Incidental Mutation 'IGL01757:Wdr6'
| ID |
153219 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdr6
|
| Ensembl Gene |
ENSMUSG00000066357 |
| Gene Name |
WD repeat domain 6 |
| Synonyms |
|
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.346)
|
| Stock # |
IGL01757
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108572311-108578739 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108576228 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000019183]
[ENSMUST00000068700]
[ENSMUST00000193427]
[ENSMUST00000195249]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000068700
AA Change: V152A
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: V152A
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000193846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195249
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,990,281 |
|
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,796,159 |
Y1789C |
probably damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,180,001 |
Y537* |
probably null |
Het |
| Chic2 |
T |
C |
5: 75,006,767 |
|
probably benign |
Het |
| Cpa5 |
G |
A |
6: 30,625,927 |
|
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,129,346 |
R4G |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,768,927 |
V1510D |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,465,619 |
F91L |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,573,140 |
K189E |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,636,980 |
L123Q |
probably damaging |
Het |
| Ifna15 |
T |
C |
4: 88,558,085 |
K54R |
possibly damaging |
Het |
| Isg15 |
A |
G |
4: 156,199,844 |
C76R |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,541,867 |
|
probably benign |
Het |
| Lig4 |
A |
G |
8: 9,971,185 |
I865T |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 97,035,875 |
Y154C |
probably damaging |
Het |
| Lrrc8a |
G |
A |
2: 30,255,525 |
R117H |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,648,257 |
I96V |
probably damaging |
Het |
| Mtif2 |
G |
A |
11: 29,541,337 |
|
probably benign |
Het |
| Olfr134 |
G |
T |
17: 38,175,686 |
V201L |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,391,636 |
R269W |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 22,009,664 |
V8A |
probably benign |
Het |
| Slf1 |
T |
C |
13: 77,084,440 |
D515G |
probably benign |
Het |
| Spc25 |
G |
A |
2: 69,202,608 |
Q58* |
probably null |
Het |
| Sult2a5 |
T |
C |
7: 13,665,154 |
S229P |
probably damaging |
Het |
| Tfap2d |
A |
G |
1: 19,104,580 |
T86A |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,211,304 |
V1257A |
probably damaging |
Het |
| Zdhhc7 |
A |
G |
8: 120,087,923 |
V49A |
probably benign |
Het |
| Zfp648 |
T |
C |
1: 154,204,925 |
S277P |
probably damaging |
Het |
|
| Other mutations in Wdr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Wdr6
|
APN |
9 |
108574897 |
missense |
possibly damaging |
0.77 |
|
IGL02096:Wdr6
|
APN |
9 |
108576553 |
missense |
probably damaging |
1.00 |
|
IGL02577:Wdr6
|
APN |
9 |
108575941 |
missense |
possibly damaging |
0.88 |
|
IGL02625:Wdr6
|
APN |
9 |
108575505 |
missense |
probably damaging |
1.00 |
|
IGL02820:Wdr6
|
APN |
9 |
108578544 |
missense |
probably benign |
0.28 |
|
IGL03250:Wdr6
|
APN |
9 |
108573197 |
missense |
possibly damaging |
0.95 |
|
PIT4802001:Wdr6
|
UTSW |
9 |
108574566 |
missense |
probably damaging |
1.00 |
|
R0038:Wdr6
|
UTSW |
9 |
108572969 |
missense |
probably damaging |
1.00 |
|
R0153:Wdr6
|
UTSW |
9 |
108575242 |
missense |
probably damaging |
1.00 |
|
R0378:Wdr6
|
UTSW |
9 |
108575864 |
missense |
probably damaging |
1.00 |
|
R0420:Wdr6
|
UTSW |
9 |
108573101 |
missense |
probably benign |
0.41 |
|
R1620:Wdr6
|
UTSW |
9 |
108574655 |
missense |
possibly damaging |
0.51 |
|
R1753:Wdr6
|
UTSW |
9 |
108575164 |
missense |
probably damaging |
0.99 |
|
R1844:Wdr6
|
UTSW |
9 |
108575977 |
missense |
probably damaging |
1.00 |
|
R1881:Wdr6
|
UTSW |
9 |
108573179 |
splice site |
probably null |
|
|
R1987:Wdr6
|
UTSW |
9 |
108576534 |
missense |
probably damaging |
1.00 |
|
R2029:Wdr6
|
UTSW |
9 |
108575355 |
missense |
probably damaging |
1.00 |
|
R2139:Wdr6
|
UTSW |
9 |
108574123 |
missense |
probably benign |
0.00 |
|
R3900:Wdr6
|
UTSW |
9 |
108575769 |
missense |
probably damaging |
1.00 |
|
R4021:Wdr6
|
UTSW |
9 |
108575206 |
missense |
probably damaging |
1.00 |
|
R4909:Wdr6
|
UTSW |
9 |
108572988 |
missense |
probably benign |
0.28 |
|
R5073:Wdr6
|
UTSW |
9 |
108574366 |
missense |
probably damaging |
1.00 |
|
R5748:Wdr6
|
UTSW |
9 |
108575782 |
missense |
possibly damaging |
0.75 |
|
R6039:Wdr6
|
UTSW |
9 |
108573795 |
frame shift |
probably null |
|
|
R6039:Wdr6
|
UTSW |
9 |
108573795 |
frame shift |
probably null |
|
|
R6254:Wdr6
|
UTSW |
9 |
108574911 |
missense |
probably damaging |
1.00 |
|
R6724:Wdr6
|
UTSW |
9 |
108574894 |
missense |
probably benign |
0.11 |
|
R7134:Wdr6
|
UTSW |
9 |
108573365 |
missense |
probably damaging |
1.00 |
|
R7248:Wdr6
|
UTSW |
9 |
108576039 |
missense |
possibly damaging |
0.82 |
|
R7296:Wdr6
|
UTSW |
9 |
108574585 |
missense |
probably damaging |
1.00 |
|
R7388:Wdr6
|
UTSW |
9 |
108574772 |
missense |
probably damaging |
1.00 |
|
R7443:Wdr6
|
UTSW |
9 |
108574290 |
missense |
probably damaging |
1.00 |
|
R7467:Wdr6
|
UTSW |
9 |
108573002 |
missense |
probably benign |
0.14 |
|
R7672:Wdr6
|
UTSW |
9 |
108573748 |
missense |
probably benign |
0.06 |
|
R7699:Wdr6
|
UTSW |
9 |
108576361 |
missense |
possibly damaging |
0.92 |
|
R7700:Wdr6
|
UTSW |
9 |
108576361 |
missense |
possibly damaging |
0.92 |
|
R8559:Wdr6
|
UTSW |
9 |
108575394 |
missense |
probably benign |
0.34 |
|
R9076:Wdr6
|
UTSW |
9 |
108574428 |
missense |
probably benign |
0.18 |
|
R9273:Wdr6
|
UTSW |
9 |
108573492 |
missense |
probably benign |
0.00 |
|
R9486:Wdr6
|
UTSW |
9 |
108575983 |
missense |
probably damaging |
1.00 |
|
R9488:Wdr6
|
UTSW |
9 |
108575983 |
missense |
probably damaging |
1.00 |
|
R9679:Wdr6
|
UTSW |
9 |
108573159 |
missense |
probably benign |
0.27 |
|
| Posted On |
2014-02-04 |
Incidental Mutation