Incidental Mutation 'IGL01923:Wdr11'
| ID |
180181 |
| 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 # |
IGL01923
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 129234046 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 |
probably benign
Transcript: ENSMUST00000136560
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
A |
5: 129,255,143 (GRCm39) |
S597T |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,071,409 (GRCm39) |
D138G |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,788,829 (GRCm39) |
*1141K |
probably null |
Het |
| Ctnnd2 |
A |
T |
15: 30,480,974 (GRCm39) |
Q74L |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,950,294 (GRCm39) |
W236R |
probably benign |
Het |
| Dixdc1 |
A |
T |
9: 50,606,803 (GRCm39) |
I271N |
possibly damaging |
Het |
| Dlec1 |
A |
G |
9: 118,957,182 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
A |
11: 66,016,061 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,404,920 (GRCm39) |
Y275F |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,811 (GRCm39) |
*2105R |
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,563,129 (GRCm39) |
D25E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,883,139 (GRCm39) |
I2557N |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm12253 |
G |
T |
11: 58,325,727 (GRCm39) |
|
probably null |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hsd17b7 |
A |
G |
1: 169,787,035 (GRCm39) |
V254A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,840,633 (GRCm39) |
D143V |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,186 (GRCm39) |
V1417A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,274,237 (GRCm39) |
A4926T |
possibly damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,222,916 (GRCm39) |
|
probably null |
Het |
| Or6c65 |
T |
A |
10: 129,603,973 (GRCm39) |
F203I |
probably benign |
Het |
| Pbx2 |
A |
G |
17: 34,813,024 (GRCm39) |
D160G |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,619,790 (GRCm39) |
F527L |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,489 (GRCm39) |
L123P |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,499,813 (GRCm39) |
K154N |
probably benign |
Het |
| Ppp2r1a |
T |
G |
17: 21,185,731 (GRCm39) |
*590G |
probably null |
Het |
| Raver1 |
A |
T |
9: 20,990,536 (GRCm39) |
L589Q |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,832,081 (GRCm39) |
S29P |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,784,634 (GRCm39) |
Y673H |
probably damaging |
Het |
| Serpina3j |
T |
A |
12: 104,281,473 (GRCm39) |
|
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,817,116 (GRCm39) |
E70G |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,287,492 (GRCm39) |
Q139R |
probably damaging |
Het |
| Sva |
T |
A |
6: 42,019,104 (GRCm39) |
H91Q |
probably benign |
Het |
| Tmem263 |
C |
T |
10: 84,950,295 (GRCm39) |
Q29* |
probably null |
Het |
| Tpp1 |
T |
C |
7: 105,400,857 (GRCm39) |
N57D |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
T |
A |
6: 124,177,484 (GRCm39) |
I507L |
probably benign |
Het |
| Zfp236 |
C |
T |
18: 82,700,344 (GRCm39) |
E42K |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation