Incidental Mutation 'R0006:Wfdc8'
| ID |
19160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wfdc8
|
| Ensembl Gene |
ENSMUSG00000070533 |
| Gene Name |
WAP four-disulfide core domain 8 |
| Synonyms |
LOC277343 |
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164438378-164455545 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164440984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 253
(D253G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104962
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094351]
[ENSMUST00000109338]
[ENSMUST00000109339]
|
| AlphaFold |
Q4KUS1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083863
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000109338
AA Change: D253G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: D253G
| 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 benign
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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 77.9%
- 3x: 66.3%
- 10x: 36.9%
- 20x: 17.4%
|
| Validation Efficiency |
95% (74/78) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,384,099 (GRCm39) |
E140G |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Slc7a9 |
A |
T |
7: 35,169,525 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,841,861 (GRCm39) |
|
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably 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 |
|
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation