Incidental Mutation 'IGL02820:Wdr6'
| ID |
360966 |
| 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: 0.286)
|
| Stock # |
IGL02820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108449510-108455862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108455743 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 17
(I17T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006853]
[ENSMUST00000068700]
[ENSMUST00000193621]
|
| 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: ENSMUST00000068700
AA Change: I17T
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000070927
Gene: ENSMUSG00000066357
AA Change: I17T
| 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 |
probably benign
Transcript: ENSMUST00000192080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193621
|
| SMART Domains |
Protein: ENSMUSP00000141843
Gene: ENSMUSG00000006675
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
Blast:P4Hc
|
143 |
211 |
5e-39 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195181
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624G23Rik |
T |
C |
12: 24,124,417 (GRCm39) |
Y86C |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,607,535 (GRCm39) |
V47M |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,912,921 (GRCm39) |
C349R |
possibly damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,914 (GRCm39) |
|
probably benign |
Het |
| Apobec2 |
A |
G |
17: 48,730,295 (GRCm39) |
S124P |
probably damaging |
Het |
| Brd8 |
G |
A |
18: 34,740,354 (GRCm39) |
S493L |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,944 (GRCm39) |
Y126H |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,364,721 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,219,411 (GRCm39) |
H283L |
probably damaging |
Het |
| Cfap251 |
A |
G |
5: 123,392,699 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,478,834 (GRCm39) |
D718G |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,739,493 (GRCm39) |
Y979N |
probably damaging |
Het |
| Ddias |
T |
C |
7: 92,508,551 (GRCm39) |
T455A |
probably benign |
Het |
| Dennd5b |
T |
C |
6: 148,920,840 (GRCm39) |
R851G |
probably null |
Het |
| Dock1 |
T |
C |
7: 134,768,944 (GRCm39) |
V1771A |
probably benign |
Het |
| Dysf |
T |
A |
6: 84,077,187 (GRCm39) |
L694Q |
probably damaging |
Het |
| Faim2 |
T |
C |
15: 99,419,138 (GRCm39) |
Y77C |
probably benign |
Het |
| Fbxw22 |
A |
T |
9: 109,215,732 (GRCm39) |
I172N |
probably damaging |
Het |
| Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
| Fyb1 |
T |
G |
15: 6,688,040 (GRCm39) |
V800G |
possibly damaging |
Het |
| Gcm1 |
T |
C |
9: 77,971,844 (GRCm39) |
F262L |
probably benign |
Het |
| Gm21983 |
T |
C |
7: 26,879,605 (GRCm39) |
M121V |
probably benign |
Het |
| Gm9996 |
A |
T |
10: 29,019,657 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,876,074 (GRCm39) |
|
probably benign |
Het |
| Gsto2 |
G |
T |
19: 47,863,398 (GRCm39) |
E91D |
probably damaging |
Het |
| Hs6st3 |
G |
T |
14: 119,376,492 (GRCm39) |
M222I |
possibly damaging |
Het |
| Ighv3-6 |
T |
C |
12: 114,251,850 (GRCm39) |
D90G |
probably damaging |
Het |
| Itgb1bp1 |
C |
T |
12: 21,326,854 (GRCm39) |
A40T |
possibly damaging |
Het |
| Kcns3 |
C |
T |
12: 11,141,872 (GRCm39) |
E276K |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,813,034 (GRCm39) |
R1007C |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,978,877 (GRCm39) |
M125K |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,812,643 (GRCm39) |
N1018K |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,895,290 (GRCm39) |
S186C |
probably damaging |
Het |
| Or1j20 |
A |
T |
2: 36,759,871 (GRCm39) |
T98S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,109,519 (GRCm39) |
T433A |
possibly damaging |
Het |
| Rdh13 |
C |
T |
7: 4,438,059 (GRCm39) |
V127M |
probably damaging |
Het |
| Rdh16 |
A |
G |
10: 127,649,470 (GRCm39) |
T309A |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,506,312 (GRCm39) |
D21E |
probably benign |
Het |
| Rptn |
A |
T |
3: 93,304,227 (GRCm39) |
N520I |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,047,122 (GRCm39) |
L928P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,254,273 (GRCm39) |
I212V |
probably benign |
Het |
| Snupn |
A |
G |
9: 56,870,332 (GRCm39) |
T71A |
probably benign |
Het |
| Ssu2 |
T |
C |
6: 112,359,353 (GRCm39) |
N89S |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,071 (GRCm39) |
S1535P |
probably damaging |
Het |
| Tmt1a |
C |
A |
15: 100,202,933 (GRCm39) |
S51* |
probably null |
Het |
| Uba7 |
A |
T |
9: 107,858,715 (GRCm39) |
S849C |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,007,439 (GRCm39) |
T472A |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,173 (GRCm39) |
V230I |
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 |
|
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 |
2015-12-18 |
Incidental Mutation