Incidental Mutation 'R6410:Wfdc8'
ID |
514570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wfdc8
|
Ensembl Gene |
ENSMUSG00000070533 |
Gene Name |
WAP four-disulfide core domain 8 |
Synonyms |
LOC277343 |
MMRRC Submission |
044383-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6410 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
164438378-164455545 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 164439663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 240
(I240F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094351]
[ENSMUST00000103100]
[ENSMUST00000109338]
[ENSMUST00000109339]
|
AlphaFold |
Q4KUS1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083863
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094351
AA Change: I240F
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000091911 Gene: ENSMUSG00000070533 AA Change: I240F
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 benign
Transcript: ENSMUST00000103100
|
SMART Domains |
Protein: ENSMUSP00000099389 Gene: ENSMUSG00000017733
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
WAP
|
32 |
73 |
3.09e-3 |
SMART |
KU
|
75 |
128 |
1.05e-22 |
SMART |
|
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000109339
AA Change: I240F
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104963 Gene: ENSMUSG00000070533 AA Change: I240F
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
C |
T |
4: 132,790,210 (GRCm39) |
R484W |
probably damaging |
Het |
Arhgap24 |
T |
A |
5: 103,040,017 (GRCm39) |
I411N |
probably benign |
Het |
Armt1 |
A |
G |
10: 4,403,826 (GRCm39) |
S304G |
probably benign |
Het |
Atg9b |
T |
A |
5: 24,591,108 (GRCm39) |
N774I |
possibly damaging |
Het |
C1s1 |
C |
T |
6: 124,508,117 (GRCm39) |
C624Y |
probably damaging |
Het |
Camsap2 |
C |
A |
1: 136,273,182 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,564,798 (GRCm39) |
S248P |
probably benign |
Het |
Cd28 |
A |
T |
1: 60,804,442 (GRCm39) |
H140L |
probably benign |
Het |
Csmd3 |
G |
A |
15: 48,536,803 (GRCm39) |
T133I |
probably damaging |
Het |
D430041D05Rik |
A |
T |
2: 103,998,548 (GRCm39) |
|
probably null |
Het |
Defb47 |
T |
C |
14: 63,238,442 (GRCm39) |
V56A |
probably benign |
Het |
Fxyd5 |
T |
C |
7: 30,734,831 (GRCm39) |
E132G |
probably damaging |
Het |
H2-M2 |
A |
G |
17: 37,794,104 (GRCm39) |
V40A |
probably damaging |
Het |
H2-Q7 |
T |
C |
17: 35,659,152 (GRCm39) |
L201P |
probably benign |
Het |
Klra9 |
T |
G |
6: 130,155,957 (GRCm39) |
D266A |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,565,860 (GRCm39) |
N492S |
probably benign |
Het |
Nmt2 |
A |
G |
2: 3,317,215 (GRCm39) |
E341G |
probably damaging |
Het |
Nutm1 |
A |
C |
2: 112,079,074 (GRCm39) |
V947G |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,764,484 (GRCm39) |
|
probably null |
Het |
Or7e177 |
T |
A |
9: 20,211,748 (GRCm39) |
I84N |
probably damaging |
Het |
Pm20d1 |
G |
A |
1: 131,726,334 (GRCm39) |
G57D |
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,004,880 (GRCm39) |
I157T |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Sv2b |
A |
T |
7: 74,789,857 (GRCm39) |
I392N |
probably benign |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCCATGGTGACCAGTGAG -3'
(R):5'- GTCTATATGGCAAGATCCAGGC -3'
Sequencing Primer
(F):5'- ATGGTGACCAGTGAGTCCCG -3'
(R):5'- CAGGCCAGCTAGCGATACATAATG -3'
|
Posted On |
2018-05-04 |