Incidental Mutation 'R6687:Wnt3'
| ID |
527836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt3
|
| Ensembl Gene |
ENSMUSG00000000125 |
| Gene Name |
wingless-type MMTV integration site family, member 3 |
| Synonyms |
Wnt-3, Int-4 |
| MMRRC Submission |
044805-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6687 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103664976-103708783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103703411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 298
(R298L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000127]
|
| AlphaFold |
P17553 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000127
AA Change: R298L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000127
Gene: ENSMUSG00000000125
AA Change: R298L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
WNT1
|
47 |
355 |
1.24e-216 |
SMART |
|
| Meta Mutation Damage Score |
0.9619 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (33/33) |
| 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 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants develop to the egg cylinder stage, but fail to form a primitive streak, mesoderm, or node, and die by embryonic day 10.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,248,392 (GRCm39) |
V688A |
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,777,927 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
G |
13: 91,034,842 (GRCm39) |
F180S |
probably benign |
Het |
| Cfd |
G |
A |
10: 79,727,553 (GRCm39) |
V77M |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,422,764 (GRCm39) |
L1151H |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,428,215 (GRCm39) |
V854M |
possibly damaging |
Het |
| Dlg5 |
C |
T |
14: 24,240,441 (GRCm39) |
R247Q |
probably damaging |
Het |
| Fam3c |
G |
C |
6: 22,328,669 (GRCm39) |
P53A |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,574,619 (GRCm39) |
N302D |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,620,784 (GRCm39) |
V1142A |
probably benign |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,544 (GRCm39) |
S40F |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,248,111 (GRCm39) |
R478H |
probably benign |
Het |
| Kcna2 |
C |
A |
3: 107,012,343 (GRCm39) |
S308Y |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,948,156 (GRCm39) |
D985G |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,027,645 (GRCm39) |
H729L |
probably damaging |
Het |
| Lrrc14b |
T |
C |
13: 74,508,881 (GRCm39) |
M509V |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,284,798 (GRCm39) |
Y341C |
probably damaging |
Het |
| Mettl18 |
A |
G |
1: 163,824,369 (GRCm39) |
D230G |
possibly damaging |
Het |
| Mup12 |
T |
C |
4: 60,697,308 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,563,027 (GRCm39) |
S1020P |
probably benign |
Het |
| Or3a4 |
C |
A |
11: 73,945,210 (GRCm39) |
R125L |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,756,175 (GRCm39) |
I823T |
probably damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,751,496 (GRCm39) |
|
probably null |
Het |
| Rpl38 |
T |
C |
11: 114,559,594 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
T |
C |
15: 100,872,508 (GRCm39) |
F516L |
probably benign |
Het |
| Slc51a |
A |
T |
16: 32,298,543 (GRCm39) |
D71E |
probably damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,045,076 (GRCm39) |
E470G |
possibly damaging |
Het |
| Spag17 |
C |
A |
3: 100,000,266 (GRCm39) |
H1811N |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,996,753 (GRCm39) |
C1150Y |
probably damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Wdr83 |
C |
T |
8: 85,806,778 (GRCm39) |
V101I |
probably benign |
Het |
|
| Other mutations in Wnt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Wnt3
|
APN |
11 |
103,699,140 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01645:Wnt3
|
APN |
11 |
103,703,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01989:Wnt3
|
APN |
11 |
103,703,233 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02087:Wnt3
|
APN |
11 |
103,703,185 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02525:Wnt3
|
APN |
11 |
103,703,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Wnt3
|
UTSW |
11 |
103,703,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Wnt3
|
UTSW |
11 |
103,703,207 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1438:Wnt3
|
UTSW |
11 |
103,699,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2058:Wnt3
|
UTSW |
11 |
103,703,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2127:Wnt3
|
UTSW |
11 |
103,703,474 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2128:Wnt3
|
UTSW |
11 |
103,703,474 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4470:Wnt3
|
UTSW |
11 |
103,703,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4878:Wnt3
|
UTSW |
11 |
103,699,031 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5616:Wnt3
|
UTSW |
11 |
103,703,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6052:Wnt3
|
UTSW |
11 |
103,699,000 (GRCm39) |
nonsense |
probably null |
|
|
R6472:Wnt3
|
UTSW |
11 |
103,699,100 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7652:Wnt3
|
UTSW |
11 |
103,703,290 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7760:Wnt3
|
UTSW |
11 |
103,702,266 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGACAAGTACGACAGTGC -3'
(R):5'- ATCAGAAGAGCAGGCCTAGC -3'
Sequencing Primer
(F):5'- TACGACAGTGCCTCCGAGATG -3'
(R):5'- CTGGCTCACTACTTGCAGGTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation