Incidental Mutation 'R2122:Wdr11'
| ID |
229582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
040126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R2122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129233490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1028
(C1028Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084519
AA Change: C1028Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: C1028Y
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
T |
7: 120,119,184 (GRCm39) |
G975V |
probably damaging |
Het |
| Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
| Actl10 |
G |
A |
2: 154,394,153 (GRCm39) |
R35H |
probably damaging |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Ahctf1 |
C |
A |
1: 179,597,017 (GRCm39) |
R43L |
probably damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Arhgef7 |
A |
T |
8: 11,778,256 (GRCm39) |
N2I |
possibly damaging |
Het |
| Blvra |
T |
G |
2: 126,928,817 (GRCm39) |
S102A |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,645,691 (GRCm39) |
L226P |
probably damaging |
Het |
| C2cd4d |
G |
T |
3: 94,270,925 (GRCm39) |
E64* |
probably null |
Het |
| Ccna2 |
A |
G |
3: 36,622,875 (GRCm39) |
V209A |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,387,354 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cdh2 |
G |
A |
18: 16,907,600 (GRCm39) |
P46L |
probably benign |
Het |
| Cldn11 |
A |
G |
3: 31,217,300 (GRCm39) |
Y156C |
probably damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,655 (GRCm39) |
R12G |
possibly damaging |
Het |
| Cog2 |
T |
C |
8: 125,255,724 (GRCm39) |
S104P |
possibly damaging |
Het |
| Col4a3 |
T |
G |
1: 82,632,678 (GRCm39) |
F184V |
unknown |
Het |
| Col4a4 |
T |
A |
1: 82,434,592 (GRCm39) |
D1406V |
unknown |
Het |
| Col6a1 |
T |
C |
10: 76,557,332 (GRCm39) |
T207A |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Dcdc2a |
T |
G |
13: 25,303,268 (GRCm39) |
S266R |
possibly damaging |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,286,274 (GRCm39) |
V1063E |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,761,188 (GRCm39) |
Y44* |
probably null |
Het |
| Ep400 |
A |
T |
5: 110,856,716 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
A |
G |
6: 84,598,464 (GRCm39) |
M779T |
probably benign |
Het |
| F13a1 |
T |
A |
13: 37,209,653 (GRCm39) |
Y104F |
probably benign |
Het |
| Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Fscn3 |
A |
G |
6: 28,430,388 (GRCm39) |
D186G |
probably benign |
Het |
| Gm5773 |
G |
A |
3: 93,680,624 (GRCm39) |
G99R |
possibly damaging |
Het |
| Grk1 |
A |
T |
8: 13,455,221 (GRCm39) |
Y35F |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,418,145 (GRCm39) |
V359A |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,044,121 (GRCm39) |
S567P |
probably damaging |
Het |
| Il1rap |
A |
T |
16: 26,529,315 (GRCm39) |
H379L |
probably damaging |
Het |
| Kctd5 |
T |
C |
17: 24,274,940 (GRCm39) |
T212A |
probably benign |
Het |
| Krtap5-5 |
A |
T |
7: 141,783,240 (GRCm39) |
C137S |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,314,051 (GRCm39) |
T2227A |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
| Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,129,927 (GRCm39) |
Y248N |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,158,835 (GRCm39) |
A405V |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,647 (GRCm39) |
K417E |
possibly damaging |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,868 (GRCm39) |
E1027G |
probably damaging |
Het |
| Nudt6 |
A |
C |
3: 37,466,554 (GRCm39) |
F80L |
probably benign |
Het |
| Nxph1 |
A |
G |
6: 9,247,791 (GRCm39) |
K254R |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,527 (GRCm39) |
R1043H |
probably benign |
Het |
| Or10a4 |
A |
T |
7: 106,697,316 (GRCm39) |
I215F |
probably damaging |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Phldb2 |
T |
A |
16: 45,583,304 (GRCm39) |
I1065F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,721,874 (GRCm39) |
N317K |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
| Reg3a |
T |
C |
6: 78,358,119 (GRCm39) |
C17R |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,897,701 (GRCm39) |
S800G |
probably damaging |
Het |
| Rnf168 |
T |
G |
16: 32,097,036 (GRCm39) |
L37R |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,833,654 (GRCm39) |
D554G |
probably damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,449,765 (GRCm39) |
Q3937L |
probably damaging |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Slc20a1 |
T |
G |
2: 129,041,739 (GRCm39) |
I34S |
possibly damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,007,658 (GRCm39) |
S116P |
possibly damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,919,115 (GRCm39) |
D29V |
possibly damaging |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Susd3 |
A |
G |
13: 49,384,626 (GRCm39) |
Y254H |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,786,775 (GRCm39) |
L858P |
probably damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
| Tfpt |
C |
T |
7: 3,631,930 (GRCm39) |
R60Q |
probably damaging |
Het |
| Tmem44 |
T |
A |
16: 30,366,262 (GRCm39) |
K55* |
probably null |
Het |
| Tnfsf9 |
A |
T |
17: 57,414,316 (GRCm39) |
|
probably null |
Het |
| Ube3c |
T |
C |
5: 29,824,604 (GRCm39) |
I543T |
probably benign |
Het |
| Ugt1a2 |
C |
A |
1: 88,128,735 (GRCm39) |
S126Y |
possibly damaging |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,566 (GRCm39) |
L243Q |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,434,322 (GRCm39) |
V794G |
probably damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,353 (GRCm39) |
D560G |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,297 (GRCm39) |
D2100G |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,655,991 (GRCm39) |
Y789* |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGTGAGTGCTGCCTGTG -3'
(R):5'- AAGCTCCGCTAACATGACTG -3'
Sequencing Primer
(F):5'- TGGGCTGGAGACTGACATCAC -3'
(R):5'- CAAGCAGCGCTAGTTTCCTGTAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation