Incidental Mutation 'R2842:Wfikkn2'
| ID |
254345 |
| 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 # |
R2842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94126782-94136831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94129085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 352
(T352I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061469]
|
| AlphaFold |
Q7TQN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061469
AA Change: T352I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: T352I
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,082,989 (GRCm39) |
S181P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,387,734 (GRCm39) |
S396P |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,348 (GRCm39) |
V1541A |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,846,681 (GRCm39) |
K295* |
probably null |
Het |
| Frem3 |
T |
A |
8: 81,395,978 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,302 (GRCm39) |
T189M |
possibly damaging |
Het |
| Gucy2g |
C |
T |
19: 55,229,379 (GRCm39) |
C97Y |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,261 (GRCm39) |
K225M |
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,260 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,252,986 (GRCm39) |
I391T |
probably damaging |
Het |
| Lce1e |
T |
A |
3: 92,615,056 (GRCm39) |
H97L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,650,537 (GRCm39) |
R399G |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,872,939 (GRCm39) |
S1951I |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,159,686 (GRCm39) |
P648S |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,279 (GRCm39) |
F410L |
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,444,441 (GRCm39) |
R223G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,043,905 (GRCm39) |
E19K |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,727 (GRCm39) |
S9P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,192,566 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
T |
C |
1: 74,780,334 (GRCm39) |
I444V |
probably benign |
Het |
| Rsph10b |
T |
G |
5: 143,916,710 (GRCm39) |
V310G |
possibly damaging |
Het |
| Tmem225 |
T |
C |
9: 40,061,097 (GRCm39) |
Y135H |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,046,550 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
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 |
|
|
R1269:Wfikkn2
|
UTSW |
11 |
94,129,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TGTTACCGTTGCCCTCACAG -3'
(R):5'- AAATGTCGCTGGTGTCCTGAG -3'
Sequencing Primer
(F):5'- CCGCCATAGACGAAGGACTG -3'
(R):5'- TGTCCTGAGGGCTGACTTCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation