Incidental Mutation 'IGL01823:Wnt8a'
| ID |
154591 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnt8a
|
| Ensembl Gene |
ENSMUSG00000012282 |
| Gene Name |
wingless-type MMTV integration site family, member 8A |
| Synonyms |
Stra11 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34675380-34681114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34677846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 85
(T85S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012426]
|
| AlphaFold |
Q64527 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012426
AA Change: T85S
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000012426
Gene: ENSMUSG00000012282
AA Change: T85S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
WNT1
|
21 |
337 |
2.26e-155 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc30a8 |
A |
G |
15: 52,159,358 (GRCm39) |
|
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
|
| Other mutations in Wnt8a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Wnt8a
|
APN |
18 |
34,677,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02964:Wnt8a
|
APN |
18 |
34,675,474 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4486001:Wnt8a
|
UTSW |
18 |
34,680,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Wnt8a
|
UTSW |
18 |
34,677,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Wnt8a
|
UTSW |
18 |
34,680,618 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1813:Wnt8a
|
UTSW |
18 |
34,675,422 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R1990:Wnt8a
|
UTSW |
18 |
34,677,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Wnt8a
|
UTSW |
18 |
34,677,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Wnt8a
|
UTSW |
18 |
34,677,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Wnt8a
|
UTSW |
18 |
34,680,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Wnt8a
|
UTSW |
18 |
34,678,656 (GRCm39) |
nonsense |
probably null |
|
|
R6161:Wnt8a
|
UTSW |
18 |
34,678,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7719:Wnt8a
|
UTSW |
18 |
34,680,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8001:Wnt8a
|
UTSW |
18 |
34,678,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9022:Wnt8a
|
UTSW |
18 |
34,680,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Wnt8a
|
UTSW |
18 |
34,680,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation