Incidental Mutation 'R6504:Wif1'
| ID |
523628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wif1
|
| Ensembl Gene |
ENSMUSG00000020218 |
| Gene Name |
Wnt inhibitory factor 1 |
| Synonyms |
WIF-1 |
| MMRRC Submission |
044636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
120869909-120936547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 120870996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Glutamic Acid
at position 92
(Q92E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020439]
[ENSMUST00000175867]
|
| AlphaFold |
Q9WUA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020439
AA Change: Q92E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020439
Gene: ENSMUSG00000020218
AA Change: Q92E
| 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 |
possibly damaging
Transcript: ENSMUST00000175867
AA Change: Q92E
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135486
Gene: ENSMUSG00000020218
AA Change: Q92E
| 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 |
0.3764 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,213,569 (GRCm39) |
T31A |
probably benign |
Het |
| Adam12 |
A |
T |
7: 133,531,713 (GRCm39) |
H507Q |
probably damaging |
Het |
| Ampd1 |
A |
G |
3: 103,006,911 (GRCm39) |
D712G |
possibly damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,176,358 (GRCm39) |
D351E |
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,863,121 (GRCm39) |
T1304A |
probably benign |
Het |
| Dhx36 |
G |
T |
3: 62,396,060 (GRCm39) |
A449E |
probably benign |
Het |
| Dmkn |
A |
T |
7: 30,475,854 (GRCm39) |
K2N |
possibly damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,846 (GRCm39) |
I1217T |
possibly damaging |
Het |
| Dph5 |
A |
G |
3: 115,720,452 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
C |
6: 83,985,907 (GRCm39) |
V4A |
probably benign |
Het |
| Elavl4 |
A |
T |
4: 110,112,579 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
C |
5: 110,856,703 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,223 (GRCm39) |
I3663T |
probably benign |
Het |
| Gm7233 |
T |
A |
14: 43,037,394 (GRCm39) |
D15E |
probably benign |
Het |
| Grik2 |
A |
G |
10: 49,232,198 (GRCm39) |
V444A |
probably damaging |
Het |
| Hdac4 |
T |
A |
1: 91,896,177 (GRCm39) |
I698F |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,518 (GRCm39) |
S1179P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,892,386 (GRCm39) |
D1936E |
probably benign |
Het |
| Ofcc1 |
A |
T |
13: 40,250,531 (GRCm39) |
L595Q |
probably damaging |
Het |
| Or10d3 |
C |
T |
9: 39,461,574 (GRCm39) |
V198M |
probably damaging |
Het |
| Or5b110-ps1 |
A |
C |
19: 13,259,848 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Orc1 |
A |
G |
4: 108,447,914 (GRCm39) |
I54V |
probably benign |
Het |
| Pom121l2 |
A |
G |
13: 22,167,631 (GRCm39) |
Q634R |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,525,364 (GRCm39) |
V414A |
unknown |
Het |
| Ranbp3l |
T |
C |
15: 8,997,946 (GRCm39) |
F13L |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,317,341 (GRCm39) |
|
probably null |
Het |
| Sh3d19 |
A |
G |
3: 85,992,643 (GRCm39) |
T224A |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,625,208 (GRCm39) |
Y217F |
probably benign |
Het |
| Slitrk1 |
A |
T |
14: 109,149,129 (GRCm39) |
H527Q |
probably benign |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,691,895 (GRCm39) |
I432M |
possibly damaging |
Het |
| Sulf2 |
A |
G |
2: 165,925,841 (GRCm39) |
Y439H |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,874,815 (GRCm39) |
C535* |
probably null |
Het |
| Tlr3 |
T |
C |
8: 45,850,486 (GRCm39) |
I280V |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,444 (GRCm39) |
S4269G |
probably benign |
Het |
| Vmn1r214 |
A |
T |
13: 23,219,610 (GRCm39) |
*368L |
probably null |
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 |
|
R4056:Wif1
|
UTSW |
10 |
120,918,099 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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'- TGCTTTCTACATGAAACGTCTG -3'
(R):5'- GAACTGATCCCTTGTGTGCTCTG -3'
Sequencing Primer
(F):5'- GTTTCTTAGAAACGCAACTAGTTTG -3'
(R):5'- CAACCAGGCAAGAACTTGTATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation