Incidental Mutation 'IGL01385:Wdr11'
| ID |
79005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL01385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129209637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 482
(M482V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084519
AA Change: M482V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: M482V
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
50 |
99 |
2e-1 |
SMART |
|
WD40
|
102 |
145 |
2.84e2 |
SMART |
|
low complexity region
|
189 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
465 |
N/A |
INTRINSIC |
|
WD40
|
552 |
595 |
4.42e1 |
SMART |
|
WD40
|
696 |
735 |
1.66e0 |
SMART |
|
WD40
|
737 |
777 |
1.43e1 |
SMART |
|
WD40
|
780 |
821 |
1.38e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206442
AA Change: M36V
|
| 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 encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
| Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
| Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,354,101 (GRCm39) |
T4A |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
| Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
| Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
| Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
| Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
| Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
| Other mutations in Wdr11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Wdr11
|
APN |
7 |
129,194,817 (GRCm39) |
splice site |
probably null |
|
|
IGL01121:Wdr11
|
APN |
7 |
129,229,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01923:Wdr11
|
APN |
7 |
129,234,046 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02274:Wdr11
|
APN |
7 |
129,232,896 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Wdr11
|
APN |
7 |
129,232,890 (GRCm39) |
splice site |
probably benign |
|
|
IGL02927:Wdr11
|
APN |
7 |
129,208,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03008:Wdr11
|
APN |
7 |
129,208,715 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03026:Wdr11
|
APN |
7 |
129,226,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Wdr11
|
APN |
7 |
129,227,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03379:Wdr11
|
APN |
7 |
129,200,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
beeline
|
UTSW |
7 |
129,207,437 (GRCm39) |
nonsense |
probably null |
|
|
bekummernis
|
UTSW |
7 |
129,226,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
hort
|
UTSW |
7 |
129,232,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
Knees
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
Propeller
|
UTSW |
7 |
129,208,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Zuversicht
|
UTSW |
7 |
129,208,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0003:Wdr11
|
UTSW |
7 |
129,200,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Wdr11
|
UTSW |
7 |
129,208,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Wdr11
|
UTSW |
7 |
129,208,831 (GRCm39) |
unclassified |
probably benign |
|
|
R1645:Wdr11
|
UTSW |
7 |
129,215,613 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1908:Wdr11
|
UTSW |
7 |
129,206,954 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1938:Wdr11
|
UTSW |
7 |
129,208,331 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2122:Wdr11
|
UTSW |
7 |
129,233,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Wdr11
|
UTSW |
7 |
129,230,807 (GRCm39) |
splice site |
probably null |
|
|
R2240:Wdr11
|
UTSW |
7 |
129,207,418 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2362:Wdr11
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3774:Wdr11
|
UTSW |
7 |
129,233,417 (GRCm39) |
splice site |
probably null |
|
|
R4297:Wdr11
|
UTSW |
7 |
129,226,910 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4546:Wdr11
|
UTSW |
7 |
129,230,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Wdr11
|
UTSW |
7 |
129,210,658 (GRCm39) |
splice site |
probably benign |
|
|
R4789:Wdr11
|
UTSW |
7 |
129,220,394 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Wdr11
|
UTSW |
7 |
129,229,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4855:Wdr11
|
UTSW |
7 |
129,202,158 (GRCm39) |
splice site |
probably null |
|
|
R4898:Wdr11
|
UTSW |
7 |
129,235,445 (GRCm39) |
missense |
probably benign |
|
|
R5022:Wdr11
|
UTSW |
7 |
129,226,435 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5326:Wdr11
|
UTSW |
7 |
129,226,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Wdr11
|
UTSW |
7 |
129,232,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Wdr11
|
UTSW |
7 |
129,226,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6136:Wdr11
|
UTSW |
7 |
129,220,427 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6280:Wdr11
|
UTSW |
7 |
129,200,830 (GRCm39) |
nonsense |
probably null |
|
|
R6352:Wdr11
|
UTSW |
7 |
129,208,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6432:Wdr11
|
UTSW |
7 |
129,208,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6766:Wdr11
|
UTSW |
7 |
129,226,036 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6911:Wdr11
|
UTSW |
7 |
129,208,819 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7135:Wdr11
|
UTSW |
7 |
129,229,830 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7151:Wdr11
|
UTSW |
7 |
129,208,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Wdr11
|
UTSW |
7 |
129,208,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7503:Wdr11
|
UTSW |
7 |
129,204,834 (GRCm39) |
missense |
probably benign |
|
|
R8097:Wdr11
|
UTSW |
7 |
129,209,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Wdr11
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8354:Wdr11
|
UTSW |
7 |
129,204,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8377:Wdr11
|
UTSW |
7 |
129,208,412 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8416:Wdr11
|
UTSW |
7 |
129,232,403 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8708:Wdr11
|
UTSW |
7 |
129,200,780 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8896:Wdr11
|
UTSW |
7 |
129,207,437 (GRCm39) |
nonsense |
probably null |
|
|
R9092:Wdr11
|
UTSW |
7 |
129,226,451 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9136:Wdr11
|
UTSW |
7 |
129,204,816 (GRCm39) |
missense |
|
|
|
R9315:Wdr11
|
UTSW |
7 |
129,208,264 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9343:Wdr11
|
UTSW |
7 |
129,232,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9663:Wdr11
|
UTSW |
7 |
129,210,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9771:Wdr11
|
UTSW |
7 |
129,206,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wdr11
|
UTSW |
7 |
129,209,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation