Incidental Mutation 'IGL02625:Wdr6'
| ID |
301043 |
| 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 # |
IGL02625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108452704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 393
(Y393C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000195249]
[ENSMUST00000193427]
|
| AlphaFold |
Q99ME2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006853
|
| SMART Domains |
Protein: ENSMUSP00000006853
Gene: ENSMUSG00000006675
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
P4Hc
|
143 |
460 |
1.26e-19 |
SMART |
|
| 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: Y393C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: Y393C
| 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: ENSMUST00000191674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191897
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193044
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
| 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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg6 |
T |
A |
4: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
| Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
| Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
| Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
G |
T |
5: 24,796,709 (GRCm39) |
E552* |
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
| Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
| Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
| Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
| H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
| H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
| Jcad |
A |
G |
18: 4,674,422 (GRCm39) |
E728G |
probably benign |
Het |
| Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
| Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
| Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
| Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
| Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
| Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
| Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
| Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
| Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
| Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,830,039 (GRCm39) |
G141W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
| Trim13 |
T |
A |
14: 61,842,999 (GRCm39) |
S339T |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,239 (GRCm39) |
K133E |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
| Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation