Incidental Mutation 'R8150:Wfdc8'
| ID |
632895 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wfdc8
|
| Ensembl Gene |
ENSMUSG00000070533 |
| Gene Name |
WAP four-disulfide core domain 8 |
| Synonyms |
LOC277343 |
| MMRRC Submission |
067576-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
164438378-164455545 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 164439455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 309
(L309*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094351]
[ENSMUST00000103100]
[ENSMUST00000109338]
[ENSMUST00000109339]
|
| AlphaFold |
Q4KUS1 |
| 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 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 null
Transcript: ENSMUST00000109339
AA Change: L309*
|
| SMART Domains |
Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: L309*
| 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: 99.8%
- 3x: 99.5%
- 10x: 98.5%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
A |
2: 19,538,635 (GRCm39) |
M129L |
probably benign |
Het |
| Aadacl2fm1 |
A |
G |
3: 59,843,558 (GRCm39) |
D84G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,337,393 (GRCm39) |
I2416T |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,615,522 (GRCm39) |
D871G |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,011,982 (GRCm39) |
T895I |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,444 (GRCm39) |
E390G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,741,162 (GRCm39) |
D1574V |
|
Het |
| Blmh |
T |
C |
11: 76,859,455 (GRCm39) |
V352A |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,259,540 (GRCm39) |
L1270P |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,947,792 (GRCm39) |
H923Q |
probably damaging |
Het |
| Cdc27 |
G |
A |
11: 104,406,286 (GRCm39) |
H610Y |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,101,791 (GRCm39) |
I248V |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,254,510 (GRCm39) |
H201Y |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,007,152 (GRCm39) |
T292A |
probably damaging |
Het |
| Gli2 |
G |
A |
1: 118,763,558 (GRCm39) |
T1531I |
probably damaging |
Het |
| Gm6871 |
T |
C |
7: 41,197,185 (GRCm39) |
T7A |
|
Het |
| Kank1 |
A |
G |
19: 25,388,163 (GRCm39) |
D612G |
possibly damaging |
Het |
| Lhcgr |
AT |
ATT |
17: 89,049,677 (GRCm39) |
615 |
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,747,800 (GRCm39) |
D355V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,712,846 (GRCm39) |
K1710E |
probably benign |
Het |
| Or13d1 |
C |
G |
4: 52,970,788 (GRCm39) |
H56D |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,119,459 (GRCm39) |
D71G |
probably damaging |
Het |
| Pcdha8 |
G |
A |
18: 37,126,264 (GRCm39) |
V249M |
probably damaging |
Het |
| Pglyrp3 |
A |
G |
3: 91,933,790 (GRCm39) |
D145G |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,055 (GRCm39) |
K2521E |
possibly damaging |
Het |
| Pld3 |
A |
G |
7: 27,232,086 (GRCm39) |
V398A |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,941,146 (GRCm39) |
T1642S |
probably damaging |
Het |
| Ppp2r1a |
T |
G |
17: 21,179,700 (GRCm39) |
V348G |
possibly damaging |
Het |
| Prdm2 |
C |
A |
4: 142,859,303 (GRCm39) |
C1329F |
possibly damaging |
Het |
| Ric8a |
G |
T |
7: 140,441,269 (GRCm39) |
G423V |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,658,593 (GRCm39) |
D94G |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,185,769 (GRCm39) |
F325L |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,034,568 (GRCm39) |
V1247E |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,087 (GRCm39) |
M165I |
probably benign |
Het |
| Slc19a3 |
T |
G |
1: 83,000,216 (GRCm39) |
Y267S |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,887,390 (GRCm39) |
F196Y |
possibly damaging |
Het |
| Slc5a4b |
A |
T |
10: 75,939,680 (GRCm39) |
I152N |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,982,519 (GRCm39) |
V768E |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,063,534 (GRCm39) |
M988K |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,393,291 (GRCm38) |
F317I |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp949 |
C |
T |
9: 88,452,053 (GRCm39) |
T541I |
probably benign |
Het |
| Zkscan16 |
T |
A |
4: 58,952,407 (GRCm39) |
I235N |
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 |
|
|
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 |
|
|
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'- CAATGTGCATCTGGTCCACG -3'
(R):5'- TGATAGACAAGAGAGACCCTTTCATC -3'
Sequencing Primer
(F):5'- CATCTGGTCCACGGGTGTG -3'
(R):5'- GACAAGAGAGACCCTTTCATCTTTTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation