Incidental Mutation 'IGL02831:Wfdc8'
| ID |
361456 |
| 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 # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164438378-164455545 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 164447685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094351]
[ENSMUST00000094351]
[ENSMUST00000109338]
[ENSMUST00000109338]
[ENSMUST00000109339]
[ENSMUST00000109339]
|
| AlphaFold |
Q4KUS1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083863
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094351
|
| SMART Domains |
Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
| 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 |
probably null
Transcript: ENSMUST00000094351
|
| SMART Domains |
Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
| 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 |
probably null
Transcript: ENSMUST00000109338
|
| SMART Domains |
Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
| 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 null
Transcript: ENSMUST00000109338
|
| SMART Domains |
Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
| 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 null
Transcript: ENSMUST00000109339
|
| SMART Domains |
Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109339
|
| SMART Domains |
Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
|
| Other mutations in Wfdc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01896:Wfdc8
|
APN |
2 |
164,447,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02012:Wfdc8
|
APN |
2 |
164,445,070 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation