Incidental Mutation 'R3774:Wdr11'
ID |
273507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr11
|
Ensembl Gene |
ENSMUSG00000042055 |
Gene Name |
WD repeat domain 11 |
Synonyms |
Wdr11, Brwd2, 2900055P10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.245)
|
Stock # |
R3774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
129193587-129237462 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 129233417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081567
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084519]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000084519
|
SMART Domains |
Protein: ENSMUSP00000081567 Gene: ENSMUSG00000042055
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,638,734 (GRCm39) |
V213A |
probably benign |
Het |
Ccndbp1 |
A |
G |
2: 120,839,581 (GRCm39) |
K26R |
possibly damaging |
Het |
Chrna10 |
T |
C |
7: 101,763,535 (GRCm39) |
T87A |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,232,963 (GRCm39) |
N360K |
probably benign |
Het |
Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,022 (GRCm39) |
I79N |
probably damaging |
Het |
Dhdh |
T |
A |
7: 45,131,362 (GRCm39) |
D157V |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,094,377 (GRCm39) |
|
probably null |
Het |
Fbxo44 |
G |
T |
4: 148,241,051 (GRCm39) |
F179L |
probably damaging |
Het |
Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Itgav |
A |
G |
2: 83,622,308 (GRCm39) |
E630G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,213,048 (GRCm39) |
S159P |
probably damaging |
Het |
Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
Mon1a |
A |
G |
9: 107,778,502 (GRCm39) |
Y242C |
probably damaging |
Het |
Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
Olfm5 |
T |
A |
7: 103,811,056 (GRCm39) |
R27S |
possibly damaging |
Het |
Or52n2b |
T |
A |
7: 104,566,113 (GRCm39) |
Y130F |
probably benign |
Het |
Palmd |
T |
C |
3: 116,721,312 (GRCm39) |
E81G |
probably damaging |
Het |
Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
Phf11b |
A |
G |
14: 59,563,506 (GRCm39) |
L137S |
probably benign |
Het |
Phlpp1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
1: 106,320,921 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,800,065 (GRCm39) |
K472E |
probably benign |
Het |
Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,134,262 (GRCm39) |
H261R |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,382,589 (GRCm39) |
T264I |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,421,749 (GRCm39) |
Y1050C |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,406 (GRCm39) |
V352A |
probably damaging |
Het |
Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,104,783 (GRCm39) |
D12G |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,965,339 (GRCm39) |
S1611R |
probably benign |
Het |
Ttyh3 |
A |
G |
5: 140,634,489 (GRCm39) |
F32L |
probably damaging |
Het |
Unkl |
T |
A |
17: 25,407,381 (GRCm39) |
|
probably null |
Het |
Vwf |
T |
A |
6: 125,626,062 (GRCm39) |
|
probably null |
Het |
Yeats2 |
A |
G |
16: 19,969,245 (GRCm39) |
D12G |
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 |
|
R2362:Wdr11
|
UTSW |
7 |
129,236,560 (GRCm39) |
missense |
probably benign |
0.05 |
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'- TGCTGCCTTAGAGATGAAGTGC -3'
(R):5'- CATGTCTCTAACTGCCCAGC -3'
Sequencing Primer
(F):5'- TGAAGTGCAGGCGGTACTG -3'
(R):5'- GCAGTCAAAGTGCCTTACCTG -3'
|
Posted On |
2015-03-25 |