Incidental Mutation 'IGL00433:Wnt7a'
| ID |
5401 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnt7a
|
| Ensembl Gene |
ENSMUSG00000030093 |
| Gene Name |
wingless-type MMTV integration site family, member 7A |
| Synonyms |
tw, Wnt-7a |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.689)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
91340963-91388335 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91342973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 303
(G303D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032180]
|
| AlphaFold |
P24383 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032180
AA Change: G303D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: G303D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
WNT1
|
40 |
349 |
1.57e-213 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133092
|
| 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 is a member of the WNT gene family, which consists of structurally related genes that 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 involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have skeletal abnormalities including absence of digits, especially of the forelimb, and sometimes absence of the ulna. Occasionally, there is an extra set of ribs. Both sexes are sterile due to abnormalities of the Mullerian duct. [provided by MGI curators]
|
| Allele List at MGI |
Wnt7apx-r, Wnt7apx, Wnt7atm1Amc (Allele List at MGI) |
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
|
| Other mutations in Wnt7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01085:Wnt7a
|
APN |
6 |
91,385,771 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01784:Wnt7a
|
APN |
6 |
91,342,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01941:Wnt7a
|
APN |
6 |
91,371,645 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02415:Wnt7a
|
APN |
6 |
91,371,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
gimpy
|
UTSW |
6 |
91,342,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Wnt7a
|
UTSW |
6 |
91,371,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1993:Wnt7a
|
UTSW |
6 |
91,342,938 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1994:Wnt7a
|
UTSW |
6 |
91,342,938 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2291:Wnt7a
|
UTSW |
6 |
91,371,468 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4587:Wnt7a
|
UTSW |
6 |
91,343,324 (GRCm39) |
splice site |
probably null |
|
|
R5059:Wnt7a
|
UTSW |
6 |
91,371,482 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5632:Wnt7a
|
UTSW |
6 |
91,371,637 (GRCm39) |
nonsense |
probably null |
|
|
R5712:Wnt7a
|
UTSW |
6 |
91,343,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Wnt7a
|
UTSW |
6 |
91,371,540 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7480:Wnt7a
|
UTSW |
6 |
91,371,395 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8386:Wnt7a
|
UTSW |
6 |
91,343,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Wnt7a
|
UTSW |
6 |
91,343,297 (GRCm39) |
missense |
probably benign |
0.25 |
|
RF015:Wnt7a
|
UTSW |
6 |
91,371,405 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Posted On |
2012-04-20 |
Incidental Mutation