Wdr81
|
APN |
11 |
75,335,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Wdr81
|
APN |
11 |
75,335,232 (GRCm39) |
missense |
probably benign |
0.44 |
|
jello
|
UTSW |
11 |
75,332,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Wdr81
|
UTSW |
11 |
75,343,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1560:Wdr81
|
UTSW |
11 |
75,342,449 (GRCm39) |
nonsense |
probably null |
|
|
R1680:Wdr81
|
UTSW |
11 |
75,345,249 (GRCm39) |
missense |
probably benign |
|
|
R2021:Wdr81
|
UTSW |
11 |
75,336,788 (GRCm39) |
nonsense |
probably null |
|
|
R2104:Wdr81
|
UTSW |
11 |
75,343,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Wdr81
|
UTSW |
11 |
75,344,461 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2198:Wdr81
|
UTSW |
11 |
75,336,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2393:Wdr81
|
UTSW |
11 |
75,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2400:Wdr81
|
UTSW |
11 |
75,339,861 (GRCm39) |
missense |
probably benign |
|
|
R2850:Wdr81
|
UTSW |
11 |
75,341,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Wdr81
|
UTSW |
11 |
75,343,758 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3764:Wdr81
|
UTSW |
11 |
75,343,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Wdr81
|
UTSW |
11 |
75,338,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4351:Wdr81
|
UTSW |
11 |
75,332,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Wdr81
|
UTSW |
11 |
75,336,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4601:Wdr81
|
UTSW |
11 |
75,336,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Wdr81
|
UTSW |
11 |
75,336,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4651:Wdr81
|
UTSW |
11 |
75,342,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4652:Wdr81
|
UTSW |
11 |
75,342,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Wdr81
|
UTSW |
11 |
75,342,750 (GRCm39) |
missense |
probably benign |
|
|
R4966:Wdr81
|
UTSW |
11 |
75,336,775 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5075:Wdr81
|
UTSW |
11 |
75,343,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5412:Wdr81
|
UTSW |
11 |
75,341,620 (GRCm39) |
missense |
probably null |
1.00 |
|
R5426:Wdr81
|
UTSW |
11 |
75,341,722 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5540:Wdr81
|
UTSW |
11 |
75,339,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Wdr81
|
UTSW |
11 |
75,332,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5632:Wdr81
|
UTSW |
11 |
75,336,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5650:Wdr81
|
UTSW |
11 |
75,335,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Wdr81
|
UTSW |
11 |
75,343,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Wdr81
|
UTSW |
11 |
75,335,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Wdr81
|
UTSW |
11 |
75,338,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6031:Wdr81
|
UTSW |
11 |
75,338,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6412:Wdr81
|
UTSW |
11 |
75,341,989 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6479:Wdr81
|
UTSW |
11 |
75,342,931 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6992:Wdr81
|
UTSW |
11 |
75,342,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7148:Wdr81
|
UTSW |
11 |
75,336,828 (GRCm39) |
missense |
|
|
|
R7340:Wdr81
|
UTSW |
11 |
75,335,525 (GRCm39) |
missense |
probably null |
|
|
R7739:Wdr81
|
UTSW |
11 |
75,332,811 (GRCm39) |
missense |
|
|
|
R7823:Wdr81
|
UTSW |
11 |
75,340,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Wdr81
|
UTSW |
11 |
75,344,725 (GRCm39) |
missense |
probably benign |
|
|
R7938:Wdr81
|
UTSW |
11 |
75,338,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8425:Wdr81
|
UTSW |
11 |
75,342,348 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8560:Wdr81
|
UTSW |
11 |
75,336,260 (GRCm39) |
missense |
|
|
|
R8871:Wdr81
|
UTSW |
11 |
75,343,919 (GRCm39) |
nonsense |
probably null |
|
|
R9012:Wdr81
|
UTSW |
11 |
75,339,971 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9027:Wdr81
|
UTSW |
11 |
75,343,207 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9027:Wdr81
|
UTSW |
11 |
75,332,908 (GRCm39) |
missense |
|
|
|
R9091:Wdr81
|
UTSW |
11 |
75,345,216 (GRCm39) |
missense |
probably benign |
|
|
R9114:Wdr81
|
UTSW |
11 |
75,335,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Wdr81
|
UTSW |
11 |
75,336,256 (GRCm39) |
missense |
|
|
|
R9270:Wdr81
|
UTSW |
11 |
75,345,216 (GRCm39) |
missense |
probably benign |
|
|
R9599:Wdr81
|
UTSW |
11 |
75,344,349 (GRCm39) |
missense |
probably benign |
|
|
R9653:Wdr81
|
UTSW |
11 |
75,340,213 (GRCm39) |
missense |
|
|
|
R9667:Wdr81
|
UTSW |
11 |
75,341,650 (GRCm39) |
missense |
|
|
|
R9671:Wdr81
|
UTSW |
11 |
75,345,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Wdr81
|
UTSW |
11 |
75,342,773 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Wdr81
|
UTSW |
11 |
75,340,711 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCACAGTAAAGCAGCCGTC -3'
(R):5'- GGAAATCGCATCCAGATCCCTGAC -3'
Sequencing Primer
(F):5'- TAAAGCAGCCGTCGAACAG -3'
(R):5'- AGATCCCTGACTCTCAGCC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation