Incidental Mutation 'IGL01517:Wnt9b'
| ID |
90433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wnt9b
|
| Ensembl Gene |
ENSMUSG00000018486 |
| Gene Name |
wingless-type MMTV integration site family, member 9B |
| Synonyms |
clf1, Wnt15, clf, Wnt14b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01517
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103618190-103640647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103621907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 250
(V250A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018630]
|
| AlphaFold |
O35468 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018630
AA Change: V250A
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: V250A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
52 |
N/A |
INTRINSIC |
|
WNT1
|
58 |
358 |
5.38e-98 |
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 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 a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display neonatal lethality, disrupted ureteric bud branching, impaired Mullerian duct formation, and incompletely penetrant cleft lip and palate. In mice with alleles that decrease expression kidneys are smaller with fewer mature nephrons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
| Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
| Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
| Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
| Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
| Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
| Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
| Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
| Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
| Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
| Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
| Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
| Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
| Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
| Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
| Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
| Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
| Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
| Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
| Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
| Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
| Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
| Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
Het |
|
| Other mutations in Wnt9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01081:Wnt9b
|
APN |
11 |
103,622,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Wnt9b
|
APN |
11 |
103,622,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
market
|
UTSW |
11 |
103,622,054 (GRCm39) |
splice site |
probably null |
|
|
R1711:Wnt9b
|
UTSW |
11 |
103,622,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Wnt9b
|
UTSW |
11 |
103,621,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Wnt9b
|
UTSW |
11 |
103,622,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Wnt9b
|
UTSW |
11 |
103,622,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Wnt9b
|
UTSW |
11 |
103,621,949 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5239:Wnt9b
|
UTSW |
11 |
103,622,054 (GRCm39) |
splice site |
probably null |
|
|
R5260:Wnt9b
|
UTSW |
11 |
103,622,875 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6962:Wnt9b
|
UTSW |
11 |
103,624,515 (GRCm39) |
missense |
probably null |
0.76 |
|
R7428:Wnt9b
|
UTSW |
11 |
103,621,643 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8186:Wnt9b
|
UTSW |
11 |
103,621,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8693:Wnt9b
|
UTSW |
11 |
103,624,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Wnt9b
|
UTSW |
11 |
103,624,476 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Wnt9b
|
UTSW |
11 |
103,622,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation