Incidental Mutation 'R5878:Wdr62'
| ID |
455654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr62
|
| Ensembl Gene |
ENSMUSG00000037020 |
| Gene Name |
WD repeat domain 62 |
| Synonyms |
2310038K02Rik |
| MMRRC Submission |
044084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5878 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29940772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 882
(M882T)
|
| 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 benign
Transcript: ENSMUST00000108190
AA Change: M1353T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020
AA Change: M1353T
| 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 benign
Transcript: ENSMUST00000134570
AA Change: M882T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116139
Gene: ENSMUSG00000037020
AA Change: M882T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
99% (66/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,385,792 (GRCm39) |
N275K |
possibly damaging |
Het |
| Abhd6 |
G |
A |
14: 8,028,286 (GRCm38) |
V6I |
probably benign |
Het |
| Afap1l2 |
T |
C |
19: 56,904,107 (GRCm39) |
T727A |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,506,065 (GRCm39) |
E174G |
probably benign |
Het |
| Ahnak |
T |
G |
19: 8,985,706 (GRCm39) |
L2330R |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,186 (GRCm39) |
V129E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,712,137 (GRCm39) |
T1205A |
probably benign |
Het |
| Ccdc3 |
T |
C |
2: 5,233,827 (GRCm39) |
L217P |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,800,423 (GRCm39) |
D1595G |
probably benign |
Het |
| Cps1 |
G |
T |
1: 67,197,037 (GRCm39) |
|
probably null |
Het |
| Fam120b |
A |
G |
17: 15,622,502 (GRCm39) |
D160G |
probably damaging |
Het |
| Fezf1 |
C |
A |
6: 23,247,580 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,225,145 (GRCm39) |
L838H |
probably benign |
Het |
| Frmd3 |
G |
A |
4: 74,071,847 (GRCm39) |
G243D |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,120,867 (GRCm39) |
|
probably null |
Het |
| Gm10188 |
T |
C |
1: 132,156,940 (GRCm39) |
|
probably benign |
Het |
| Gm5190 |
T |
A |
12: 113,360,859 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
C |
11: 57,208,628 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
A |
G |
6: 120,491,485 (GRCm39) |
L206P |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,773,996 (GRCm39) |
N1149S |
probably benign |
Het |
| Inca1 |
G |
A |
11: 70,586,808 (GRCm39) |
|
probably benign |
Het |
| Iqch |
G |
A |
9: 63,455,272 (GRCm39) |
S175F |
probably damaging |
Het |
| Itpr3 |
T |
G |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
| Khk |
T |
A |
5: 31,088,219 (GRCm39) |
|
probably null |
Het |
| Kiz |
C |
T |
2: 146,731,521 (GRCm39) |
S337L |
probably damaging |
Het |
| Lzts3 |
G |
A |
2: 130,478,459 (GRCm39) |
T213I |
probably damaging |
Het |
| Mab21l2 |
T |
A |
3: 86,454,025 (GRCm39) |
D325V |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,863,856 (GRCm39) |
S336P |
probably benign |
Het |
| Me3 |
T |
A |
7: 89,497,214 (GRCm39) |
L405Q |
probably benign |
Het |
| Mgst2 |
A |
T |
3: 51,568,651 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
A |
G |
11: 67,083,330 (GRCm39) |
E1431G |
probably damaging |
Het |
| Naip6 |
A |
G |
13: 100,436,181 (GRCm39) |
S781P |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,634,897 (GRCm39) |
|
probably null |
Het |
| Or10ab5 |
A |
T |
7: 108,244,946 (GRCm39) |
L279Q |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,449 (GRCm39) |
Y134H |
probably damaging |
Het |
| Or6x1 |
C |
T |
9: 40,098,867 (GRCm39) |
T152I |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,435,166 (GRCm39) |
R132L |
possibly damaging |
Het |
| Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,739 (GRCm39) |
G763W |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,168,204 (GRCm39) |
N9S |
possibly damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,089,080 (GRCm39) |
I147T |
probably benign |
Het |
| Polh |
T |
A |
17: 46,505,251 (GRCm39) |
T122S |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,624,984 (GRCm39) |
V96A |
possibly damaging |
Het |
| Ptpn6 |
C |
A |
6: 124,705,748 (GRCm39) |
C132F |
probably damaging |
Het |
| Rbm19 |
T |
A |
5: 120,270,932 (GRCm39) |
V585E |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,620,685 (GRCm39) |
S387T |
probably benign |
Het |
| Rp1l1 |
C |
T |
14: 64,266,355 (GRCm39) |
P647L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,266,649 (GRCm39) |
E72G |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,798,742 (GRCm39) |
H392Q |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,065,093 (GRCm39) |
R371Q |
possibly damaging |
Het |
| Slc13a5 |
G |
A |
11: 72,144,217 (GRCm39) |
T287I |
possibly damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,904,122 (GRCm39) |
E5V |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,590,465 (GRCm39) |
V293A |
probably damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,391,561 (GRCm39) |
|
probably benign |
Het |
| Sri |
G |
C |
5: 8,109,353 (GRCm39) |
D46H |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,800 (GRCm39) |
D207G |
possibly damaging |
Het |
| Tigd4 |
T |
C |
3: 84,501,749 (GRCm39) |
M222T |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,172 (GRCm39) |
D194G |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,195,753 (GRCm39) |
V1259A |
possibly damaging |
Het |
| Trdv5 |
T |
C |
14: 54,386,255 (GRCm39) |
D70G |
probably benign |
Het |
| Trim52 |
T |
A |
14: 106,344,375 (GRCm39) |
M11K |
probably damaging |
Het |
| Ybx3 |
A |
G |
6: 131,344,726 (GRCm39) |
|
probably null |
Het |
| Zfand2b |
A |
G |
1: 75,147,154 (GRCm39) |
|
probably benign |
Het |
| Zfp91 |
T |
A |
19: 12,747,684 (GRCm39) |
T480S |
possibly 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 |
|
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 |
|
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'- TGCATGAGTGAACCTGGCAC -3'
(R):5'- ATCCAGTGTCTGTGAGCAGC -3'
Sequencing Primer
(F):5'- CAGGCTGTGTCCACTTGG -3'
(R):5'- GCAGCTGCTCTCTCCAC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation