Incidental Mutation 'R9315:Wdr11'
| ID |
705843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R9315 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129208264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 340
(T340A)
|
| 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: T340A
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: T340A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206442
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,265,576 (GRCm39) |
R153H |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,398,360 (GRCm39) |
S1730L |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,287 (GRCm39) |
E509G |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,213,670 (GRCm39) |
A30S |
probably benign |
Het |
| Clec4e |
A |
G |
6: 123,263,214 (GRCm39) |
S109P |
probably damaging |
Het |
| Coa7 |
T |
A |
4: 108,195,581 (GRCm39) |
L170Q |
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,540,544 (GRCm39) |
I1334N |
unknown |
Het |
| Col6a3 |
A |
G |
1: 90,738,979 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,420,035 (GRCm39) |
I232T |
probably benign |
Het |
| Ddx52 |
T |
A |
11: 83,837,033 (GRCm39) |
S175T |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,341 (GRCm39) |
S434F |
probably benign |
Het |
| Epn1 |
T |
C |
7: 5,096,339 (GRCm39) |
V211A |
probably benign |
Het |
| Fads2b |
C |
A |
2: 85,319,188 (GRCm39) |
K371N |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,285,548 (GRCm39) |
N429S |
probably benign |
Het |
| Ifng |
A |
T |
10: 118,278,588 (GRCm39) |
D83V |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,156,840 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Ldlr |
T |
A |
9: 21,644,782 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,760,911 (GRCm39) |
V4992A |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,248,969 (GRCm39) |
C168* |
probably null |
Het |
| Msantd5f3 |
A |
T |
4: 73,575,280 (GRCm39) |
R320* |
probably null |
Het |
| Mug1 |
T |
A |
6: 121,850,730 (GRCm39) |
V742D |
possibly damaging |
Het |
| Mxd1 |
T |
C |
6: 86,627,926 (GRCm39) |
D204G |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,811 (GRCm39) |
A1322D |
possibly damaging |
Het |
| Nepn |
T |
A |
10: 52,267,869 (GRCm39) |
I45N |
probably benign |
Het |
| Or13a22 |
T |
C |
7: 140,072,935 (GRCm39) |
I128T |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,495 (GRCm39) |
C167* |
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,270 (GRCm39) |
D172G |
probably benign |
Het |
| Paip1 |
A |
G |
13: 119,586,516 (GRCm39) |
E271G |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,119 (GRCm39) |
N444S |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,488,921 (GRCm39) |
T705A |
possibly damaging |
Het |
| Pik3r1 |
A |
G |
13: 101,894,166 (GRCm39) |
M1T |
probably null |
Het |
| Rab33b |
T |
G |
3: 51,401,000 (GRCm39) |
V158G |
probably damaging |
Het |
| Rab6a |
A |
G |
7: 100,281,017 (GRCm39) |
I120V |
probably benign |
Het |
| Radil |
G |
T |
5: 142,474,254 (GRCm39) |
H731N |
probably damaging |
Het |
| Rbm4b |
T |
C |
19: 4,812,028 (GRCm39) |
S146P |
probably damaging |
Het |
| Rrn3 |
T |
C |
16: 13,606,690 (GRCm39) |
Y99H |
probably benign |
Het |
| Saxo4 |
T |
A |
19: 10,458,767 (GRCm39) |
S88C |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,283,553 (GRCm39) |
T1504K |
possibly damaging |
Het |
| Tas1r2 |
A |
G |
4: 139,381,046 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,403,644 (GRCm39) |
I386V |
probably null |
Het |
| Tns1 |
A |
G |
1: 73,980,141 (GRCm39) |
C11R |
|
Het |
| Zbtb49 |
A |
G |
5: 38,358,082 (GRCm39) |
S724P |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,713,397 (GRCm39) |
K221R |
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 |
|
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 |
|
|
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 |
|
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGCATCGAGATTACACTTG -3'
(R):5'- GTTCCGTGCATTTCGACTGC -3'
Sequencing Primer
(F):5'- CATTCTCGCTACAGTGTGAAGGAC -3'
(R):5'- GCACACAGCAGACTTGAGTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation