Incidental Mutation 'R2362:Wdr11'
| ID |
247186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr11
|
| Ensembl Gene |
ENSMUSG00000042055 |
| Gene Name |
WD repeat domain 11 |
| Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.245)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129236560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1178
(I1178N)
|
| 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: I1178N
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081567
Gene: ENSMUSG00000042055
AA Change: I1178N
| 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 |
noncoding transcript
Transcript: ENSMUST00000140877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149541
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
T |
C |
7: 119,127,649 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
| Clk3 |
T |
C |
9: 57,661,902 (GRCm39) |
I382V |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,610 (GRCm39) |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Rbm14 |
T |
C |
19: 4,851,735 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,236,261 (GRCm39) |
I20V |
probably damaging |
Het |
| Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably 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 |
|
|
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 |
|
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'- AAACATGGACTCAGCTGGGG -3'
(R):5'- TGACCATAGCTGTGACCAGG -3'
Sequencing Primer
(F):5'- GGCAAGGTACAAGGTCACCTC -3'
(R):5'- CATAGCTGTGACCAGGAGCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation