Incidental Mutation 'R7151:Wdr11'
| ID |
554133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
045253-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R7151 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129208376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 377
(D377G)
|
| 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: D377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: D377G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330409D20Rik |
T |
A |
2: 32,630,618 (GRCm39) |
Q52L |
unknown |
Het |
| Acsl1 |
A |
G |
8: 46,966,634 (GRCm39) |
D202G |
probably damaging |
Het |
| Adam3 |
A |
T |
8: 25,185,271 (GRCm39) |
C476S |
probably damaging |
Het |
| Adam34 |
T |
A |
8: 44,104,499 (GRCm39) |
E382V |
probably benign |
Het |
| Akap5 |
G |
A |
12: 76,375,023 (GRCm39) |
V152I |
probably benign |
Het |
| Aldh5a1 |
C |
T |
13: 25,121,382 (GRCm39) |
W57* |
probably null |
Het |
| Angptl2 |
C |
T |
2: 33,133,922 (GRCm39) |
Q415* |
probably null |
Het |
| Bnc1 |
G |
T |
7: 81,623,055 (GRCm39) |
T724N |
possibly damaging |
Het |
| Brca2 |
T |
C |
5: 150,464,901 (GRCm39) |
V1555A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,643,483 (GRCm39) |
D322V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,357 (GRCm39) |
D498E |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,390,347 (GRCm39) |
T215A |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,580,476 (GRCm39) |
V492E |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,359,234 (GRCm39) |
R3523Q |
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,841,916 (GRCm39) |
D971V |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,323,816 (GRCm39) |
|
probably null |
Het |
| Erich5 |
T |
A |
15: 34,471,095 (GRCm39) |
L108Q |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,029,230 (GRCm39) |
Y1743F |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,694,503 (GRCm39) |
V243A |
probably damaging |
Het |
| Gspt1 |
T |
A |
16: 11,071,692 (GRCm39) |
Q57L |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,888,085 (GRCm39) |
Q129K |
probably benign |
Het |
| Heyl |
T |
C |
4: 123,140,254 (GRCm39) |
V271A |
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,261,437 (GRCm39) |
F7L |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,810,594 (GRCm39) |
T150A |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,274,699 (GRCm39) |
D790E |
probably damaging |
Het |
| Igkv4-69 |
T |
A |
6: 69,260,917 (GRCm39) |
Y70F |
probably damaging |
Het |
| Il1rap |
T |
C |
16: 26,530,878 (GRCm39) |
Y405H |
probably damaging |
Het |
| Insyn2a |
A |
C |
7: 134,520,374 (GRCm39) |
I52S |
probably damaging |
Het |
| Irf2bpl |
G |
T |
12: 86,930,127 (GRCm39) |
P182Q |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,605,829 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
T |
C |
10: 112,294,414 (GRCm39) |
V106A |
possibly damaging |
Het |
| Krt87 |
C |
A |
15: 101,387,529 (GRCm39) |
D170Y |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,280,693 (GRCm39) |
Y369F |
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,373,999 (GRCm39) |
D466E |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,851,302 (GRCm39) |
P428L |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,152,418 (GRCm39) |
Y167H |
unknown |
Het |
| Neu2 |
A |
G |
1: 87,524,297 (GRCm39) |
E94G |
probably benign |
Het |
| Nlrp9a |
A |
T |
7: 26,256,672 (GRCm39) |
K97* |
probably null |
Het |
| Npdc1 |
A |
G |
2: 25,299,120 (GRCm39) |
M306V |
probably damaging |
Het |
| Odf2l |
A |
T |
3: 144,832,827 (GRCm39) |
N95I |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,633 (GRCm39) |
K237E |
probably damaging |
Het |
| Or13d1 |
G |
T |
4: 52,970,665 (GRCm39) |
V15L |
probably benign |
Het |
| Or5t16 |
A |
G |
2: 86,819,385 (GRCm39) |
V45A |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,037 (GRCm39) |
Y259C |
possibly damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,127 (GRCm39) |
F183L |
probably benign |
Het |
| Proser3 |
A |
G |
7: 30,239,749 (GRCm39) |
F452L |
possibly damaging |
Het |
| Ptgfrn |
G |
T |
3: 100,987,511 (GRCm39) |
Y117* |
probably null |
Het |
| Rab3gap2 |
G |
T |
1: 184,980,250 (GRCm39) |
V360F |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,266,475 (GRCm39) |
D687V |
possibly damaging |
Het |
| Rxfp2 |
T |
G |
5: 149,966,572 (GRCm39) |
N103K |
probably benign |
Het |
| Scfd2 |
T |
A |
5: 74,558,326 (GRCm39) |
Q517L |
possibly damaging |
Het |
| Scnn1b |
G |
A |
7: 121,517,109 (GRCm39) |
A582T |
probably damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,818 (GRCm39) |
E170G |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,533,527 (GRCm39) |
V194E |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,006,833 (GRCm39) |
H191L |
possibly damaging |
Het |
| Sirt1 |
A |
T |
10: 63,159,775 (GRCm39) |
L435Q |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,301,420 (GRCm39) |
P315S |
probably damaging |
Het |
| Spdef |
T |
A |
17: 27,939,134 (GRCm39) |
S71C |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,025,317 (GRCm39) |
H727Q |
probably damaging |
Het |
| Srsf1 |
C |
T |
11: 87,940,084 (GRCm39) |
Q199* |
probably null |
Het |
| Stard9 |
A |
T |
2: 120,526,623 (GRCm39) |
D960V |
probably benign |
Het |
| Tcp10c |
A |
T |
17: 13,576,166 (GRCm39) |
I49F |
possibly damaging |
Het |
| Tgm2 |
T |
C |
2: 157,971,315 (GRCm39) |
N308S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,498,660 (GRCm39) |
D812G |
probably benign |
Het |
| Tph1 |
A |
T |
7: 46,311,541 (GRCm39) |
V67D |
possibly damaging |
Het |
| Trps1 |
C |
T |
15: 50,685,793 (GRCm39) |
R794H |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,683,505 (GRCm39) |
A906T |
|
Het |
| Vmn1r124 |
G |
A |
7: 20,994,184 (GRCm39) |
P120L |
probably benign |
Het |
| Vmn2r92 |
A |
T |
17: 18,387,005 (GRCm39) |
T115S |
probably benign |
Het |
| Wdr55 |
G |
T |
18: 36,895,989 (GRCm39) |
A251S |
possibly damaging |
Het |
| Zbtb7b |
C |
T |
3: 89,288,209 (GRCm39) |
R203H |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,929,231 (GRCm39) |
H67Q |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,051,271 (GRCm39) |
C2248Y |
probably damaging |
Het |
| Zyg11b |
T |
C |
4: 108,102,119 (GRCm39) |
H534R |
possibly 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 |
|
|
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 |
|
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'- TGAAACAGCTGGTAGTTCTTGC -3'
(R):5'- CCACAGTGAAGCAACTGTCAG -3'
Sequencing Primer
(F):5'- GCTGTGTTTCCTTTCTGGCATCTG -3'
(R):5'- GTGAAGCAACTGTCAGAACATAATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation