Incidental Mutation 'R6842:Wfikkn2'
| ID |
533917 |
| 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 |
| MMRRC Submission |
044948-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94126782-94136831 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94128866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 425
(E425G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061469]
|
| AlphaFold |
Q7TQN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061469
AA Change: E425G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000053238
Gene: ENSMUSG00000044177
AA Change: E425G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,432 (GRCm39) |
N69S |
probably benign |
Het |
| Adgrl3 |
C |
T |
5: 81,888,927 (GRCm39) |
A1042V |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,807,416 (GRCm39) |
V660A |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,604,461 (GRCm39) |
H395L |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,358,863 (GRCm39) |
I307T |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,800,101 (GRCm39) |
S381P |
probably damaging |
Het |
| Cbfa2t2 |
A |
G |
2: 154,365,965 (GRCm39) |
T392A |
probably benign |
Het |
| Ccdc127 |
T |
C |
13: 74,505,088 (GRCm39) |
I212T |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,132,979 (GRCm39) |
V91A |
probably benign |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,402,952 (GRCm39) |
F2347L |
possibly damaging |
Het |
| Ddx19a |
A |
G |
8: 111,705,257 (GRCm39) |
V288A |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,930,928 (GRCm39) |
E53G |
probably damaging |
Het |
| Fbxw26 |
A |
T |
9: 109,553,988 (GRCm39) |
I217N |
probably damaging |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,536 (GRCm39) |
|
probably null |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,275 (GRCm39) |
I6N |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,781 (GRCm39) |
L128P |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,563 (GRCm39) |
S24F |
probably benign |
Het |
| Mme |
T |
A |
3: 63,269,465 (GRCm39) |
D591E |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,384,888 (GRCm39) |
I254F |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,085,866 (GRCm39) |
M5V |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,175,481 (GRCm39) |
D312G |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,107,917 (GRCm39) |
Y709H |
possibly damaging |
Het |
| Oas1g |
T |
C |
5: 121,025,621 (GRCm39) |
E2G |
probably benign |
Het |
| Ocm |
T |
A |
5: 143,962,509 (GRCm39) |
I6F |
unknown |
Het |
| Odad2 |
C |
T |
18: 7,268,401 (GRCm39) |
D373N |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,576 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2ag12 |
T |
C |
7: 106,277,093 (GRCm39) |
Y200C |
probably damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,885 (GRCm39) |
N230S |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,549 (GRCm39) |
L106P |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,215,640 (GRCm39) |
D419G |
probably benign |
Het |
| Plbd1 |
T |
A |
6: 136,612,612 (GRCm39) |
I194F |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,074,940 (GRCm39) |
C47S |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,868 (GRCm39) |
S534P |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,968,979 (GRCm39) |
V452A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,467,320 (GRCm39) |
V1177A |
probably benign |
Het |
| Tgfbr1 |
T |
C |
4: 47,383,757 (GRCm39) |
C32R |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,983 (GRCm39) |
N801S |
probably benign |
Het |
| Utp6 |
C |
T |
11: 79,831,775 (GRCm39) |
S504N |
probably benign |
Het |
| Wdsub1 |
A |
C |
2: 59,708,532 (GRCm39) |
S114A |
probably benign |
Het |
| Zfp956 |
C |
T |
6: 47,940,763 (GRCm39) |
T374I |
possibly 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 |
|
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 |
|
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'- CATCTTTTAAGACCTCATCCACGG -3'
(R):5'- TGGTCACTGCCACCACAATC -3'
Sequencing Primer
(F):5'- TCATCCACGGTCACCAGG -3'
(R):5'- TGAGACCTACGAGGCCTGTATG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation