Incidental Mutation 'R4807:Wdr11'
| ID |
370756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
042426-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129229746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 844
(Y844H)
|
| 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: Y844H
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: Y844H
| 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 |
noncoding transcript
Transcript: ENSMUST00000143422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| Meta Mutation Damage Score |
0.0902 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (86/88) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,139,832 (GRCm39) |
A1499V |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,682,114 (GRCm39) |
D386E |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,791,624 (GRCm39) |
T955K |
possibly damaging |
Het |
| Ankrd9 |
A |
G |
12: 110,943,669 (GRCm39) |
Y122H |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,196 (GRCm39) |
R1721L |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,522,385 (GRCm39) |
V547A |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,046,629 (GRCm39) |
N203D |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,405,657 (GRCm39) |
F1515I |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,945,267 (GRCm39) |
T1363A |
probably benign |
Het |
| Cacng3 |
C |
T |
7: 122,353,732 (GRCm39) |
A72V |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,505 (GRCm39) |
C1193R |
possibly damaging |
Het |
| Ccr3 |
A |
G |
9: 123,829,334 (GRCm39) |
Y223C |
probably damaging |
Het |
| Clcn3 |
C |
A |
8: 61,387,564 (GRCm39) |
L201F |
probably damaging |
Het |
| Cltc |
A |
C |
11: 86,591,902 (GRCm39) |
|
probably benign |
Het |
| Cyp19a1 |
G |
T |
9: 54,083,930 (GRCm39) |
T86K |
possibly damaging |
Het |
| Ddx24 |
A |
T |
12: 103,385,720 (GRCm39) |
F248L |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,432,372 (GRCm39) |
V885I |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,139,422 (GRCm39) |
I1404M |
probably benign |
Het |
| Emilin2 |
A |
T |
17: 71,580,443 (GRCm39) |
V761E |
probably damaging |
Het |
| Endou |
C |
T |
15: 97,629,113 (GRCm39) |
C13Y |
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Fbxo33 |
C |
A |
12: 59,265,998 (GRCm39) |
D90Y |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,198,705 (GRCm39) |
F2641L |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,006 (GRCm39) |
I34V |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,661,051 (GRCm39) |
H38R |
probably damaging |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr63 |
A |
C |
4: 25,007,446 (GRCm39) |
M57L |
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,755,324 (GRCm39) |
S3G |
probably damaging |
Het |
| Grk4 |
A |
T |
5: 34,909,552 (GRCm39) |
M539L |
probably benign |
Het |
| Gulo |
C |
T |
14: 66,227,833 (GRCm39) |
M366I |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,924,303 (GRCm39) |
H1970R |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,062,998 (GRCm39) |
|
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,267,965 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
T |
2: 129,212,226 (GRCm39) |
C9S |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,162,440 (GRCm39) |
|
probably benign |
Het |
| Kcnn1 |
T |
A |
8: 71,300,822 (GRCm39) |
H473L |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,284 (GRCm39) |
S1579L |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,332,378 (GRCm39) |
|
probably benign |
Het |
| Lyg2 |
A |
T |
1: 37,950,148 (GRCm39) |
M60K |
possibly damaging |
Het |
| Mak16 |
G |
T |
8: 31,656,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,022,855 (GRCm39) |
S623P |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,039,195 (GRCm39) |
Y46C |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,685,651 (GRCm39) |
|
probably null |
Het |
| Med25 |
T |
A |
7: 44,534,043 (GRCm39) |
T31S |
probably benign |
Het |
| Mprip |
G |
A |
11: 59,648,846 (GRCm39) |
G850D |
probably benign |
Het |
| Mrpl10 |
T |
C |
11: 96,932,449 (GRCm39) |
I8T |
probably benign |
Het |
| Msr1 |
T |
C |
8: 40,095,668 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,936,056 (GRCm39) |
I99N |
probably damaging |
Het |
| Neurod6 |
A |
T |
6: 55,655,640 (GRCm39) |
N332K |
probably damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,168,723 (GRCm39) |
Y886C |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,398,542 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,095 (GRCm39) |
I305L |
probably benign |
Het |
| Plppr2 |
A |
G |
9: 21,855,810 (GRCm39) |
N261S |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,617,584 (GRCm39) |
|
probably benign |
Het |
| Pxk |
G |
A |
14: 8,144,133 (GRCm38) |
V294M |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,973 (GRCm39) |
F608L |
possibly damaging |
Het |
| Rasa3 |
A |
G |
8: 13,664,633 (GRCm39) |
F60L |
probably damaging |
Het |
| Rbm47 |
C |
T |
5: 66,176,647 (GRCm39) |
A490T |
possibly damaging |
Het |
| Sardh |
T |
C |
2: 27,079,539 (GRCm39) |
I918V |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,004 (GRCm39) |
K193R |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,971,505 (GRCm39) |
M653K |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,407,803 (GRCm39) |
D56G |
possibly damaging |
Het |
| Slco1b2 |
T |
C |
6: 141,615,195 (GRCm39) |
S367P |
probably damaging |
Het |
| Spry4 |
TTGAGGTCC |
T |
18: 38,723,328 (GRCm39) |
|
probably null |
Het |
| Strip2 |
T |
A |
6: 29,925,092 (GRCm39) |
Y143* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tex30 |
C |
A |
1: 44,126,118 (GRCm39) |
V204L |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Tmeff2 |
A |
C |
1: 51,018,546 (GRCm39) |
N176T |
probably benign |
Het |
| Togaram2 |
C |
G |
17: 72,004,918 (GRCm39) |
T324R |
probably damaging |
Het |
| Trpc3 |
C |
T |
3: 36,688,531 (GRCm39) |
R836Q |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,673,149 (GRCm39) |
L535V |
probably benign |
Het |
| Vmn1r213 |
G |
A |
13: 23,195,775 (GRCm39) |
W119* |
probably null |
Het |
| Vps29 |
T |
G |
5: 122,500,951 (GRCm39) |
V176G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,173 (GRCm39) |
T144A |
possibly damaging |
Het |
| Zbp1 |
A |
T |
2: 173,053,999 (GRCm39) |
M174K |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
G |
A |
6: 83,920,040 (GRCm39) |
R546H |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,042,853 (GRCm39) |
M1K |
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 |
|
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 |
|
|
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'- TCAAACTGAGTGCAGAGTCTC -3'
(R):5'- AACAATATCCTTTGAGTGCCTTTGC -3'
Sequencing Primer
(F):5'- CAGAGTCTCTGCTATGGATAGACTC -3'
(R):5'- AGGTCTGAACTGTAATCCATAGCTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation