Incidental Mutation 'R4041:Wnt3a'
| ID |
313889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt3a
|
| Ensembl Gene |
ENSMUSG00000009900 |
| Gene Name |
wingless-type MMTV integration site family, member 3A |
| Synonyms |
Wnt-3a |
| MMRRC Submission |
040966-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4041 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59138859-59181578 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59140470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 349
(H349N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010044]
|
| AlphaFold |
P27467 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010044
AA Change: H349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010044
Gene: ENSMUSG00000009900
AA Change: H349N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
WNT1
|
44 |
352 |
9.57e-218 |
SMART |
|
| Meta Mutation Damage Score |
0.4006 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (29/29) |
| 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. It encodes a protein which shows 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die at embryonic day 10.5-12.5 with failed development of caudal somites, notochord and structures rostral to hindlimbs. Homozygotes for a hypomorphic allele have vertebral defects and a short tail due to loss of caudal vertebrae. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf5 |
T |
C |
7: 44,462,921 (GRCm39) |
T68A |
possibly damaging |
Het |
| Cage1 |
A |
G |
13: 38,203,153 (GRCm39) |
L637P |
possibly damaging |
Het |
| Cfl1 |
T |
C |
19: 5,542,556 (GRCm39) |
I12T |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,286,902 (GRCm39) |
E653G |
probably damaging |
Het |
| Cntnap5a |
C |
A |
1: 116,112,129 (GRCm39) |
P473Q |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,120,655 (GRCm39) |
S91P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,813,404 (GRCm39) |
Q2313R |
probably benign |
Het |
| Gpc5 |
A |
T |
14: 115,370,628 (GRCm39) |
Q151L |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,007,932 (GRCm39) |
E62G |
probably benign |
Het |
| Ifna13 |
A |
G |
4: 88,562,228 (GRCm39) |
F132S |
probably benign |
Het |
| Irgm2 |
A |
G |
11: 58,110,956 (GRCm39) |
M228V |
probably benign |
Het |
| Klhl41 |
A |
G |
2: 69,501,054 (GRCm39) |
M172V |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,878,986 (GRCm39) |
N260I |
probably damaging |
Het |
| Krit1 |
G |
C |
5: 3,859,642 (GRCm39) |
R110P |
probably damaging |
Het |
| Krt7 |
T |
A |
15: 101,321,161 (GRCm39) |
|
probably null |
Het |
| Lrrn4cl |
T |
A |
19: 8,829,468 (GRCm39) |
Y149N |
probably damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,801,899 (GRCm39) |
C739F |
possibly damaging |
Het |
| Mbnl2 |
C |
T |
14: 120,626,486 (GRCm39) |
H239Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,942,357 (GRCm39) |
R4942* |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,688 (GRCm39) |
L263P |
probably damaging |
Het |
| R3hcc1 |
A |
G |
14: 69,944,111 (GRCm39) |
S45P |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,785,356 (GRCm39) |
H1778Q |
possibly damaging |
Het |
| Scyl2 |
T |
A |
10: 89,485,914 (GRCm39) |
K558N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,991,586 (GRCm39) |
V677M |
unknown |
Het |
| Slc39a5 |
T |
C |
10: 128,232,337 (GRCm39) |
M488V |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,289,880 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
T |
C |
1: 165,927,680 (GRCm39) |
D644G |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,908,565 (GRCm39) |
V1047A |
probably benign |
Het |
| Zbtb39 |
T |
C |
10: 127,579,423 (GRCm39) |
C666R |
probably damaging |
Het |
| Zfp420 |
T |
C |
7: 29,575,427 (GRCm39) |
M549T |
probably benign |
Het |
|
| Other mutations in Wnt3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01108:Wnt3a
|
APN |
11 |
59,147,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0334:Wnt3a
|
UTSW |
11 |
59,147,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3912:Wnt3a
|
UTSW |
11 |
59,140,828 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4980:Wnt3a
|
UTSW |
11 |
59,140,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Wnt3a
|
UTSW |
11 |
59,166,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5528:Wnt3a
|
UTSW |
11 |
59,166,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5626:Wnt3a
|
UTSW |
11 |
59,181,409 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6355:Wnt3a
|
UTSW |
11 |
59,166,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Wnt3a
|
UTSW |
11 |
59,140,587 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8552:Wnt3a
|
UTSW |
11 |
59,166,043 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGGTCCTTAGGTATGAG -3'
(R):5'- TTCAAGGTGCCGACAGAAC -3'
Sequencing Primer
(F):5'- TATGAGACCCTCACAGGTAGGATCTC -3'
(R):5'- GAACGCGACCTGGTCTACTAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation