Incidental Mutation 'R2205:Wdr62'
ID |
238978 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr62
|
Ensembl Gene |
ENSMUSG00000037020 |
Gene Name |
WD repeat domain 62 |
Synonyms |
2310038K02Rik |
MMRRC Submission |
040207-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2205 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
29939563-29979844 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 29957574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000103825 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 |
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 |
probably null
Transcript: ENSMUST00000134570
|
SMART Domains |
Protein: ENSMUSP00000116139 Gene: ENSMUSG00000037020
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
C |
G |
11: 48,910,149 (GRCm39) |
L761F |
probably damaging |
Het |
Abca14 |
T |
C |
7: 119,846,503 (GRCm39) |
S652P |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,214,833 (GRCm39) |
G75S |
probably damaging |
Het |
Adamts7 |
A |
T |
9: 90,062,729 (GRCm39) |
K394N |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,793,220 (GRCm39) |
E1487G |
possibly damaging |
Het |
Aknad1 |
A |
G |
3: 108,664,609 (GRCm39) |
D406G |
probably damaging |
Het |
Albfm1 |
A |
G |
5: 90,717,421 (GRCm39) |
T201A |
possibly damaging |
Het |
Ankrd2 |
C |
A |
19: 42,032,558 (GRCm39) |
A273E |
probably damaging |
Het |
Ankrd26 |
T |
A |
6: 118,500,843 (GRCm39) |
H876L |
possibly damaging |
Het |
Arhgap35 |
A |
T |
7: 16,231,950 (GRCm39) |
|
probably null |
Het |
Bag6 |
G |
A |
17: 35,363,583 (GRCm39) |
G751R |
probably damaging |
Het |
Brat1 |
G |
A |
5: 140,690,888 (GRCm39) |
|
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,599,234 (GRCm39) |
A1742T |
probably damaging |
Het |
Catsperg1 |
G |
A |
7: 28,884,671 (GRCm39) |
Q922* |
probably null |
Het |
Cfap221 |
T |
G |
1: 119,863,834 (GRCm39) |
Y570S |
possibly damaging |
Het |
Cfap45 |
T |
C |
1: 172,359,728 (GRCm39) |
V76A |
probably benign |
Het |
Chil3 |
T |
C |
3: 106,071,562 (GRCm39) |
D34G |
probably benign |
Het |
Cpa1 |
A |
G |
6: 30,641,818 (GRCm39) |
D214G |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,693,070 (GRCm39) |
Y739H |
probably damaging |
Het |
Cttnbp2 |
T |
G |
6: 18,408,693 (GRCm39) |
D976A |
probably benign |
Het |
Dhrs7 |
A |
T |
12: 72,703,144 (GRCm39) |
V188E |
probably damaging |
Het |
Dpp9 |
A |
C |
17: 56,506,287 (GRCm39) |
I411S |
possibly damaging |
Het |
Elapor1 |
C |
T |
3: 108,382,359 (GRCm39) |
G270E |
probably damaging |
Het |
Fitm2 |
G |
A |
2: 163,314,516 (GRCm39) |
|
probably benign |
Het |
Flnc |
C |
T |
6: 29,459,507 (GRCm39) |
P2536S |
probably damaging |
Het |
Gm6370 |
T |
A |
5: 146,430,539 (GRCm39) |
D241E |
probably benign |
Het |
Gpatch1 |
C |
A |
7: 34,991,197 (GRCm39) |
D616Y |
probably damaging |
Het |
Gpc3 |
T |
A |
X: 51,486,083 (GRCm39) |
I344F |
probably damaging |
Het |
Hmgcs2 |
T |
A |
3: 98,198,499 (GRCm39) |
I134N |
probably damaging |
Het |
Hoxb3 |
T |
A |
11: 96,236,494 (GRCm39) |
S191T |
probably benign |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,741 (GRCm39) |
E239K |
probably benign |
Het |
Ints8 |
A |
T |
4: 11,225,712 (GRCm39) |
M615K |
possibly damaging |
Het |
Irak1 |
G |
A |
X: 73,060,744 (GRCm39) |
T193I |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,041,173 (GRCm39) |
T1134I |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,035,424 (GRCm39) |
I510V |
probably benign |
Het |
Nipsnap1 |
C |
A |
11: 4,839,974 (GRCm39) |
H232N |
possibly damaging |
Het |
Nme4 |
A |
T |
17: 26,311,114 (GRCm39) |
H150Q |
possibly damaging |
Het |
Nudt5 |
A |
T |
2: 5,860,794 (GRCm39) |
I22F |
possibly damaging |
Het |
P2rx7 |
T |
A |
5: 122,819,164 (GRCm39) |
Y529N |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,103,167 (GRCm39) |
M267K |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,594,997 (GRCm39) |
D320G |
probably damaging |
Het |
Rdm1 |
C |
A |
11: 101,525,629 (GRCm39) |
A225E |
probably damaging |
Het |
Samm50 |
G |
A |
15: 84,086,515 (GRCm39) |
A245T |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,386,028 (GRCm39) |
M597K |
possibly damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Ssh3 |
A |
G |
19: 4,319,101 (GRCm39) |
L3P |
probably damaging |
Het |
Stoml2 |
G |
T |
4: 43,030,243 (GRCm39) |
Y119* |
probably null |
Het |
Tbc1d31 |
A |
G |
15: 57,816,916 (GRCm39) |
D717G |
probably benign |
Het |
Timd5 |
A |
G |
11: 46,419,394 (GRCm39) |
N70S |
probably benign |
Het |
Tma7 |
C |
A |
9: 108,911,294 (GRCm39) |
|
probably benign |
Het |
Tmc1 |
A |
T |
19: 20,918,269 (GRCm39) |
L2M |
probably benign |
Het |
Tmem39b |
A |
C |
4: 129,587,716 (GRCm39) |
S32A |
probably benign |
Het |
Tnfsf14 |
T |
C |
17: 57,497,638 (GRCm39) |
D198G |
possibly damaging |
Het |
Tns3 |
T |
C |
11: 8,481,719 (GRCm39) |
Y211C |
probably damaging |
Het |
Ttc21b |
C |
T |
2: 66,065,467 (GRCm39) |
G436S |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,681,907 (GRCm39) |
|
probably benign |
Het |
Ube3b |
G |
A |
5: 114,527,135 (GRCm39) |
V118M |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,335,147 (GRCm39) |
T1210A |
probably damaging |
Het |
Vmn1r23 |
T |
C |
6: 57,903,604 (GRCm39) |
D58G |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,250,083 (GRCm39) |
N729K |
probably benign |
Het |
Ywhah |
A |
G |
5: 33,184,484 (GRCm39) |
N229S |
probably damaging |
Het |
Zbtb47 |
A |
G |
9: 121,591,703 (GRCm39) |
T8A |
possibly damaging |
Het |
Zfyve27 |
C |
A |
19: 42,171,885 (GRCm39) |
A139D |
probably damaging |
Het |
Zmat1 |
A |
G |
X: 133,873,861 (GRCm39) |
L476P |
possibly damaging |
Het |
Zswim4 |
G |
T |
8: 84,952,498 (GRCm39) |
T488N |
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 |
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'- CCAGAGTCTAGCAACAGAGC -3'
(R):5'- CTTTGCTCCAGAGGACTGTC -3'
Sequencing Primer
(F):5'- CAGAGCTCTTATTGAAGATTCCCAC -3'
(R):5'- ACAGCCCCTGTGGTTATATTTTGAC -3'
|
Posted On |
2014-10-02 |