Incidental Mutation 'R4855:Wdr11'
| ID |
374545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
042466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to G
at 129202158 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 |
noncoding transcript
Transcript: ENSMUST00000136734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
| Validation Efficiency |
98% (93/95) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adad1 |
G |
T |
3: 37,139,260 (GRCm39) |
L443F |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,268,378 (GRCm39) |
M70K |
probably damaging |
Het |
| Ankra2 |
T |
A |
13: 98,409,919 (GRCm39) |
L306H |
probably damaging |
Het |
| Arc |
A |
C |
15: 74,543,592 (GRCm39) |
D210E |
probably benign |
Het |
| Arhgap10 |
A |
G |
8: 78,159,367 (GRCm39) |
|
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,344,449 (GRCm39) |
N445K |
probably benign |
Het |
| C1qc |
G |
T |
4: 136,617,746 (GRCm39) |
Q117K |
probably benign |
Het |
| Cadps |
T |
A |
14: 12,822,449 (GRCm38) |
E97V |
unknown |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
A |
T |
13: 17,895,868 (GRCm39) |
W1014R |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,746,908 (GRCm39) |
E23K |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,498,642 (GRCm39) |
I96N |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,816,066 (GRCm39) |
L547Q |
possibly damaging |
Het |
| Ebf1 |
A |
T |
11: 44,863,735 (GRCm39) |
K354* |
probably null |
Het |
| Fat4 |
A |
G |
3: 38,942,466 (GRCm39) |
Q453R |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,054,497 (GRCm39) |
E142G |
possibly damaging |
Het |
| Gm14221 |
T |
C |
2: 160,416,600 (GRCm39) |
|
noncoding transcript |
Het |
| Gm42791 |
C |
A |
5: 148,896,247 (GRCm39) |
|
probably benign |
Het |
| Gm6370 |
G |
T |
5: 146,430,621 (GRCm39) |
V269L |
probably benign |
Het |
| Gphn |
G |
A |
12: 78,673,984 (GRCm39) |
V526M |
probably damaging |
Het |
| Gpt |
A |
T |
15: 76,583,485 (GRCm39) |
E206V |
probably damaging |
Het |
| Grm3 |
G |
A |
5: 9,620,047 (GRCm39) |
A399V |
probably damaging |
Het |
| Helq |
A |
T |
5: 100,931,025 (GRCm39) |
V575E |
possibly damaging |
Het |
| Herc4 |
A |
G |
10: 63,151,437 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
T |
1: 173,557,381 (GRCm39) |
N452K |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,184,848 (GRCm39) |
|
probably null |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,687 (GRCm39) |
F350L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,555 (GRCm39) |
V2185A |
probably benign |
Het |
| Lgi2 |
T |
C |
5: 52,695,849 (GRCm39) |
Q362R |
probably damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,773 (GRCm39) |
G367E |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,446,311 (GRCm39) |
H78Y |
probably benign |
Het |
| Matk |
A |
G |
10: 81,098,720 (GRCm39) |
|
probably benign |
Het |
| Med21 |
G |
A |
6: 146,549,690 (GRCm39) |
G24S |
probably damaging |
Het |
| Met |
G |
T |
6: 17,558,796 (GRCm39) |
L1141F |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,128,677 (GRCm39) |
|
probably null |
Het |
| Mrpl15 |
T |
C |
1: 4,844,683 (GRCm39) |
I203V |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,728 (GRCm39) |
|
probably null |
Het |
| Ndufa9 |
A |
C |
6: 126,804,505 (GRCm39) |
Y298* |
probably null |
Het |
| Neb |
T |
C |
2: 52,188,906 (GRCm39) |
E808G |
probably damaging |
Het |
| Nol4l |
C |
T |
2: 153,253,726 (GRCm39) |
G616S |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,788,468 (GRCm39) |
C408S |
probably benign |
Het |
| Or2ag18 |
T |
C |
7: 106,405,463 (GRCm39) |
M69V |
probably benign |
Het |
| Or4f14 |
A |
G |
2: 111,742,444 (GRCm39) |
V277A |
probably benign |
Het |
| Or4k42 |
T |
G |
2: 111,320,293 (GRCm39) |
D70A |
probably damaging |
Het |
| Or52e7 |
T |
A |
7: 104,684,858 (GRCm39) |
I151N |
probably damaging |
Het |
| Or5ak20 |
T |
C |
2: 85,183,793 (GRCm39) |
N159S |
possibly damaging |
Het |
| Paqr3 |
A |
G |
5: 97,256,053 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pex5l |
G |
A |
3: 33,196,989 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,285,713 (GRCm39) |
S363N |
probably benign |
Het |
| Pik3ap1 |
T |
C |
19: 41,316,284 (GRCm39) |
D326G |
probably benign |
Het |
| Plaa |
G |
T |
4: 94,474,645 (GRCm39) |
D252E |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,480,040 (GRCm39) |
V1404I |
probably benign |
Het |
| Ppargc1a |
G |
A |
5: 51,631,564 (GRCm39) |
A355V |
possibly damaging |
Het |
| Primpol |
A |
G |
8: 47,039,726 (GRCm39) |
S350P |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,883 (GRCm39) |
S453P |
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,742,564 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,768,079 (GRCm39) |
V571E |
probably damaging |
Het |
| Sbspon |
A |
T |
1: 15,929,264 (GRCm39) |
S176T |
possibly damaging |
Het |
| Scyl2 |
G |
A |
10: 89,476,325 (GRCm39) |
|
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,280,144 (GRCm39) |
V341E |
probably damaging |
Het |
| Serpinb3b |
A |
T |
1: 107,082,270 (GRCm39) |
F331L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,401,022 (GRCm39) |
H1736R |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,327 (GRCm39) |
D180E |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,208 (GRCm39) |
Y179N |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,722,560 (GRCm39) |
N638S |
probably benign |
Het |
| Slc6a4 |
T |
A |
11: 76,904,135 (GRCm39) |
W197R |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,970,649 (GRCm39) |
M1278L |
probably benign |
Het |
| Sptbn1 |
T |
A |
11: 30,092,353 (GRCm39) |
I471F |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,616,680 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
A |
G |
1: 153,768,382 (GRCm39) |
Q282R |
probably benign |
Het |
| Tex35 |
A |
G |
1: 156,927,295 (GRCm39) |
L160P |
probably damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,438 (GRCm39) |
Y118H |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,395,930 (GRCm39) |
Q533R |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,401,174 (GRCm39) |
D730N |
probably damaging |
Het |
| Ufc1 |
A |
G |
1: 171,122,375 (GRCm39) |
|
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,817,589 (GRCm39) |
W265R |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,341,408 (GRCm39) |
I1216M |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,747,187 (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 |
|
|
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 |
|
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'- CAGGGTAGTTTAGGTGTGAACC -3'
(R):5'- AGGCAGAGAACGTTTACTTTGTG -3'
Sequencing Primer
(F):5'- GGTAGTTTAGGTGTGAACCAAATAAC -3'
(R):5'- GAACGTTTACTTTGTGTATACAGCAC -3'
|
| Posted On |
2016-03-16 |
Incidental Mutation