Incidental Mutation 'IGL03008:Wdr11'
ID |
407683 |
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 # |
IGL03008
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 129208715 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,612,337 (GRCm39) |
M1I |
probably null |
Het |
Ankrd44 |
T |
C |
1: 54,805,968 (GRCm39) |
H146R |
probably damaging |
Het |
Bst1 |
A |
G |
5: 43,983,604 (GRCm39) |
|
probably null |
Het |
Btbd8 |
T |
G |
5: 107,639,464 (GRCm39) |
|
probably null |
Het |
Cdh12 |
A |
T |
15: 21,480,416 (GRCm39) |
I211F |
probably damaging |
Het |
Cenpj |
G |
T |
14: 56,764,406 (GRCm39) |
D1335E |
probably benign |
Het |
Clpx |
G |
A |
9: 65,230,057 (GRCm39) |
V502I |
possibly damaging |
Het |
Cntnap4 |
T |
C |
8: 113,500,222 (GRCm39) |
S505P |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,262,131 (GRCm39) |
|
probably benign |
Het |
Cped1 |
A |
G |
6: 22,233,601 (GRCm39) |
Q819R |
probably benign |
Het |
Cspg4 |
A |
G |
9: 56,805,759 (GRCm39) |
E2190G |
possibly damaging |
Het |
Ctsa |
G |
A |
2: 164,679,368 (GRCm39) |
R359Q |
probably damaging |
Het |
Cul9 |
A |
G |
17: 46,813,623 (GRCm39) |
|
probably benign |
Het |
Dab1 |
G |
T |
4: 104,584,777 (GRCm39) |
V306F |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,050,876 (GRCm39) |
I438V |
probably benign |
Het |
Eif4g3 |
G |
T |
4: 137,847,699 (GRCm39) |
G380W |
probably damaging |
Het |
Exd1 |
T |
A |
2: 119,350,862 (GRCm39) |
K466N |
probably benign |
Het |
Eya3 |
A |
C |
4: 132,434,294 (GRCm39) |
D325A |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,445 (GRCm39) |
T382A |
unknown |
Het |
Fry |
T |
A |
5: 150,269,021 (GRCm39) |
D106E |
possibly damaging |
Het |
Gm21957 |
T |
A |
7: 124,818,733 (GRCm39) |
|
noncoding transcript |
Het |
Gm44511 |
A |
G |
6: 128,761,059 (GRCm39) |
|
probably benign |
Het |
Itga4 |
A |
G |
2: 79,155,982 (GRCm39) |
I983V |
probably benign |
Het |
Lrpprc |
A |
T |
17: 85,058,675 (GRCm39) |
D5E |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,511,293 (GRCm39) |
E225G |
unknown |
Het |
Ltbp4 |
G |
T |
7: 27,023,789 (GRCm39) |
N747K |
probably damaging |
Het |
Minar1 |
A |
G |
9: 89,478,731 (GRCm39) |
Y772H |
probably damaging |
Het |
Mlh3 |
T |
C |
12: 85,287,625 (GRCm39) |
Q1308R |
probably benign |
Het |
Mtfr2 |
T |
A |
10: 20,229,185 (GRCm39) |
C63S |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,022,617 (GRCm39) |
M1661L |
probably benign |
Het |
Myo1c |
T |
C |
11: 75,549,240 (GRCm39) |
M137T |
probably benign |
Het |
Myocd |
A |
C |
11: 65,078,392 (GRCm39) |
L340V |
probably damaging |
Het |
Napsa |
A |
T |
7: 44,235,220 (GRCm39) |
Q335L |
possibly damaging |
Het |
Nlrp4b |
C |
A |
7: 10,448,516 (GRCm39) |
Q240K |
probably benign |
Het |
Npepps |
A |
C |
11: 97,128,984 (GRCm39) |
F400C |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,304,738 (GRCm39) |
E275V |
probably benign |
Het |
Ofd1 |
T |
C |
X: 165,192,530 (GRCm39) |
D501G |
probably benign |
Het |
Or13a19 |
T |
C |
7: 139,903,445 (GRCm39) |
Y278H |
probably damaging |
Het |
Or4f6 |
A |
G |
2: 111,838,868 (GRCm39) |
I221T |
possibly damaging |
Het |
Or5p79 |
T |
G |
7: 108,221,490 (GRCm39) |
L157R |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,678 (GRCm39) |
M136K |
probably damaging |
Het |
P2ry1 |
A |
T |
3: 60,910,947 (GRCm39) |
T29S |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,290,860 (GRCm39) |
V201A |
possibly damaging |
Het |
Paxip1 |
A |
G |
5: 27,957,764 (GRCm39) |
V864A |
probably benign |
Het |
Pcdhgc5 |
T |
A |
18: 37,954,887 (GRCm39) |
H720Q |
probably benign |
Het |
Pdxdc1 |
T |
C |
16: 13,694,023 (GRCm39) |
N133S |
possibly damaging |
Het |
Prkar1a |
T |
C |
11: 109,544,690 (GRCm39) |
I27T |
probably damaging |
Het |
Rnf10 |
G |
T |
5: 115,389,355 (GRCm39) |
H271N |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,392,855 (GRCm39) |
S246P |
probably damaging |
Het |
Sertad2 |
G |
T |
11: 20,597,798 (GRCm39) |
|
probably benign |
Het |
Slc22a27 |
A |
G |
19: 7,887,067 (GRCm39) |
I274T |
possibly damaging |
Het |
Slc22a5 |
A |
T |
11: 53,782,058 (GRCm39) |
V103E |
probably damaging |
Het |
Slc5a9 |
A |
T |
4: 111,748,138 (GRCm39) |
F225I |
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,706,404 (GRCm39) |
|
probably null |
Het |
Smcr8 |
A |
G |
11: 60,669,287 (GRCm39) |
E145G |
probably damaging |
Het |
Spen |
A |
T |
4: 141,203,448 (GRCm39) |
D1726E |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Stag1 |
A |
T |
9: 100,658,844 (GRCm39) |
N144Y |
probably damaging |
Het |
Strada |
T |
C |
11: 106,061,783 (GRCm39) |
H156R |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tas2r138 |
A |
C |
6: 40,590,116 (GRCm39) |
D43E |
probably damaging |
Het |
Tdpoz3 |
A |
T |
3: 93,733,642 (GRCm39) |
K106* |
probably null |
Het |
Trbv13-1 |
A |
G |
6: 41,093,229 (GRCm39) |
D54G |
probably damaging |
Het |
Ttc39b |
A |
G |
4: 83,165,932 (GRCm39) |
V218A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,611,203 (GRCm39) |
T15697I |
probably damaging |
Het |
Ugt2b38 |
G |
A |
5: 87,560,282 (GRCm39) |
T344I |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,477,908 (GRCm39) |
M168V |
probably benign |
Het |
Wipf2 |
T |
C |
11: 98,783,554 (GRCm39) |
|
probably benign |
Het |
Zranb2 |
T |
A |
3: 157,252,302 (GRCm39) |
|
probably null |
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 |
|
IGL02927:Wdr11
|
APN |
7 |
129,208,822 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2016-08-02 |