Incidental Mutation 'R0621:Wdr62'
ID |
58667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr62
|
Ensembl Gene |
ENSMUSG00000037020 |
Gene Name |
WD repeat domain 62 |
Synonyms |
2310038K02Rik |
MMRRC Submission |
038810-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0621 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29953486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 182
(E182G)
|
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: E628G
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103825 Gene: ENSMUSG00000037020 AA Change: E628G
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 |
possibly damaging
Transcript: ENSMUST00000134570
AA Change: E182G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116139 Gene: ENSMUSG00000037020 AA Change: E182G
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
AA Change: E628G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116772 Gene: ENSMUSG00000037020 AA Change: E628G
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: ENSMUST00000152234
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
T |
C |
11: 76,399,898 (GRCm39) |
D33G |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,748,359 (GRCm39) |
S520T |
probably damaging |
Het |
Afg2a |
C |
T |
3: 37,486,178 (GRCm39) |
T300I |
probably benign |
Het |
Ankrd40 |
A |
G |
11: 94,230,433 (GRCm39) |
|
probably null |
Het |
Aph1b |
A |
T |
9: 66,686,616 (GRCm39) |
I177K |
possibly damaging |
Het |
Armc3 |
A |
T |
2: 19,300,204 (GRCm39) |
N579I |
probably damaging |
Het |
Atxn7l1 |
T |
C |
12: 33,376,099 (GRCm39) |
V131A |
probably benign |
Het |
C130073F10Rik |
A |
G |
4: 101,747,992 (GRCm39) |
Y61H |
probably damaging |
Het |
C1s2 |
A |
T |
6: 124,608,071 (GRCm39) |
L214Q |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,760,176 (GRCm39) |
S425T |
possibly damaging |
Het |
Cdc42ep4 |
G |
A |
11: 113,619,522 (GRCm39) |
R290C |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,404,825 (GRCm39) |
T352A |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,943,990 (GRCm39) |
F1161L |
probably damaging |
Het |
Dctn2 |
T |
C |
10: 127,113,809 (GRCm39) |
|
probably null |
Het |
Ddx24 |
T |
C |
12: 103,391,817 (GRCm39) |
|
probably benign |
Het |
Dsg1c |
C |
A |
18: 20,412,752 (GRCm39) |
A591D |
possibly damaging |
Het |
Efnb3 |
T |
C |
11: 69,446,798 (GRCm39) |
D304G |
probably damaging |
Het |
Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
Eya3 |
T |
G |
4: 132,422,113 (GRCm39) |
D275E |
probably benign |
Het |
Fam81a |
G |
T |
9: 70,000,929 (GRCm39) |
Q272K |
probably benign |
Het |
Foxf1 |
T |
C |
8: 121,811,919 (GRCm39) |
V261A |
probably damaging |
Het |
Gm9637 |
G |
A |
14: 19,402,011 (GRCm38) |
|
noncoding transcript |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Gtf2h2 |
A |
T |
13: 100,625,433 (GRCm39) |
L61Q |
probably damaging |
Het |
Hey2 |
T |
A |
10: 30,710,382 (GRCm39) |
I124F |
probably benign |
Het |
Hoxb3 |
A |
T |
11: 96,236,789 (GRCm39) |
Y289F |
probably damaging |
Het |
Kctd3 |
C |
T |
1: 188,713,538 (GRCm39) |
R399Q |
probably damaging |
Het |
Kif26b |
C |
G |
1: 178,743,218 (GRCm39) |
P1105A |
probably benign |
Het |
Klhl30 |
C |
T |
1: 91,285,585 (GRCm39) |
T369M |
probably damaging |
Het |
Lipo2 |
C |
T |
19: 33,708,339 (GRCm39) |
G225D |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,274,327 (GRCm39) |
K6350E |
probably damaging |
Het |
Myh13 |
A |
C |
11: 67,232,058 (GRCm39) |
N446T |
probably damaging |
Het |
Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
Or10j2 |
C |
T |
1: 173,098,242 (GRCm39) |
P167S |
possibly damaging |
Het |
Or11h7 |
G |
A |
14: 50,891,419 (GRCm39) |
G242R |
possibly damaging |
Het |
Or4a77 |
C |
A |
2: 89,487,459 (GRCm39) |
E109* |
probably null |
Het |
Pde3a |
T |
C |
6: 141,195,725 (GRCm39) |
L137P |
probably damaging |
Het |
Ppm1f |
G |
A |
16: 16,733,172 (GRCm39) |
R233Q |
probably benign |
Het |
Rtf2 |
C |
A |
2: 172,308,216 (GRCm39) |
A205E |
possibly damaging |
Het |
Sh2d5 |
T |
C |
4: 137,985,629 (GRCm39) |
F359S |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Slc39a11 |
G |
A |
11: 113,354,905 (GRCm39) |
P108L |
probably benign |
Het |
Slc6a5 |
G |
A |
7: 49,567,113 (GRCm39) |
|
probably null |
Het |
Snph |
C |
T |
2: 151,435,642 (GRCm39) |
V360M |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,223,651 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,759,408 (GRCm39) |
|
probably null |
Het |
St8sia6 |
T |
A |
2: 13,662,093 (GRCm39) |
N246I |
probably damaging |
Het |
Thy1 |
T |
A |
9: 43,958,030 (GRCm39) |
F53I |
probably damaging |
Het |
Tle3 |
T |
A |
9: 61,317,387 (GRCm39) |
Y421* |
probably null |
Het |
Ttc21b |
C |
T |
2: 66,056,355 (GRCm39) |
R677Q |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,595,252 (GRCm39) |
I602F |
probably benign |
Het |
Wdr17 |
C |
A |
8: 55,096,226 (GRCm39) |
G1016C |
probably benign |
Het |
Zfp597 |
A |
G |
16: 3,684,228 (GRCm39) |
I176T |
probably benign |
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 |
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'- GCCTTACCAGCTTCTCCAGAAACAG -3'
(R):5'- GCACCAGAGATGTCCAGATGATCAG -3'
Sequencing Primer
(F):5'- AAAGCAGGCAGTGTCTCCTC -3'
(R):5'- CCAGATGATCAGTTGTGGAGC -3'
|
Posted On |
2013-07-11 |