Incidental Mutation 'IGL02739:Wdr62'
ID |
305819 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr62
|
Ensembl Gene |
ENSMUSG00000037020 |
Gene Name |
WD repeat domain 62 |
Synonyms |
2310038K02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02739
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 29941885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 640
(Y640*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000134570]
[ENSMUST00000145027]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000108190
AA Change: Y1111*
|
SMART Domains |
Protein: ENSMUSP00000103825 Gene: ENSMUSG00000037020 AA Change: Y1111*
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
53 |
N/A |
INTRINSIC |
WD40
|
101 |
142 |
4.24e-3 |
SMART |
WD40
|
145 |
186 |
1.03e-1 |
SMART |
WD40
|
189 |
226 |
7.4e0 |
SMART |
WD40
|
284 |
322 |
3.55e1 |
SMART |
WD40
|
353 |
388 |
1.85e0 |
SMART |
WD40
|
395 |
442 |
2.98e-1 |
SMART |
WD40
|
482 |
521 |
2.77e-1 |
SMART |
WD40
|
524 |
566 |
2.3e0 |
SMART |
WD40
|
570 |
610 |
4.18e-2 |
SMART |
WD40
|
615 |
657 |
1.54e0 |
SMART |
WD40
|
660 |
702 |
8.49e-3 |
SMART |
WD40
|
705 |
744 |
3.61e-6 |
SMART |
low complexity region
|
763 |
768 |
N/A |
INTRINSIC |
low complexity region
|
797 |
811 |
N/A |
INTRINSIC |
low complexity region
|
980 |
987 |
N/A |
INTRINSIC |
low complexity region
|
1215 |
1226 |
N/A |
INTRINSIC |
low complexity region
|
1302 |
1313 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1497 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133347
|
Predicted Effect |
probably null
Transcript: ENSMUST00000134570
AA Change: Y640*
|
SMART Domains |
Protein: ENSMUSP00000116139 Gene: ENSMUSG00000037020 AA Change: Y640*
Domain | Start | End | E-Value | Type |
WD40
|
36 |
75 |
2.77e-1 |
SMART |
WD40
|
78 |
120 |
2.3e0 |
SMART |
WD40
|
124 |
164 |
4.18e-2 |
SMART |
WD40
|
169 |
211 |
1.54e0 |
SMART |
WD40
|
214 |
256 |
8.49e-3 |
SMART |
WD40
|
259 |
298 |
3.61e-6 |
SMART |
low complexity region
|
317 |
322 |
N/A |
INTRINSIC |
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
low complexity region
|
512 |
519 |
N/A |
INTRINSIC |
low complexity region
|
744 |
755 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
low complexity region
|
1006 |
1026 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145027
|
SMART Domains |
Protein: ENSMUSP00000116772 Gene: ENSMUSG00000037020
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
53 |
N/A |
INTRINSIC |
WD40
|
101 |
142 |
4.24e-3 |
SMART |
WD40
|
145 |
186 |
1.03e-1 |
SMART |
WD40
|
189 |
226 |
7.4e0 |
SMART |
WD40
|
284 |
322 |
3.55e1 |
SMART |
WD40
|
353 |
388 |
1.85e0 |
SMART |
WD40
|
395 |
442 |
2.98e-1 |
SMART |
WD40
|
482 |
521 |
2.77e-1 |
SMART |
WD40
|
524 |
566 |
2.3e0 |
SMART |
WD40
|
570 |
610 |
4.18e-2 |
SMART |
WD40
|
615 |
657 |
1.54e0 |
SMART |
WD40
|
660 |
702 |
8.49e-3 |
SMART |
WD40
|
705 |
744 |
3.61e-6 |
SMART |
low complexity region
|
763 |
768 |
N/A |
INTRINSIC |
low complexity region
|
797 |
811 |
N/A |
INTRINSIC |
low complexity region
|
980 |
987 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152543
|
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 is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011] PHENOTYPE: Mice for a hypomorphic allele exhibit reduced brain size due to decreased neural progenitor cells. Cells show spindle instability, spindle assembly checkpoint activation, mitotic arrest and cell death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,026,364 (GRCm39) |
C887S |
possibly damaging |
Het |
Adamdec1 |
C |
A |
14: 68,807,605 (GRCm39) |
E352* |
probably null |
Het |
Bglap2 |
A |
T |
3: 88,285,319 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,989,745 (GRCm39) |
H2002Q |
probably benign |
Het |
Chtop |
T |
A |
3: 90,409,557 (GRCm39) |
Q165L |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,263,714 (GRCm39) |
|
probably null |
Het |
Ctsr |
T |
C |
13: 61,309,658 (GRCm39) |
T184A |
probably benign |
Het |
Defb36 |
T |
C |
2: 152,446,439 (GRCm39) |
L11P |
unknown |
Het |
Dock8 |
A |
G |
19: 25,165,852 (GRCm39) |
E1912G |
probably damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,756 (GRCm39) |
Y106H |
probably damaging |
Het |
Epas1 |
A |
G |
17: 87,112,710 (GRCm39) |
T103A |
probably damaging |
Het |
Epcam |
A |
T |
17: 87,947,922 (GRCm39) |
T131S |
probably benign |
Het |
Fam169a |
A |
G |
13: 97,230,563 (GRCm39) |
|
probably benign |
Het |
Gh |
T |
A |
11: 106,192,559 (GRCm39) |
|
probably benign |
Het |
Kif20a |
A |
T |
18: 34,761,996 (GRCm39) |
K399* |
probably null |
Het |
Lrp1b |
A |
G |
2: 41,388,227 (GRCm39) |
I466T |
probably damaging |
Het |
Nlk |
A |
G |
11: 78,465,677 (GRCm39) |
V409A |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,693,731 (GRCm39) |
|
probably null |
Het |
Nr2c1 |
T |
A |
10: 93,992,834 (GRCm39) |
M16K |
probably damaging |
Het |
Nxph2 |
A |
T |
2: 23,289,912 (GRCm39) |
Q88L |
probably benign |
Het |
Or51a39 |
A |
G |
7: 102,363,521 (GRCm39) |
I33T |
possibly damaging |
Het |
Pkdrej |
T |
A |
15: 85,703,895 (GRCm39) |
R680S |
probably benign |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,346 (GRCm39) |
N2325I |
probably benign |
Het |
Pnliprp2 |
T |
C |
19: 58,748,941 (GRCm39) |
|
probably null |
Het |
Ppp1r42 |
T |
A |
1: 10,039,078 (GRCm39) |
K347N |
probably benign |
Het |
Prtg |
T |
C |
9: 72,758,867 (GRCm39) |
V407A |
possibly damaging |
Het |
Psmb8 |
C |
A |
17: 34,419,728 (GRCm39) |
S194* |
probably null |
Het |
Rnf214 |
T |
C |
9: 45,780,772 (GRCm39) |
I406V |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,077,797 (GRCm39) |
S3L |
probably damaging |
Het |
Sdad1 |
C |
T |
5: 92,437,931 (GRCm39) |
A539T |
probably benign |
Het |
Sema3a |
A |
G |
5: 13,501,128 (GRCm39) |
Y57C |
probably damaging |
Het |
Susd5 |
A |
G |
9: 113,925,101 (GRCm39) |
E328G |
possibly damaging |
Het |
Syngr3 |
T |
C |
17: 24,905,372 (GRCm39) |
T175A |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,281 (GRCm39) |
Q390L |
probably damaging |
Het |
Tex15 |
A |
G |
8: 34,071,721 (GRCm39) |
T2423A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,469 (GRCm39) |
N36S |
probably benign |
Het |
Uchl4 |
C |
T |
9: 64,142,819 (GRCm39) |
T100M |
probably damaging |
Het |
Uhrf1 |
A |
G |
17: 56,612,129 (GRCm39) |
K11R |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,880,046 (GRCm39) |
D3040E |
probably damaging |
Het |
Zkscan17 |
T |
G |
11: 59,394,352 (GRCm39) |
E83A |
probably damaging |
Het |
|
Other mutations in Wdr62 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Wdr62
|
APN |
7 |
29,942,948 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00428:Wdr62
|
APN |
7 |
29,970,177 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00579:Wdr62
|
APN |
7 |
29,967,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00709:Wdr62
|
APN |
7 |
29,941,486 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00924:Wdr62
|
APN |
7 |
29,942,231 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00924:Wdr62
|
APN |
7 |
29,964,643 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00956:Wdr62
|
APN |
7 |
29,960,764 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01016:Wdr62
|
APN |
7 |
29,953,676 (GRCm39) |
missense |
probably benign |
0.39 |
IGL01118:Wdr62
|
APN |
7 |
29,942,206 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01458:Wdr62
|
APN |
7 |
29,941,187 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01977:Wdr62
|
APN |
7 |
29,957,526 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02065:Wdr62
|
APN |
7 |
29,942,894 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02155:Wdr62
|
APN |
7 |
29,962,068 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02260:Wdr62
|
APN |
7 |
29,970,207 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02404:Wdr62
|
APN |
7 |
29,967,298 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02491:Wdr62
|
APN |
7 |
29,942,184 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02556:Wdr62
|
APN |
7 |
29,944,709 (GRCm39) |
splice site |
probably null |
|
IGL03387:Wdr62
|
APN |
7 |
29,970,199 (GRCm39) |
missense |
possibly damaging |
0.90 |
ivoire
|
UTSW |
7 |
29,971,045 (GRCm39) |
missense |
probably damaging |
1.00 |
I0000:Wdr62
|
UTSW |
7 |
29,944,752 (GRCm39) |
missense |
probably benign |
0.03 |
R0304:Wdr62
|
UTSW |
7 |
29,942,299 (GRCm39) |
missense |
probably benign |
0.20 |
R0371:Wdr62
|
UTSW |
7 |
29,941,583 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0400:Wdr62
|
UTSW |
7 |
29,940,887 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0621:Wdr62
|
UTSW |
7 |
29,953,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0634:Wdr62
|
UTSW |
7 |
29,969,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R1758:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R2205:Wdr62
|
UTSW |
7 |
29,957,574 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2254:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R2255:Wdr62
|
UTSW |
7 |
29,967,328 (GRCm39) |
missense |
probably damaging |
0.97 |
R2566:Wdr62
|
UTSW |
7 |
29,973,424 (GRCm39) |
missense |
probably damaging |
1.00 |
R2851:Wdr62
|
UTSW |
7 |
29,960,862 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3150:Wdr62
|
UTSW |
7 |
29,971,095 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4355:Wdr62
|
UTSW |
7 |
29,941,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4517:Wdr62
|
UTSW |
7 |
29,969,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Wdr62
|
UTSW |
7 |
29,970,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Wdr62
|
UTSW |
7 |
29,940,890 (GRCm39) |
missense |
probably benign |
0.00 |
R5193:Wdr62
|
UTSW |
7 |
29,964,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R5289:Wdr62
|
UTSW |
7 |
29,967,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R5306:Wdr62
|
UTSW |
7 |
29,964,688 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5878:Wdr62
|
UTSW |
7 |
29,940,772 (GRCm39) |
missense |
probably benign |
|
R5942:Wdr62
|
UTSW |
7 |
29,942,504 (GRCm39) |
nonsense |
probably null |
|
R6051:Wdr62
|
UTSW |
7 |
29,960,809 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6237:Wdr62
|
UTSW |
7 |
29,941,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6727:Wdr62
|
UTSW |
7 |
29,971,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Wdr62
|
UTSW |
7 |
29,970,163 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7208:Wdr62
|
UTSW |
7 |
29,951,761 (GRCm39) |
missense |
probably damaging |
0.97 |
R7237:Wdr62
|
UTSW |
7 |
29,969,869 (GRCm39) |
splice site |
probably null |
|
R7336:Wdr62
|
UTSW |
7 |
29,943,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R7559:Wdr62
|
UTSW |
7 |
29,970,198 (GRCm39) |
missense |
probably damaging |
0.98 |
R7845:Wdr62
|
UTSW |
7 |
29,964,667 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7936:Wdr62
|
UTSW |
7 |
29,964,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R8002:Wdr62
|
UTSW |
7 |
29,951,785 (GRCm39) |
missense |
probably damaging |
1.00 |
R8347:Wdr62
|
UTSW |
7 |
29,962,128 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8399:Wdr62
|
UTSW |
7 |
29,957,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R8954:Wdr62
|
UTSW |
7 |
29,953,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R9044:Wdr62
|
UTSW |
7 |
29,962,062 (GRCm39) |
missense |
probably benign |
|
R9166:Wdr62
|
UTSW |
7 |
29,941,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R9212:Wdr62
|
UTSW |
7 |
29,942,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R9748:Wdr62
|
UTSW |
7 |
29,953,466 (GRCm39) |
missense |
possibly damaging |
0.80 |
Z1176:Wdr62
|
UTSW |
7 |
29,955,353 (GRCm39) |
missense |
probably benign |
0.00 |
Z1186:Wdr62
|
UTSW |
7 |
29,950,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |