Incidental Mutation 'R9136:Wdr11'
| ID |
694024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
068931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R9136 (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 129204816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 207
(H207R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: H207R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,596,807 (GRCm39) |
Q420R |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Acsl5 |
A |
T |
19: 55,266,400 (GRCm39) |
K109N |
probably benign |
Het |
| Agpat3 |
T |
C |
10: 78,120,893 (GRCm39) |
N95S |
probably damaging |
Het |
| Akna |
C |
T |
4: 63,310,392 (GRCm39) |
D451N |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,392,278 (GRCm39) |
D1797E |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,959,962 (GRCm39) |
N691S |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,817,193 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
G |
A |
5: 122,259,146 (GRCm39) |
R251W |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,152 (GRCm39) |
T171A |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,403,352 (GRCm39) |
S382T |
probably benign |
Het |
| Cox5b-ps |
A |
C |
13: 21,685,587 (GRCm39) |
M1R |
probably null |
Het |
| Ddx19b |
G |
T |
8: 111,734,906 (GRCm39) |
D487E |
probably benign |
Het |
| Dlgap4 |
G |
A |
2: 156,588,075 (GRCm39) |
E640K |
possibly damaging |
Het |
| Dtnbp1 |
A |
T |
13: 45,084,546 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Epha10 |
T |
C |
4: 124,796,427 (GRCm39) |
Y379H |
|
Het |
| Eral1 |
A |
G |
11: 77,964,960 (GRCm39) |
I411T |
|
Het |
| Exd1 |
C |
T |
2: 119,359,385 (GRCm39) |
G193E |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,833,738 (GRCm39) |
A105S |
|
Het |
| Fbp2 |
C |
T |
13: 63,002,840 (GRCm39) |
V71M |
possibly damaging |
Het |
| Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Grm5 |
G |
A |
7: 87,689,254 (GRCm39) |
V542I |
possibly damaging |
Het |
| Hdc |
C |
T |
2: 126,439,786 (GRCm39) |
|
probably null |
Het |
| Hspe1 |
G |
T |
1: 55,128,314 (GRCm39) |
K36N |
probably damaging |
Het |
| Hypk |
T |
A |
2: 121,287,636 (GRCm39) |
L17* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Immt |
C |
T |
6: 71,851,403 (GRCm39) |
T588I |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,936,364 (GRCm39) |
S179T |
probably benign |
Het |
| Krtap19-5 |
C |
T |
16: 88,693,246 (GRCm39) |
G22D |
unknown |
Het |
| Lipk |
A |
G |
19: 33,999,830 (GRCm39) |
D153G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,750,090 (GRCm39) |
V1000A |
probably benign |
Het |
| Map3k7cl |
T |
C |
16: 87,391,227 (GRCm39) |
L117P |
probably damaging |
Het |
| Meikin |
A |
G |
11: 54,285,464 (GRCm39) |
E167G |
possibly damaging |
Het |
| Miox |
A |
G |
15: 89,220,740 (GRCm39) |
Y215C |
probably damaging |
Het |
| Mthfd1 |
T |
G |
12: 76,350,649 (GRCm39) |
M677R |
probably damaging |
Het |
| Ncoa7 |
G |
A |
10: 30,567,628 (GRCm39) |
S350L |
probably benign |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 38,119,262 (GRCm39) |
N403K |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,020,830 (GRCm39) |
T955A |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,851,698 (GRCm39) |
T82K |
|
Het |
| Or10ag56 |
A |
G |
2: 87,139,219 (GRCm39) |
I49V |
possibly damaging |
Het |
| Or1m1 |
T |
C |
9: 18,666,175 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or4c108 |
T |
A |
2: 88,804,113 (GRCm39) |
M41L |
probably benign |
Het |
| Or8w1 |
A |
G |
2: 87,465,341 (GRCm39) |
V250A |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,059,815 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
C |
T |
8: 41,732,825 (GRCm39) |
S694L |
probably benign |
Het |
| Pex11b |
T |
C |
3: 96,551,259 (GRCm39) |
L248P |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,826,285 (GRCm39) |
I236N |
|
Het |
| Ppp3cb |
T |
C |
14: 20,581,867 (GRCm39) |
I49M |
probably benign |
Het |
| Prorp |
C |
T |
12: 55,350,727 (GRCm39) |
P12L |
probably benign |
Het |
| Prr14l |
A |
C |
5: 32,986,080 (GRCm39) |
C1138W |
|
Het |
| Prss1 |
T |
G |
6: 41,438,280 (GRCm39) |
|
probably benign |
Het |
| Psg22 |
T |
A |
7: 18,460,811 (GRCm39) |
I480K |
probably damaging |
Het |
| Rgs21 |
A |
C |
1: 144,412,653 (GRCm39) |
F57C |
|
Het |
| Rngtt |
T |
A |
4: 33,404,218 (GRCm39) |
D468E |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,934,686 (GRCm39) |
V313E |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,203 (GRCm39) |
F1736S |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,148,981 (GRCm39) |
I577V |
|
Het |
| Sos2 |
C |
A |
12: 69,633,446 (GRCm39) |
E1143D |
possibly damaging |
Het |
| Spen |
T |
C |
4: 141,249,623 (GRCm39) |
D55G |
unknown |
Het |
| Stoml1 |
C |
A |
9: 58,168,236 (GRCm39) |
Q316K |
possibly damaging |
Het |
| Synpo2l |
C |
T |
14: 20,715,857 (GRCm39) |
A243T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,473,125 (GRCm39) |
I974F |
possibly damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,067,092 (GRCm39) |
I545F |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,104,994 (GRCm39) |
D756G |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,973 (GRCm39) |
N393D |
possibly damaging |
Het |
| Vcl |
T |
A |
14: 21,057,344 (GRCm39) |
D505E |
probably benign |
Het |
| Vwf |
A |
T |
6: 125,576,356 (GRCm39) |
|
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,653,312 (GRCm39) |
D72G |
probably damaging |
Het |
| Zfp507 |
A |
T |
7: 35,475,883 (GRCm39) |
D813E |
probably damaging |
Het |
| Zfp704 |
T |
C |
3: 9,509,324 (GRCm39) |
S374G |
probably benign |
Het |
| Zfp97 |
G |
A |
17: 17,365,215 (GRCm39) |
C238Y |
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 |
|
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'- ACCTTCCTTTCATGGGTTAGAG -3'
(R):5'- GAGGAAGTTCAACACCTGTGG -3'
Sequencing Primer
(F):5'- CCTTTCATGGGTTAGAGTGGAGC -3'
(R):5'- GTTCAACACCTGTGGAATGAAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation