Incidental Mutation 'R4056:Wif1'
ID |
314257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wif1
|
Ensembl Gene |
ENSMUSG00000020218 |
Gene Name |
Wnt inhibitory factor 1 |
Synonyms |
WIF-1 |
MMRRC Submission |
041617-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4056 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
120869909-120936547 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120918099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 156
(V156I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020439]
[ENSMUST00000175867]
|
AlphaFold |
Q9WUA1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020439
AA Change: V156I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020439 Gene: ENSMUSG00000020218 AA Change: V156I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
WIF
|
35 |
179 |
8.47e-90 |
SMART |
EGF
|
181 |
210 |
3.88e-3 |
SMART |
EGF
|
213 |
242 |
4.46e-3 |
SMART |
EGF
|
245 |
274 |
4.7e-2 |
SMART |
EGF
|
277 |
306 |
1.69e-3 |
SMART |
EGF
|
309 |
338 |
7.95e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145691
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175867
AA Change: V156I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000135486 Gene: ENSMUSG00000020218 AA Change: V156I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
WIF
|
35 |
179 |
8.47e-90 |
SMART |
EGF
|
181 |
210 |
3.88e-3 |
SMART |
EGF
|
213 |
242 |
4.46e-3 |
SMART |
EGF
|
245 |
274 |
4.7e-2 |
SMART |
EGF
|
295 |
324 |
7.95e0 |
SMART |
|
Meta Mutation Damage Score |
0.1266 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (39/39) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010] PHENOTYPE: Homozygous null mice are viable and fertile but display increased susceptibility to spontaneous and induced osteosarcomas. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
A |
11: 80,266,329 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,270,807 (GRCm39) |
I510T |
possibly damaging |
Het |
Adamts18 |
T |
A |
8: 114,464,212 (GRCm39) |
K749* |
probably null |
Het |
Alms1 |
A |
G |
6: 85,564,785 (GRCm39) |
E53G |
unknown |
Het |
Bmper |
A |
G |
9: 23,310,925 (GRCm39) |
H453R |
probably benign |
Het |
Btg1 |
T |
A |
10: 96,454,216 (GRCm39) |
M1K |
probably null |
Het |
Cfap91 |
A |
G |
16: 38,118,576 (GRCm39) |
V741A |
probably benign |
Het |
Cntfr |
A |
G |
4: 41,658,900 (GRCm39) |
I277T |
probably damaging |
Het |
Col6a4 |
C |
A |
9: 105,903,665 (GRCm39) |
R1642I |
probably damaging |
Het |
Ctnna3 |
T |
C |
10: 64,838,347 (GRCm39) |
I808T |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,607,432 (GRCm39) |
V20D |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,961,364 (GRCm39) |
T2554A |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,803,541 (GRCm39) |
Q1715L |
probably benign |
Het |
Gabarapl1 |
T |
C |
6: 129,515,593 (GRCm39) |
F77S |
probably damaging |
Het |
Gvin3 |
G |
T |
7: 106,203,216 (GRCm39) |
D9E |
possibly damaging |
Het |
Hpse2 |
T |
C |
19: 43,282,714 (GRCm39) |
K180E |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,925 (GRCm39) |
L257Q |
probably damaging |
Het |
Ighv1-18 |
T |
C |
12: 114,646,287 (GRCm39) |
T106A |
probably benign |
Het |
Ints2 |
A |
C |
11: 86,133,778 (GRCm39) |
L424R |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,886,541 (GRCm39) |
V114A |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,134,579 (GRCm39) |
I401N |
probably damaging |
Het |
Mast2 |
T |
A |
4: 116,194,698 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,702,839 (GRCm39) |
E5G |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,716,394 (GRCm39) |
|
probably null |
Het |
Net1 |
G |
A |
13: 3,934,949 (GRCm39) |
T359I |
probably damaging |
Het |
Pcsk9 |
T |
A |
4: 106,301,899 (GRCm39) |
H616L |
probably benign |
Het |
Plekha5 |
G |
T |
6: 140,534,958 (GRCm39) |
V597L |
possibly damaging |
Het |
Plekhg3 |
T |
A |
12: 76,612,021 (GRCm39) |
I374N |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,721,008 (GRCm39) |
R188* |
probably null |
Het |
Rhbg |
C |
T |
3: 88,150,755 (GRCm39) |
V434I |
probably damaging |
Het |
Rims1 |
A |
G |
1: 22,363,163 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
T |
C |
5: 149,975,098 (GRCm39) |
|
probably null |
Het |
Sbf2 |
T |
C |
7: 110,040,673 (GRCm39) |
I385V |
probably damaging |
Het |
Slc22a23 |
A |
C |
13: 34,482,987 (GRCm39) |
Y181* |
probably null |
Het |
Spata31 |
T |
A |
13: 65,069,469 (GRCm39) |
V539E |
probably benign |
Het |
Trpv5 |
G |
A |
6: 41,636,639 (GRCm39) |
R436C |
probably damaging |
Het |
Vmn1r13 |
G |
A |
6: 57,186,970 (GRCm39) |
C43Y |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,641,057 (GRCm39) |
N1229S |
probably damaging |
Het |
|
Other mutations in Wif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01384:Wif1
|
APN |
10 |
120,920,855 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL01707:Wif1
|
APN |
10 |
120,919,890 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01932:Wif1
|
APN |
10 |
120,931,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02183:Wif1
|
APN |
10 |
120,911,181 (GRCm39) |
missense |
probably damaging |
1.00 |
R0653:Wif1
|
UTSW |
10 |
120,935,704 (GRCm39) |
missense |
probably benign |
0.01 |
R1858:Wif1
|
UTSW |
10 |
120,919,788 (GRCm39) |
splice site |
probably null |
|
R1869:Wif1
|
UTSW |
10 |
120,920,824 (GRCm39) |
missense |
probably benign |
0.00 |
R1871:Wif1
|
UTSW |
10 |
120,920,824 (GRCm39) |
missense |
probably benign |
0.00 |
R4057:Wif1
|
UTSW |
10 |
120,918,099 (GRCm39) |
missense |
probably benign |
0.04 |
R5056:Wif1
|
UTSW |
10 |
120,935,684 (GRCm39) |
missense |
probably benign |
0.00 |
R6242:Wif1
|
UTSW |
10 |
120,870,366 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6504:Wif1
|
UTSW |
10 |
120,870,996 (GRCm39) |
missense |
probably damaging |
0.96 |
R7220:Wif1
|
UTSW |
10 |
120,926,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7365:Wif1
|
UTSW |
10 |
120,919,814 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7456:Wif1
|
UTSW |
10 |
120,932,554 (GRCm39) |
missense |
probably benign |
|
R7707:Wif1
|
UTSW |
10 |
120,919,864 (GRCm39) |
missense |
probably damaging |
0.97 |
R8283:Wif1
|
UTSW |
10 |
120,931,952 (GRCm39) |
missense |
probably benign |
|
R8817:Wif1
|
UTSW |
10 |
120,932,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8940:Wif1
|
UTSW |
10 |
120,935,684 (GRCm39) |
missense |
probably benign |
0.11 |
R8959:Wif1
|
UTSW |
10 |
120,931,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R9628:Wif1
|
UTSW |
10 |
120,932,549 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Wif1
|
UTSW |
10 |
120,932,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTGGTGAGACATGAAAATCAC -3'
(R):5'- TGTGGTGTCAAAACTGGAGAAAATC -3'
Sequencing Primer
(F):5'- CACAGAATTGTAAACCTTTTGCTTCC -3'
(R):5'- AGACTCTCATTTTAGCTGCCTGGAAG -3'
|
Posted On |
2015-04-30 |