Incidental Mutation 'R6766:Wdr11'
| ID |
531927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
044882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R6766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129226036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 727
(M727R)
|
| 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: M727R
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: M727R
| 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 |
probably benign
Transcript: ENSMUST00000148752
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
G |
A |
8: 25,362,646 (GRCm39) |
S17L |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Ankrd34c |
A |
G |
9: 89,611,381 (GRCm39) |
V320A |
probably benign |
Het |
| Aox1 |
C |
A |
1: 58,388,227 (GRCm39) |
L1112I |
possibly damaging |
Het |
| Arap2 |
A |
C |
5: 62,834,443 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
T |
9: 53,401,582 (GRCm39) |
I1429N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,099,861 (GRCm39) |
N290D |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,542 (GRCm39) |
W5R |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,827 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
C |
16: 3,935,364 (GRCm39) |
T842A |
probably damaging |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,236 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock1 |
T |
A |
7: 134,358,522 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,333,564 (GRCm39) |
I4800V |
probably damaging |
Het |
| Efcab7 |
CAAGTAAAGTAA |
CAAGTAA |
4: 99,735,161 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,348,990 (GRCm39) |
Q382* |
probably null |
Het |
| Fam83e |
A |
G |
7: 45,376,070 (GRCm39) |
D261G |
probably damaging |
Het |
| Ifnk |
T |
G |
4: 35,152,134 (GRCm39) |
S21A |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,903,204 (GRCm39) |
H1157R |
probably benign |
Het |
| Ighv1-67 |
T |
C |
12: 115,567,654 (GRCm39) |
K67R |
possibly damaging |
Het |
| Inpp4a |
C |
A |
1: 37,411,422 (GRCm39) |
A97D |
probably damaging |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Irgm1 |
T |
C |
11: 48,756,928 (GRCm39) |
I294M |
possibly damaging |
Het |
| Isoc2b |
C |
T |
7: 4,854,061 (GRCm39) |
V104M |
probably damaging |
Het |
| Kif2c |
A |
C |
4: 117,024,280 (GRCm39) |
S311R |
probably benign |
Het |
| Morn3 |
G |
A |
5: 123,179,270 (GRCm39) |
A60V |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,274,534 (GRCm39) |
N89D |
probably damaging |
Het |
| Or14c40 |
A |
T |
7: 86,313,293 (GRCm39) |
N141I |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,832,876 (GRCm39) |
V42A |
probably benign |
Het |
| Or5d44 |
T |
A |
2: 88,142,095 (GRCm39) |
Q15L |
noncoding transcript |
Het |
| Or8b48 |
A |
C |
9: 38,493,069 (GRCm39) |
R165S |
probably damaging |
Het |
| Pan2 |
C |
A |
10: 128,150,381 (GRCm39) |
N708K |
possibly damaging |
Het |
| Parp1 |
T |
A |
1: 180,425,927 (GRCm39) |
V886E |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,127,753 (GRCm39) |
A745E |
probably benign |
Het |
| Pcyox1 |
C |
T |
6: 86,371,390 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
A |
T |
13: 13,176,713 (GRCm39) |
|
probably null |
Het |
| Samd1 |
T |
C |
8: 84,726,361 (GRCm39) |
S473P |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,773 (GRCm39) |
D475E |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,535 (GRCm39) |
V239A |
possibly damaging |
Het |
| Smo |
T |
A |
6: 29,736,044 (GRCm39) |
L12Q |
unknown |
Homo |
| Srpk1 |
C |
T |
17: 28,821,727 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,216,362 (GRCm39) |
F191L |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,704,261 (GRCm39) |
V182A |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,174,139 (GRCm39) |
A889V |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,108,262 (GRCm39) |
T430A |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,484 (GRCm39) |
Y82F |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,841,220 (GRCm39) |
Y272* |
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vsig8 |
T |
A |
1: 172,388,143 (GRCm39) |
M37K |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,616,339 (GRCm39) |
D1218Y |
unknown |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Yod1 |
T |
A |
1: 130,647,008 (GRCm39) |
L295* |
probably null |
Het |
| Zfp113 |
G |
T |
5: 138,143,608 (GRCm39) |
S214* |
probably null |
Het |
| Zfp438 |
T |
A |
18: 5,213,780 (GRCm39) |
M393L |
probably benign |
Het |
| Zfp946 |
G |
A |
17: 22,674,752 (GRCm39) |
C502Y |
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 |
|
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'- CAGTGGCTCTTTCAGTGTTCAG -3'
(R):5'- TATGGTCAGGGTCTACTGGGAC -3'
Sequencing Primer
(F):5'- GATGGTATTCATGCTAAAGTACTCAC -3'
(R):5'- TCAGGGTCTACTGGGACTGACC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation