Incidental Mutation 'R0038:Wdr6'
ID |
32824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdr6
|
Ensembl Gene |
ENSMUSG00000066357 |
Gene Name |
WD repeat domain 6 |
Synonyms |
|
MMRRC Submission |
038332-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.286)
|
Stock # |
R0038 (G1)
|
Quality Score |
162 |
Status
|
Validated
(trace)
|
Chromosome |
9 |
Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108450168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 1120
(V1120D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000193427]
[ENSMUST00000195249]
|
AlphaFold |
Q99ME2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019183
|
SMART Domains |
Protein: ENSMUSP00000019183 Gene: ENSMUSG00000019039
Domain | Start | End | E-Value | Type |
low complexity region
|
288 |
301 |
N/A |
INTRINSIC |
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
DALR_1
|
399 |
538 |
2.09e-22 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068700
AA Change: V1120D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000070927 Gene: ENSMUSG00000066357 AA Change: V1120D
Domain | Start | End | E-Value | Type |
Blast:WD40
|
109 |
142 |
3e-6 |
BLAST |
WD40
|
198 |
237 |
1.42e-4 |
SMART |
WD40
|
247 |
284 |
7.28e-2 |
SMART |
WD40
|
286 |
326 |
1.72e-3 |
SMART |
Blast:WD40
|
336 |
375 |
3e-13 |
BLAST |
WD40
|
479 |
519 |
2.96e1 |
SMART |
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
WD40
|
559 |
598 |
1.77e2 |
SMART |
Blast:WD40
|
600 |
641 |
7e-20 |
BLAST |
Blast:WD40
|
764 |
815 |
2e-22 |
BLAST |
Blast:WD40
|
855 |
896 |
2e-11 |
BLAST |
WD40
|
900 |
949 |
1.48e1 |
SMART |
WD40
|
973 |
1015 |
5.52e-2 |
SMART |
WD40
|
1035 |
1076 |
3.98e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193427
|
SMART Domains |
Protein: ENSMUSP00000141748 Gene: ENSMUSG00000019039
Domain | Start | End | E-Value | Type |
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
DALR_1
|
68 |
171 |
1.3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
Meta Mutation Damage Score |
0.3317 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (72/72) |
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. The encoded protein interacts with serine/threonine kinase 11, and is implicated in cell growth arrest. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
Arl9 |
G |
A |
5: 77,154,322 (GRCm39) |
E17K |
probably benign |
Het |
Bbs9 |
G |
A |
9: 22,415,390 (GRCm39) |
V105I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,813,620 (GRCm39) |
N1997K |
possibly damaging |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,598,825 (GRCm39) |
L56Q |
unknown |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
G |
A |
7: 25,614,287 (GRCm39) |
A254T |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,171,384 (GRCm39) |
M340L |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,826,306 (GRCm39) |
T4549A |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,608 (GRCm39) |
W50R |
probably damaging |
Het |
Ggt7 |
T |
C |
2: 155,344,701 (GRCm39) |
D214G |
probably benign |
Het |
Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,471 (GRCm39) |
N613S |
probably null |
Het |
Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
Hr |
T |
C |
14: 70,805,525 (GRCm39) |
L1091P |
probably damaging |
Het |
Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,312,097 (GRCm39) |
S886P |
probably damaging |
Het |
Iqcg |
C |
A |
16: 32,866,012 (GRCm39) |
L110F |
probably benign |
Het |
Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
Kremen1 |
A |
C |
11: 5,157,703 (GRCm39) |
|
probably benign |
Het |
Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
Lin52 |
C |
G |
12: 84,576,499 (GRCm39) |
L111V |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,891,504 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,288,028 (GRCm39) |
I1124T |
possibly damaging |
Het |
Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
Ptprg |
T |
A |
14: 12,213,710 (GRCm38) |
M1026K |
probably damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,976,703 (GRCm39) |
I1368V |
probably benign |
Het |
Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
Sos2 |
T |
G |
12: 69,643,467 (GRCm39) |
Q971P |
probably damaging |
Het |
Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,526,313 (GRCm39) |
C857S |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,637,388 (GRCm39) |
S204P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,010 (GRCm39) |
T283S |
possibly damaging |
Het |
Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
probably benign |
Het |
|
Other mutations in Wdr6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01548:Wdr6
|
APN |
9 |
108,452,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01757:Wdr6
|
APN |
9 |
108,453,427 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02096:Wdr6
|
APN |
9 |
108,453,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02577:Wdr6
|
APN |
9 |
108,453,140 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02625:Wdr6
|
APN |
9 |
108,452,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Wdr6
|
APN |
9 |
108,455,743 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03250:Wdr6
|
APN |
9 |
108,450,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4802001:Wdr6
|
UTSW |
9 |
108,451,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0153:Wdr6
|
UTSW |
9 |
108,452,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Wdr6
|
UTSW |
9 |
108,453,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Wdr6
|
UTSW |
9 |
108,450,300 (GRCm39) |
missense |
probably benign |
0.41 |
R1620:Wdr6
|
UTSW |
9 |
108,451,854 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1753:Wdr6
|
UTSW |
9 |
108,452,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R1844:Wdr6
|
UTSW |
9 |
108,453,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R1881:Wdr6
|
UTSW |
9 |
108,450,378 (GRCm39) |
splice site |
probably null |
|
R1987:Wdr6
|
UTSW |
9 |
108,453,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R2029:Wdr6
|
UTSW |
9 |
108,452,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R2139:Wdr6
|
UTSW |
9 |
108,451,322 (GRCm39) |
missense |
probably benign |
0.00 |
R3900:Wdr6
|
UTSW |
9 |
108,452,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R4021:Wdr6
|
UTSW |
9 |
108,452,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Wdr6
|
UTSW |
9 |
108,450,187 (GRCm39) |
missense |
probably benign |
0.28 |
R5073:Wdr6
|
UTSW |
9 |
108,451,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R5748:Wdr6
|
UTSW |
9 |
108,452,981 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
R6039:Wdr6
|
UTSW |
9 |
108,450,994 (GRCm39) |
frame shift |
probably null |
|
R6254:Wdr6
|
UTSW |
9 |
108,452,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6724:Wdr6
|
UTSW |
9 |
108,452,093 (GRCm39) |
missense |
probably benign |
0.11 |
R7134:Wdr6
|
UTSW |
9 |
108,450,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R7248:Wdr6
|
UTSW |
9 |
108,453,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7296:Wdr6
|
UTSW |
9 |
108,451,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7388:Wdr6
|
UTSW |
9 |
108,451,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Wdr6
|
UTSW |
9 |
108,451,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R7467:Wdr6
|
UTSW |
9 |
108,450,201 (GRCm39) |
missense |
probably benign |
0.14 |
R7672:Wdr6
|
UTSW |
9 |
108,450,947 (GRCm39) |
missense |
probably benign |
0.06 |
R7699:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7700:Wdr6
|
UTSW |
9 |
108,453,560 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8559:Wdr6
|
UTSW |
9 |
108,452,593 (GRCm39) |
missense |
probably benign |
0.34 |
R9076:Wdr6
|
UTSW |
9 |
108,451,627 (GRCm39) |
missense |
probably benign |
0.18 |
R9273:Wdr6
|
UTSW |
9 |
108,450,691 (GRCm39) |
missense |
probably benign |
0.00 |
R9486:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:Wdr6
|
UTSW |
9 |
108,453,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R9679:Wdr6
|
UTSW |
9 |
108,450,358 (GRCm39) |
missense |
probably benign |
0.27 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGACCTCACAGATGTTGGGCAC -3'
(R):5'- AGCTCATGGTCTCAGCCTCCATAG -3'
Sequencing Primer
(F):5'- CTCACAGATGTTGGGCACTTAAAG -3'
(R):5'- CATAGACCAGCGGCTGAC -3'
|
Posted On |
2013-05-09 |