Incidental Mutation 'R8205:Wfikkn1'
| ID |
635888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wfikkn1
|
| Ensembl Gene |
ENSMUSG00000071192 |
| Gene Name |
WAP, FS, Ig, KU, and NTR-containing protein 1 |
| Synonyms |
Gasp2 |
| MMRRC Submission |
067628-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.223)
|
| Stock # |
R8205 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
26096602-26099832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26097071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 418
(T418S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026826]
[ENSMUST00000026827]
[ENSMUST00000095487]
[ENSMUST00000110456]
[ENSMUST00000163356]
[ENSMUST00000166146]
[ENSMUST00000167626]
[ENSMUST00000169085]
[ENSMUST00000169308]
[ENSMUST00000176696]
[ENSMUST00000179998]
|
| AlphaFold |
Q8R0S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026826
|
| SMART Domains |
Protein: ENSMUSP00000026826
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.2e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.6e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.2e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026827
|
| SMART Domains |
Protein: ENSMUSP00000026827
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
203 |
7.4e-95 |
PFAM |
|
Pfam:Methyltransf_25
|
31 |
133 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095487
AA Change: T418S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093141
Gene: ENSMUSG00000071192
AA Change: T418S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
WAP
|
32 |
82 |
4.04e-3 |
SMART |
|
KAZAL
|
119 |
161 |
1.96e-2 |
SMART |
|
IGc2
|
202 |
274 |
2.54e-14 |
SMART |
|
KU
|
301 |
356 |
4.2e-3 |
SMART |
|
KU
|
361 |
414 |
1.82e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110456
|
| SMART Domains |
Protein: ENSMUSP00000106086
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
78 |
8.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163356
|
| SMART Domains |
Protein: ENSMUSP00000130209
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
172 |
1.6e-74 |
PFAM |
|
Pfam:Methyltransf_25
|
31 |
133 |
9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166146
|
| SMART Domains |
Protein: ENSMUSP00000132355
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d3raba_
|
10 |
43 |
3e-9 |
SMART |
|
Blast:RAB
|
15 |
49 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167626
|
| SMART Domains |
Protein: ENSMUSP00000127546
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.2e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.6e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.2e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169085
|
| SMART Domains |
Protein: ENSMUSP00000125990
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
65 |
6.5e-29 |
PFAM |
|
Pfam:DUF938
|
64 |
106 |
3.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169308
|
| SMART Domains |
Protein: ENSMUSP00000126198
Gene: ENSMUSG00000025731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF938
|
1 |
194 |
5.6e-86 |
PFAM |
|
Pfam:Methyltransf_25
|
31 |
133 |
4.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176696
|
| SMART Domains |
Protein: ENSMUSP00000135083
Gene: ENSMUSG00000071192
| Domain | Start | End | E-Value | Type |
|---|
|
WAP
|
2 |
48 |
8.8e-2 |
SMART |
|
KAZAL
|
85 |
127 |
1.96e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179998
|
| SMART Domains |
Protein: ENSMUSP00000136612
Gene: ENSMUSG00000025730
| Domain | Start | End | E-Value | Type |
|---|
|
RAB
|
15 |
177 |
9.4e-77 |
SMART |
|
SOCS
|
183 |
226 |
1.7e-18 |
SMART |
|
SOCS_box
|
189 |
225 |
7.3e-10 |
SMART |
|
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show partial penetrance of posteriorly directed homeotic transformations throughout the axial skeleton, 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
| Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
| Adgrd1 |
A |
G |
5: 129,192,175 (GRCm39) |
T114A |
possibly damaging |
Het |
| Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
| Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
| Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
| Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,664,047 (GRCm39) |
D617G |
probably benign |
Het |
| Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
| Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
| Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
| Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
| Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
| Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
| Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
| Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
| Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
| Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
| Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
| Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
| Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
| Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
| Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
| Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
| Rnf6 |
A |
G |
5: 146,147,714 (GRCm39) |
S435P |
probably damaging |
Het |
| Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
| Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
| Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
| Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
| Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
| Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
| Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
| Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
| Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
| Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
| Trim2 |
C |
A |
3: 84,100,646 (GRCm39) |
A162S |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,356,919 (GRCm39) |
D391E |
possibly damaging |
Het |
| Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
probably damaging |
Het |
|
| Other mutations in Wfikkn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0731:Wfikkn1
|
UTSW |
17 |
26,096,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1484:Wfikkn1
|
UTSW |
17 |
26,096,765 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1545:Wfikkn1
|
UTSW |
17 |
26,097,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Wfikkn1
|
UTSW |
17 |
26,097,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Wfikkn1
|
UTSW |
17 |
26,097,367 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5553:Wfikkn1
|
UTSW |
17 |
26,097,468 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5938:Wfikkn1
|
UTSW |
17 |
26,097,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6465:Wfikkn1
|
UTSW |
17 |
26,097,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Wfikkn1
|
UTSW |
17 |
26,097,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Wfikkn1
|
UTSW |
17 |
26,097,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Wfikkn1
|
UTSW |
17 |
26,097,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAACTTGAGGCCCATCTTGTC -3'
(R):5'- GGGCTTTGAGACCTATGAGG -3'
Sequencing Primer
(F):5'- CGTCCTTTAGCACATCATCCAAGG -3'
(R):5'- CTTTGAGACCTATGAGGCATGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation