Incidental Mutation 'IGL02103:Wdr81'
| ID |
279831 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr81
|
| Ensembl Gene |
ENSMUSG00000045374 |
| Gene Name |
WD repeat domain 81 |
| Synonyms |
shakey 5, nur5, MGC32441 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
75331770-75345543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75335546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1761
(D1761V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173320]
|
| AlphaFold |
Q5ND34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117392
AA Change: D1760V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113939
Gene: ENSMUSG00000045374
AA Change: D1760V
| 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 damaging
Transcript: ENSMUST00000132442
AA Change: D642V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120605
Gene: ENSMUSG00000045374
AA Change: D642V
| 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 |
probably damaging
Transcript: ENSMUST00000173320
AA Change: D1761V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134266
Gene: ENSMUSG00000045374
AA Change: D1761V
| 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 |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
G |
A |
12: 84,659,138 (GRCm39) |
T206M |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,390 (GRCm39) |
V22D |
possibly damaging |
Het |
| Alb |
G |
A |
5: 90,611,990 (GRCm39) |
E140K |
probably benign |
Het |
| Aph1a |
G |
A |
3: 95,803,125 (GRCm39) |
V193I |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,299,755 (GRCm39) |
R178* |
probably null |
Het |
| Celf3 |
A |
T |
3: 94,394,108 (GRCm39) |
Q137L |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,635 (GRCm39) |
D2151G |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,079,625 (GRCm39) |
S353T |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,194,414 (GRCm39) |
L1709R |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,229,199 (GRCm39) |
I1939T |
possibly damaging |
Het |
| Emx2 |
A |
T |
19: 59,450,130 (GRCm39) |
N149I |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,142,558 (GRCm39) |
D472G |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,702,762 (GRCm39) |
Y1700C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,180,122 (GRCm39) |
R1406S |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,943,348 (GRCm39) |
T747K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,445,923 (GRCm39) |
M795V |
probably benign |
Het |
| Gm5916 |
A |
G |
9: 36,039,970 (GRCm39) |
L6P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,355 (GRCm39) |
F77L |
possibly damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,395,976 (GRCm39) |
S654P |
possibly damaging |
Het |
| Kdm5c |
T |
A |
X: 151,031,762 (GRCm39) |
F408L |
probably damaging |
Het |
| Kel |
A |
G |
6: 41,679,323 (GRCm39) |
S147P |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,888,307 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Med18 |
A |
T |
4: 132,186,977 (GRCm39) |
V174D |
probably damaging |
Het |
| Mgat4a |
A |
T |
1: 37,502,007 (GRCm39) |
M247K |
possibly damaging |
Het |
| Mx2 |
A |
C |
16: 97,345,795 (GRCm39) |
D71A |
probably damaging |
Het |
| Nxt1 |
G |
T |
2: 148,517,564 (GRCm39) |
E102* |
probably null |
Het |
| Or14j1 |
A |
G |
17: 38,146,169 (GRCm39) |
Q93R |
possibly damaging |
Het |
| Or3a1 |
A |
G |
11: 74,225,862 (GRCm39) |
F65S |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,005 (GRCm39) |
N195S |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,613,161 (GRCm39) |
V707E |
probably benign |
Het |
| Pdzrn4 |
T |
A |
15: 92,667,768 (GRCm39) |
V640E |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,282 (GRCm39) |
|
probably null |
Het |
| Pla2g4a |
A |
T |
1: 149,776,950 (GRCm39) |
D55E |
probably damaging |
Het |
| Plekhg2 |
C |
A |
7: 28,059,501 (GRCm39) |
R1276L |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,290,540 (GRCm39) |
W539* |
probably null |
Het |
| Rae1 |
G |
A |
2: 172,845,306 (GRCm39) |
E33K |
probably damaging |
Het |
| Rbm12b1 |
T |
A |
4: 12,145,563 (GRCm39) |
F512I |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,602,952 (GRCm39) |
D823G |
possibly damaging |
Het |
| Samt3 |
A |
T |
X: 85,090,759 (GRCm39) |
Q217L |
probably damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,605,438 (GRCm39) |
N134S |
probably null |
Het |
| Selenoo |
T |
C |
15: 88,984,173 (GRCm39) |
V663A |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,284 (GRCm39) |
T254N |
probably damaging |
Het |
| Spdya |
A |
G |
17: 71,885,242 (GRCm39) |
K232R |
probably benign |
Het |
| Stom |
A |
T |
2: 35,210,401 (GRCm39) |
V201E |
probably benign |
Het |
| Sycp3 |
A |
G |
10: 88,302,334 (GRCm39) |
K108R |
possibly damaging |
Het |
| Usp2 |
A |
G |
9: 44,000,425 (GRCm39) |
|
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,907,926 (GRCm39) |
S53P |
probably damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,349 (GRCm39) |
G47D |
probably damaging |
Het |
| Vwf |
T |
G |
6: 125,623,318 (GRCm39) |
L1805W |
probably damaging |
Het |
| Washc3 |
A |
T |
10: 88,037,687 (GRCm39) |
Q22L |
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 |
|
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 |
|
|
R1689:Wdr81
|
UTSW |
11 |
75,336,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation