Incidental Mutation 'R6698:Wnt5a'
| ID |
528662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt5a
|
| Ensembl Gene |
ENSMUSG00000021994 |
| Gene Name |
wingless-type MMTV integration site family, member 5A |
| Synonyms |
8030457G12Rik, Wnt-5a |
| MMRRC Submission |
044816-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
28226707-28249405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28240420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 190
(Y190C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063465]
[ENSMUST00000112272]
|
| AlphaFold |
P22725 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063465
AA Change: Y190C
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994
AA Change: Y190C
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WNT1
|
1 |
46 |
7e-6 |
BLAST |
|
WNT1
|
71 |
380 |
6.71e-222 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112272
AA Change: Y170C
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000107891
Gene: ENSMUSG00000021994
AA Change: Y170C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
WNT1
|
51 |
360 |
6.71e-222 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134163
|
| Meta Mutation Damage Score |
0.2685 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
95% (40/42) |
| 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 encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
| Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
| Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
| Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
| Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
| Gask1b |
A |
G |
3: 79,843,902 (GRCm39) |
I10V |
probably damaging |
Het |
| Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
| Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
| Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
| Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
| Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
| Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
| Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
| Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
| Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
| Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
| Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
| Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
| Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
| Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
| Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
| Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
| Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
probably benign |
Het |
|
| Other mutations in Wnt5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Wnt5a
|
APN |
14 |
28,244,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Wnt5a
|
APN |
14 |
28,240,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02117:Wnt5a
|
APN |
14 |
28,228,077 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Wnt5a
|
APN |
14 |
28,244,871 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03123:Wnt5a
|
APN |
14 |
28,244,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Thrush
|
UTSW |
14 |
28,240,420 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0254:Wnt5a
|
UTSW |
14 |
28,244,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Wnt5a
|
UTSW |
14 |
28,235,225 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0365:Wnt5a
|
UTSW |
14 |
28,240,461 (GRCm39) |
nonsense |
probably null |
|
|
R1472:Wnt5a
|
UTSW |
14 |
28,240,461 (GRCm39) |
nonsense |
probably null |
|
|
R1661:Wnt5a
|
UTSW |
14 |
28,240,300 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1662:Wnt5a
|
UTSW |
14 |
28,240,300 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1762:Wnt5a
|
UTSW |
14 |
28,244,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Wnt5a
|
UTSW |
14 |
28,233,835 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R1933:Wnt5a
|
UTSW |
14 |
28,233,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2147:Wnt5a
|
UTSW |
14 |
28,235,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Wnt5a
|
UTSW |
14 |
28,235,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3078:Wnt5a
|
UTSW |
14 |
28,235,140 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Wnt5a
|
UTSW |
14 |
28,244,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3162:Wnt5a
|
UTSW |
14 |
28,244,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4237:Wnt5a
|
UTSW |
14 |
28,244,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Wnt5a
|
UTSW |
14 |
28,244,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6329:Wnt5a
|
UTSW |
14 |
28,240,449 (GRCm39) |
nonsense |
probably null |
|
|
R6974:Wnt5a
|
UTSW |
14 |
28,244,527 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7114:Wnt5a
|
UTSW |
14 |
28,244,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Wnt5a
|
UTSW |
14 |
28,240,329 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7457:Wnt5a
|
UTSW |
14 |
28,240,236 (GRCm39) |
splice site |
probably null |
|
|
R7666:Wnt5a
|
UTSW |
14 |
28,240,329 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8273:Wnt5a
|
UTSW |
14 |
28,244,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8349:Wnt5a
|
UTSW |
14 |
28,235,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8449:Wnt5a
|
UTSW |
14 |
28,235,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9135:Wnt5a
|
UTSW |
14 |
28,240,309 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9602:Wnt5a
|
UTSW |
14 |
28,240,295 (GRCm39) |
missense |
probably benign |
0.31 |
|
T0722:Wnt5a
|
UTSW |
14 |
28,233,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Wnt5a
|
UTSW |
14 |
28,244,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Wnt5a
|
UTSW |
14 |
28,233,864 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTTAATCGCAGGCAGCC -3'
(R):5'- GTATCCGGAGAGACCTGAACTG -3'
Sequencing Primer
(F):5'- CGAGAGACGGCCTTCACGTAC -3'
(R):5'- AGGACCCAACTCCTGTGTGTG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation