Incidental Mutation 'R8377:Wdr11'
| ID |
646747 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
067745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8377 (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 A
at 129208412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 389
(V389E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084519
AA Change: V389E
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: V389E
| 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: 99.7%
- 20x: 99.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
C |
A |
12: 84,105,561 (GRCm39) |
C251* |
probably null |
Het |
| Acsbg1 |
A |
G |
9: 54,529,789 (GRCm39) |
C273R |
probably damaging |
Het |
| Adh6a |
A |
G |
3: 138,031,884 (GRCm39) |
T259A |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,689,255 (GRCm39) |
H639R |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,399,937 (GRCm39) |
R342G |
probably damaging |
Het |
| Arid5b |
G |
T |
10: 67,933,217 (GRCm39) |
A895E |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| Bmp8a |
G |
T |
4: 123,236,482 (GRCm39) |
P7Q |
unknown |
Het |
| Boll |
A |
C |
1: 55,362,837 (GRCm39) |
V187G |
possibly damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,457,306 (GRCm39) |
C1544S |
probably benign |
Het |
| Cmss1 |
A |
C |
16: 57,127,757 (GRCm39) |
M182R |
possibly damaging |
Het |
| Cntn3 |
T |
C |
6: 102,186,254 (GRCm39) |
M578V |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,286,032 (GRCm39) |
W2718R |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,466,831 (GRCm39) |
I567N |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,412,527 (GRCm39) |
D168E |
probably damaging |
Het |
| Ern2 |
G |
A |
7: 121,780,515 (GRCm39) |
Q162* |
probably null |
Het |
| F11r |
G |
T |
1: 171,265,111 (GRCm39) |
|
probably benign |
Het |
| Fcgrt |
T |
C |
7: 44,751,987 (GRCm39) |
Y59C |
probably damaging |
Het |
| Fmn2 |
G |
T |
1: 174,436,011 (GRCm39) |
E661* |
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,266,328 (GRCm39) |
Q571L |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,126,593 (GRCm39) |
H95L |
probably damaging |
Het |
| Gphn |
G |
A |
12: 78,711,280 (GRCm39) |
V621M |
probably damaging |
Het |
| Grwd1 |
T |
C |
7: 45,480,036 (GRCm39) |
Y57C |
probably damaging |
Het |
| Insyn2b |
C |
A |
11: 34,351,964 (GRCm39) |
A2D |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,054,848 (GRCm39) |
Q1195* |
probably null |
Het |
| Itpr1 |
G |
C |
6: 108,487,699 (GRCm39) |
C2375S |
probably benign |
Het |
| Kcnmb4 |
A |
T |
10: 116,282,290 (GRCm39) |
Y136N |
probably benign |
Het |
| Matn2 |
C |
T |
15: 34,345,511 (GRCm39) |
P173S |
probably damaging |
Het |
| Med17 |
A |
C |
9: 15,173,655 (GRCm39) |
D606E |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,301,254 (GRCm39) |
V537A |
|
Het |
| Mrpl1 |
C |
G |
5: 96,374,226 (GRCm39) |
A167G |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,342,487 (GRCm39) |
F206S |
unknown |
Het |
| Msh6 |
T |
A |
17: 88,292,598 (GRCm39) |
M451K |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,804,481 (GRCm39) |
I1592T |
possibly damaging |
Het |
| Naip1 |
A |
T |
13: 100,562,374 (GRCm39) |
D930E |
possibly damaging |
Het |
| Necap2 |
T |
C |
4: 140,795,534 (GRCm39) |
I242V |
probably benign |
Het |
| Nfya |
A |
G |
17: 48,699,073 (GRCm39) |
V240A |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,496,353 (GRCm39) |
D328G |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,639,203 (GRCm39) |
M193K |
probably benign |
Het |
| Or4k35 |
T |
A |
2: 111,099,983 (GRCm39) |
H243L |
probably damaging |
Het |
| Or5b24 |
T |
G |
19: 12,912,399 (GRCm39) |
V99G |
probably benign |
Het |
| Or5p53 |
T |
G |
7: 107,532,892 (GRCm39) |
L55R |
probably damaging |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,361,982 (GRCm39) |
V1018A |
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,596,842 (GRCm39) |
L761P |
probably damaging |
Het |
| Ppp1r36 |
T |
C |
12: 76,485,215 (GRCm39) |
S313P |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,646 (GRCm39) |
G444C |
probably damaging |
Het |
| Rfxank |
A |
T |
8: 70,587,960 (GRCm39) |
V149D |
probably damaging |
Het |
| Rimbp2 |
G |
A |
5: 128,857,395 (GRCm39) |
H819Y |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,101,821 (GRCm39) |
Y395C |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,542,901 (GRCm39) |
|
probably null |
Het |
| Slc46a2 |
T |
A |
4: 59,914,713 (GRCm39) |
D70V |
probably damaging |
Het |
| Smpdl3a |
A |
C |
10: 57,677,032 (GRCm39) |
L43F |
possibly damaging |
Het |
| Spcs1 |
T |
A |
14: 30,722,103 (GRCm39) |
D146V |
possibly damaging |
Het |
| Srcin1 |
T |
C |
11: 97,442,804 (GRCm39) |
D8G |
probably damaging |
Het |
| Stra6 |
G |
T |
9: 58,056,488 (GRCm39) |
L373F |
probably damaging |
Het |
| Tacc1 |
A |
T |
8: 25,672,299 (GRCm39) |
S310T |
possibly damaging |
Het |
| Tlr12 |
T |
C |
4: 128,509,566 (GRCm39) |
S895G |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,887,258 (GRCm39) |
V89A |
probably damaging |
Het |
| Top1 |
C |
T |
2: 160,488,009 (GRCm39) |
|
probably benign |
Het |
| Trappc13 |
T |
G |
13: 104,297,509 (GRCm39) |
I132L |
probably benign |
Het |
| Trpt1 |
C |
T |
19: 6,976,349 (GRCm39) |
Q249* |
probably null |
Het |
| Tsnaxip1 |
A |
C |
8: 106,569,179 (GRCm39) |
K510Q |
probably damaging |
Het |
| Usp39 |
A |
T |
6: 72,305,657 (GRCm39) |
N375K |
probably benign |
Het |
| Vldlr |
T |
A |
19: 27,212,258 (GRCm39) |
C91S |
probably damaging |
Het |
| Vmn1r232 |
T |
A |
17: 21,134,239 (GRCm39) |
L120F |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,264,707 (GRCm39) |
V13A |
probably benign |
Het |
| Wsb2 |
A |
T |
5: 117,514,766 (GRCm39) |
I321F |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,389,949 (GRCm39) |
V4841E |
unknown |
Het |
| Zfy1 |
A |
T |
Y: 725,723 (GRCm39) |
F681I |
possibly damaging |
Het |
| Zpld1 |
C |
A |
16: 55,067,017 (GRCm39) |
E179D |
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 |
|
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'- GAAAGAGACTGTTTCCCCAGATC -3'
(R):5'- GCCACAGTGAAGCAACTGTC -3'
Sequencing Primer
(F):5'- AGAGACTGTTTCCCCAGATCTAGATC -3'
(R):5'- GTGAAGCAACTGTCAGAACATAATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation