Incidental Mutation 'IGL01896:Wfdc8'
| ID |
179391 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wfdc8
|
| Ensembl Gene |
ENSMUSG00000070533 |
| Gene Name |
WAP four-disulfide core domain 8 |
| Synonyms |
LOC277343 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164438378-164455545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 164447700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 120
(M120K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094351]
[ENSMUST00000109338]
[ENSMUST00000109339]
|
| AlphaFold |
Q4KUS1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083863
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094351
AA Change: M120K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: M120K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
WAP
|
79 |
123 |
1.88e-2 |
SMART |
|
KU
|
125 |
178 |
8.81e-25 |
SMART |
|
WAP
|
182 |
226 |
8.82e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109338
AA Change: M120K
PolyPhen 2
Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: M120K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
WAP
|
79 |
123 |
1.88e-2 |
SMART |
|
KU
|
125 |
178 |
8.81e-25 |
SMART |
|
WAP
|
182 |
226 |
8.82e-6 |
SMART |
|
WAP
|
229 |
272 |
1.84e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109339
AA Change: M120K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: M120K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
WAP
|
79 |
123 |
1.88e-2 |
SMART |
|
KU
|
125 |
178 |
8.81e-25 |
SMART |
|
WAP
|
182 |
226 |
8.82e-6 |
SMART |
|
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
393 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,101,154 (GRCm39) |
F509Y |
possibly damaging |
Het |
| Acot11 |
T |
A |
4: 106,628,564 (GRCm39) |
I75F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,113,578 (GRCm39) |
N427Y |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,522 (GRCm39) |
D89G |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,721,438 (GRCm39) |
T378S |
possibly damaging |
Het |
| Cltc |
A |
T |
11: 86,615,959 (GRCm39) |
C436S |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,186,634 (GRCm39) |
V429M |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 66,021,492 (GRCm39) |
D311E |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,267,752 (GRCm39) |
K396R |
possibly damaging |
Het |
| Eif4b |
T |
C |
15: 102,003,721 (GRCm39) |
S597P |
probably benign |
Het |
| Ezh1 |
A |
T |
11: 101,104,581 (GRCm39) |
N155K |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,041,862 (GRCm39) |
S157G |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5600 |
T |
C |
7: 113,307,221 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
A |
3: 3,716,470 (GRCm39) |
V298E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,118,268 (GRCm39) |
R446Q |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,162 (GRCm39) |
I611V |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,921,360 (GRCm39) |
E524G |
probably benign |
Het |
| Mepe |
A |
G |
5: 104,486,135 (GRCm39) |
D425G |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,555,773 (GRCm39) |
V921L |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,815,408 (GRCm39) |
M470K |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,858,758 (GRCm39) |
Y222C |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,649,389 (GRCm39) |
N264S |
possibly damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,752,500 (GRCm39) |
D441G |
probably benign |
Het |
| Samd9l |
G |
T |
6: 3,375,120 (GRCm39) |
Q714K |
probably benign |
Het |
| Scrib |
T |
C |
15: 75,937,967 (GRCm39) |
E293G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,029,380 (GRCm39) |
N255K |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,703,050 (GRCm39) |
I141T |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,145,370 (GRCm39) |
L485P |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,522 (GRCm39) |
Y706N |
probably damaging |
Het |
| Tlr5 |
T |
C |
1: 182,802,444 (GRCm39) |
F583L |
possibly damaging |
Het |
| Tmprss15 |
A |
G |
16: 78,887,678 (GRCm39) |
V43A |
probably benign |
Het |
| Ttc24 |
T |
C |
3: 87,977,720 (GRCm39) |
|
probably null |
Het |
| Ttc7 |
A |
G |
17: 87,666,552 (GRCm39) |
T606A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,202,362 (GRCm39) |
P689T |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Wfdc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02012:Wfdc8
|
APN |
2 |
164,445,070 (GRCm39) |
splice site |
probably benign |
|
|
IGL02831:Wfdc8
|
APN |
2 |
164,447,685 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4131001:Wfdc8
|
UTSW |
2 |
164,439,696 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4520001:Wfdc8
|
UTSW |
2 |
164,445,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0006:Wfdc8
|
UTSW |
2 |
164,440,984 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0225:Wfdc8
|
UTSW |
2 |
164,439,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0603:Wfdc8
|
UTSW |
2 |
164,445,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Wfdc8
|
UTSW |
2 |
164,450,789 (GRCm39) |
unclassified |
probably benign |
|
|
R5484:Wfdc8
|
UTSW |
2 |
164,439,649 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5546:Wfdc8
|
UTSW |
2 |
164,439,239 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5614:Wfdc8
|
UTSW |
2 |
164,445,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Wfdc8
|
UTSW |
2 |
164,439,339 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6410:Wfdc8
|
UTSW |
2 |
164,439,663 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6869:Wfdc8
|
UTSW |
2 |
164,441,012 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7726:Wfdc8
|
UTSW |
2 |
164,441,906 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7770:Wfdc8
|
UTSW |
2 |
164,439,594 (GRCm39) |
missense |
unknown |
|
|
R8150:Wfdc8
|
UTSW |
2 |
164,439,455 (GRCm39) |
nonsense |
probably null |
|
|
R8424:Wfdc8
|
UTSW |
2 |
164,445,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8783:Wfdc8
|
UTSW |
2 |
164,447,769 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9094:Wfdc8
|
UTSW |
2 |
164,439,245 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation