Incidental Mutation 'IGL02927:Wdr11'
| ID |
363946 |
| 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: 0.245)
|
| Stock # |
IGL02927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 129208822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084519
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
| 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 |
probably benign
Transcript: ENSMUST00000206442
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
G |
A |
17: 48,347,729 (GRCm39) |
Q192* |
probably null |
Het |
| Actl7b |
C |
A |
4: 56,740,609 (GRCm39) |
D250Y |
probably damaging |
Het |
| Akr1a1 |
T |
A |
4: 116,495,180 (GRCm39) |
N273I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,172,431 (GRCm39) |
I1737N |
possibly damaging |
Het |
| Cant1 |
T |
C |
11: 118,301,888 (GRCm39) |
D143G |
probably benign |
Het |
| Cast |
T |
A |
13: 74,885,113 (GRCm39) |
D295V |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,395,143 (GRCm39) |
N851D |
probably damaging |
Het |
| Cntn1 |
G |
A |
15: 92,189,561 (GRCm39) |
R628H |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,174,861 (GRCm39) |
D279G |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,507,577 (GRCm39) |
K291E |
probably benign |
Het |
| Dhx35 |
A |
T |
2: 158,662,336 (GRCm39) |
I205F |
probably damaging |
Het |
| Dpp8 |
G |
T |
9: 64,967,551 (GRCm39) |
R518L |
probably benign |
Het |
| Gm9 |
A |
G |
X: 36,474,207 (GRCm39) |
I34T |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,453,029 (GRCm39) |
C5429S |
probably damaging |
Het |
| Iqgap2 |
A |
C |
13: 95,861,184 (GRCm39) |
L314R |
possibly damaging |
Het |
| Itgav |
A |
C |
2: 83,625,884 (GRCm39) |
Y810S |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,353,061 (GRCm39) |
P283Q |
probably benign |
Het |
| Lrrn3 |
T |
A |
12: 41,503,343 (GRCm39) |
I325F |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,479,877 (GRCm39) |
|
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,067,262 (GRCm39) |
I594T |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,355,801 (GRCm39) |
I269F |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,231,757 (GRCm39) |
F591S |
probably damaging |
Het |
| Mknk1 |
C |
T |
4: 115,714,288 (GRCm39) |
R20C |
probably damaging |
Het |
| Mrgbp |
T |
C |
2: 180,226,272 (GRCm39) |
V115A |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,373 (GRCm39) |
Q15* |
probably null |
Het |
| Naa38 |
T |
C |
11: 69,286,743 (GRCm39) |
L9P |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or13a19 |
T |
A |
7: 139,902,654 (GRCm39) |
L14Q |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,114 (GRCm39) |
M252L |
probably benign |
Het |
| Or9i2 |
G |
A |
19: 13,816,288 (GRCm39) |
T83I |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,794,163 (GRCm39) |
N1950S |
probably damaging |
Het |
| Plagl2 |
A |
G |
2: 153,074,199 (GRCm39) |
L234P |
probably damaging |
Het |
| Psmb11 |
C |
T |
14: 54,863,108 (GRCm39) |
R109W |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rsbn1 |
A |
G |
3: 103,869,668 (GRCm39) |
T710A |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,658 (GRCm39) |
Y416C |
probably damaging |
Het |
| Slitrk4 |
A |
G |
X: 63,314,933 (GRCm39) |
I578T |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,367 (GRCm39) |
Y289C |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,692,685 (GRCm39) |
D579G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,549,942 (GRCm39) |
Y235H |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,127,514 (GRCm39) |
N385S |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,602 (GRCm39) |
S80P |
probably damaging |
Het |
| Ubc |
T |
C |
5: 125,463,201 (GRCm39) |
K709E |
probably benign |
Het |
| Vstm4 |
C |
T |
14: 32,659,745 (GRCm39) |
P296S |
probably damaging |
Het |
| Wdr19 |
T |
C |
5: 65,409,721 (GRCm39) |
I1153T |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 125,755,901 (GRCm39) |
E213G |
possibly damaging |
Het |
| Zxdc |
A |
C |
6: 90,349,544 (GRCm39) |
T311P |
probably damaging |
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 |
|
IGL01385:Wdr11
|
APN |
7 |
129,209,637 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation