Incidental Mutation 'R0400:Wdr62'
| ID |
38127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
038605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0400 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29940887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 844
(T844S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108190]
[ENSMUST00000134570]
[ENSMUST00000145027]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108190
AA Change: T1315S
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: T1315S
| 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 |
possibly damaging
Transcript: ENSMUST00000134570
AA Change: T844S
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: T844S
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
T |
A |
11: 30,376,360 (GRCm39) |
H169L |
probably benign |
Het |
| 9130230L23Rik |
T |
C |
5: 66,147,699 (GRCm39) |
D28G |
unknown |
Het |
| Abca12 |
T |
A |
1: 71,298,935 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
T |
C |
19: 55,282,143 (GRCm39) |
V573A |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,770,972 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,254,806 (GRCm39) |
|
probably benign |
Het |
| B430305J03Rik |
T |
A |
3: 61,271,556 (GRCm39) |
|
probably benign |
Het |
| Brsk2 |
T |
C |
7: 141,552,290 (GRCm39) |
L584P |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,449,043 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cacul1 |
A |
G |
19: 60,551,591 (GRCm39) |
|
probably benign |
Het |
| Cers3 |
T |
C |
7: 66,414,078 (GRCm39) |
V88A |
probably benign |
Het |
| Cnnm1 |
A |
T |
19: 43,456,803 (GRCm39) |
H614L |
probably damaging |
Het |
| Col1a1 |
T |
A |
11: 94,832,195 (GRCm39) |
|
probably benign |
Het |
| Cyp1b1 |
T |
A |
17: 80,021,016 (GRCm39) |
D242V |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,420,915 (GRCm39) |
M1T |
probably null |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,721,054 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,972,904 (GRCm39) |
S2010P |
probably damaging |
Het |
| Dram2 |
T |
C |
3: 106,480,934 (GRCm39) |
L246P |
probably damaging |
Het |
| Dus2 |
A |
T |
8: 106,775,309 (GRCm39) |
T279S |
probably benign |
Het |
| Epn2 |
T |
C |
11: 61,423,522 (GRCm39) |
|
probably null |
Het |
| Esco2 |
C |
A |
14: 66,069,155 (GRCm39) |
V52F |
possibly damaging |
Het |
| Fbp1 |
T |
A |
13: 63,012,882 (GRCm39) |
T104S |
probably benign |
Het |
| Foxj2 |
A |
T |
6: 122,810,767 (GRCm39) |
Q249L |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 58,037,023 (GRCm39) |
Y122C |
probably damaging |
Het |
| Gimd1 |
T |
C |
3: 132,340,588 (GRCm39) |
Y35H |
probably benign |
Het |
| Gipc2 |
A |
G |
3: 151,871,305 (GRCm39) |
F74L |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,139 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,290,141 (GRCm39) |
T2325A |
probably damaging |
Het |
| Iffo1 |
A |
G |
6: 125,130,434 (GRCm39) |
K471R |
probably damaging |
Het |
| Ireb2 |
G |
A |
9: 54,803,782 (GRCm39) |
R491H |
probably benign |
Het |
| Isg20 |
A |
G |
7: 78,566,473 (GRCm39) |
N141D |
possibly damaging |
Het |
| Kmt5c |
G |
A |
7: 4,749,243 (GRCm39) |
R100H |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
| Lrrn4 |
A |
C |
2: 132,719,940 (GRCm39) |
F287V |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,427 (GRCm39) |
K349E |
probably benign |
Het |
| Mmrn1 |
A |
C |
6: 60,954,099 (GRCm39) |
K793N |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,830 (GRCm39) |
V8227A |
possibly damaging |
Het |
| Myh2 |
C |
T |
11: 67,083,424 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,528,372 (GRCm39) |
|
probably benign |
Het |
| Nfia |
T |
C |
4: 97,951,373 (GRCm39) |
V400A |
probably damaging |
Het |
| Nxph4 |
T |
A |
10: 127,362,127 (GRCm39) |
T255S |
possibly damaging |
Het |
| Olfm5 |
G |
A |
7: 103,803,386 (GRCm39) |
T359I |
probably damaging |
Het |
| Or1e33 |
T |
C |
11: 73,738,867 (GRCm39) |
Y28C |
probably benign |
Het |
| Or5t18 |
A |
G |
2: 86,636,995 (GRCm39) |
M116T |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,207 (GRCm39) |
M81V |
possibly damaging |
Het |
| Or8g21 |
G |
T |
9: 38,906,494 (GRCm39) |
P79Q |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,939,499 (GRCm39) |
I545M |
possibly damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,948 (GRCm39) |
F727L |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,646,818 (GRCm39) |
N202K |
possibly damaging |
Het |
| Phlpp1 |
T |
A |
1: 106,320,664 (GRCm39) |
I1553N |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,045,229 (GRCm39) |
T282A |
probably damaging |
Het |
| Prdm2 |
A |
G |
4: 142,838,240 (GRCm39) |
F1706S |
probably benign |
Het |
| Pycr1 |
G |
A |
11: 120,532,352 (GRCm39) |
|
probably benign |
Het |
| Rigi |
A |
G |
4: 40,235,257 (GRCm39) |
Y78H |
probably benign |
Het |
| Skint9 |
A |
G |
4: 112,271,198 (GRCm39) |
S71P |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,098,399 (GRCm39) |
|
probably benign |
Het |
| Snapc5 |
A |
T |
9: 64,087,789 (GRCm39) |
E33D |
probably damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,256,443 (GRCm39) |
L56P |
probably damaging |
Het |
| Stab2 |
A |
C |
10: 86,708,474 (GRCm39) |
I1697S |
probably damaging |
Het |
| Tfap2a |
G |
T |
13: 40,870,888 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
A |
G |
10: 114,916,025 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,077 (GRCm39) |
V118A |
probably benign |
Het |
| Ttbk2 |
T |
A |
2: 120,580,723 (GRCm39) |
T538S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,545,616 (GRCm39) |
V32569A |
possibly damaging |
Het |
| U2af1 |
T |
A |
17: 31,867,166 (GRCm39) |
Y158F |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,534,496 (GRCm39) |
|
probably benign |
Het |
| Vdr |
A |
G |
15: 97,767,232 (GRCm39) |
S179P |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,792,397 (GRCm39) |
S663A |
probably benign |
Het |
| Wipi1 |
C |
T |
11: 109,467,956 (GRCm39) |
R407Q |
probably damaging |
Het |
| Zbtb43 |
A |
G |
2: 33,343,909 (GRCm39) |
C439R |
probably damaging |
Het |
| Zfp507 |
T |
A |
7: 35,491,171 (GRCm39) |
H704L |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,786,068 (GRCm39) |
R2080K |
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 |
|
|
IGL02739:Wdr62
|
APN |
7 |
29,941,885 (GRCm39) |
nonsense |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGAGTGAACCTGGCACAG -3'
(R):5'- ACGACACGCAGCATCTCTCTTG -3'
Sequencing Primer
(F):5'- CCTAGACCTGGTCTCTAGAAGTTG -3'
(R):5'- AGCATCTCTCTTGGGGACAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation