Incidental Mutation 'IGL03250:Wdr6'
ID |
414533 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdr6
|
Ensembl Gene |
ENSMUSG00000066357 |
Gene Name |
WD repeat domain 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.341)
|
Stock # |
IGL03250
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 108450396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1044
(V1044A)
|
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 |
possibly damaging
Transcript: ENSMUST00000068700
AA Change: V1044A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000070927 Gene: ENSMUSG00000066357 AA Change: V1044A
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 |
noncoding transcript
Transcript: ENSMUST00000193846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194104
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196210
|
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
Coding Region Coverage |
|
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. 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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,247,975 (GRCm39) |
N232S |
probably benign |
Het |
Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
possibly damaging |
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 |
PIT4802001:Wdr6
|
UTSW |
9 |
108,451,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0038:Wdr6
|
UTSW |
9 |
108,450,168 (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 |
|
Posted On |
2016-08-02 |