Incidental Mutation 'R1269:Wfikkn2'
| ID |
151254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wfikkn2
|
| Ensembl Gene |
ENSMUSG00000044177 |
| Gene Name |
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 |
| Synonyms |
2610304F08Rik, Gasp1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1269 (G1)
|
| Quality Score |
195 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94126782-94136831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94129301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 280
(Y280C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061469]
|
| AlphaFold |
Q7TQN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061469
AA Change: Y280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: Y280C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
WAP
|
37 |
87 |
1.77e-3 |
SMART |
|
low complexity region
|
91 |
102 |
N/A |
INTRINSIC |
|
KAZAL
|
128 |
170 |
1.5e-2 |
SMART |
|
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
IGc2
|
217 |
289 |
1.3e-11 |
SMART |
|
KU
|
321 |
374 |
2e-14 |
SMART |
|
KU
|
379 |
432 |
2.79e-27 |
SMART |
|
Pfam:NTR
|
451 |
556 |
2.1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131352
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show impaired muscle regeneration and a mild decrease in skeletal muscle weight in males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,742,857 (GRCm39) |
|
probably null |
Het |
| Ccdc9b |
C |
T |
2: 118,591,871 (GRCm39) |
E90K |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,238,657 (GRCm39) |
V400M |
probably damaging |
Het |
| Epc2 |
T |
A |
2: 49,412,588 (GRCm39) |
S189T |
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,428,823 (GRCm39) |
S83P |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,247,016 (GRCm39) |
D809G |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,912,202 (GRCm39) |
E1195G |
probably benign |
Het |
| Nfasc |
G |
T |
1: 132,538,526 (GRCm39) |
P454T |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,052,763 (GRCm39) |
I894N |
possibly damaging |
Het |
| Picalm |
A |
T |
7: 89,814,757 (GRCm39) |
R129* |
probably null |
Het |
| Plekhg3 |
T |
C |
12: 76,607,243 (GRCm39) |
I101T |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,021,590 (GRCm39) |
D38G |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,714,956 (GRCm39) |
S3P |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sytl1 |
A |
T |
4: 132,983,426 (GRCm39) |
L370Q |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,899,185 (GRCm39) |
I2658F |
possibly damaging |
Het |
| Tmc5 |
A |
G |
7: 118,265,816 (GRCm39) |
M769V |
probably benign |
Het |
| Tspan8 |
A |
G |
10: 115,685,287 (GRCm39) |
I232V |
probably damaging |
Het |
| Wbp1 |
G |
A |
6: 83,096,584 (GRCm39) |
T156I |
probably benign |
Het |
| Xrcc6 |
A |
T |
15: 81,907,048 (GRCm39) |
Q123H |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 24,923,788 (GRCm39) |
S16P |
probably benign |
Het |
|
| Other mutations in Wfikkn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00816:Wfikkn2
|
APN |
11 |
94,128,921 (GRCm39) |
nonsense |
probably null |
|
|
R1466:Wfikkn2
|
UTSW |
11 |
94,129,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Wfikkn2
|
UTSW |
11 |
94,129,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1519:Wfikkn2
|
UTSW |
11 |
94,128,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1584:Wfikkn2
|
UTSW |
11 |
94,129,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Wfikkn2
|
UTSW |
11 |
94,128,949 (GRCm39) |
nonsense |
probably null |
|
|
R2026:Wfikkn2
|
UTSW |
11 |
94,129,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2842:Wfikkn2
|
UTSW |
11 |
94,129,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Wfikkn2
|
UTSW |
11 |
94,129,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Wfikkn2
|
UTSW |
11 |
94,129,878 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5087:Wfikkn2
|
UTSW |
11 |
94,129,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5775:Wfikkn2
|
UTSW |
11 |
94,129,114 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5966:Wfikkn2
|
UTSW |
11 |
94,129,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Wfikkn2
|
UTSW |
11 |
94,128,866 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7539:Wfikkn2
|
UTSW |
11 |
94,133,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Wfikkn2
|
UTSW |
11 |
94,128,738 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7849:Wfikkn2
|
UTSW |
11 |
94,129,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7879:Wfikkn2
|
UTSW |
11 |
94,129,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8299:Wfikkn2
|
UTSW |
11 |
94,129,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9312:Wfikkn2
|
UTSW |
11 |
94,129,497 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9752:Wfikkn2
|
UTSW |
11 |
94,129,211 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1176:Wfikkn2
|
UTSW |
11 |
94,129,227 (GRCm39) |
missense |
not run |
|
|
Z1176:Wfikkn2
|
UTSW |
11 |
94,128,478 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAGTTGTTACCGTTGCCCTCAC -3'
(R):5'- ACCATCCTGTCCATCAGTCAGTCAC -3'
Sequencing Primer
(F):5'- GCCTCGTAGGTCTCAAAGTG -3'
(R):5'- ATCAGTCAGTCACCGTGGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation