Mutagenetix > Incidental Mutation

Incidental Mutation 'R5614:Wfdc8'

438125

Institutional Source

Beutler Lab

Gene Symbol

Wfdc8

Ensembl Gene

ENSMUSG00000070533

Gene Name

WAP four-disulfide core domain 8

Synonyms

LOC277343

MMRRC Submission

043275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

164438378-164455545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 164445123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 164 (A164E)

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

possibly damaging
Transcript: ENSMUST00000094351
AA Change: A164E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: A164E

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: ENSMUST00000109338
AA Change: A164E

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: A164E

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: A164E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: A164E

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (62/62)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,132 (GRCm39)	V1712A	probably damaging	Het
Ankmy2	T	C	12: 36,243,783 (GRCm39)	S333P	probably damaging	Het
Arfrp1	A	G	2: 181,001,236 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,719,493 (GRCm39)	T21A	probably benign	Het
Bud23	C	A	5: 135,087,966 (GRCm39)	A152S	probably benign	Het
Cant1	T	C	11: 118,299,569 (GRCm39)	D260G	probably benign	Het
Ces1b	T	C	8: 93,794,836 (GRCm39)	I254M	probably benign	Het
Ces1d	T	C	8: 93,902,832 (GRCm39)	T375A	probably benign	Het
Cfap54	A	G	10: 92,880,911 (GRCm39)	L384P	probably damaging	Het
Chrne	C	T	11: 70,505,879 (GRCm39)	V469I	possibly damaging	Het
Clspn	A	G	4: 126,474,755 (GRCm39)	E968G	probably damaging	Het
Col5a3	A	G	9: 20,694,772 (GRCm39)		probably benign	Het
Dtx4	T	C	19: 12,459,547 (GRCm39)	Y419C	probably damaging	Het
Fam171b	T	A	2: 83,643,217 (GRCm39)	I42N	probably damaging	Het
Fam43a	T	C	16: 30,420,490 (GRCm39)	I358T	possibly damaging	Het
Fasn	T	C	11: 120,704,154 (GRCm39)	S1422G	probably benign	Het
Fig4	A	T	10: 41,148,981 (GRCm39)	V157E	probably damaging	Het
Fus	T	C	7: 127,573,543 (GRCm39)		probably benign	Het
Hmcn2	G	T	2: 31,318,315 (GRCm39)	V3887F	probably damaging	Het
Hmgcll1	A	G	9: 75,988,675 (GRCm39)	Y182C	probably damaging	Het
Hook2	T	A	8: 85,729,137 (GRCm39)	I585N	probably damaging	Het
Iars2	T	C	1: 185,021,705 (GRCm39)	T866A	probably benign	Het
Iqca1l	G	A	5: 24,755,140 (GRCm39)	A330V	probably benign	Het
Lrit1	T	A	14: 36,783,911 (GRCm39)	M413K	probably benign	Het
Myl9	G	A	2: 156,623,083 (GRCm39)		probably benign	Het
Nelfa	A	T	5: 34,077,844 (GRCm39)	L179Q	probably damaging	Het
Nod2	A	T	8: 89,390,824 (GRCm39)	D355V	probably damaging	Het
Npbwr1	A	T	1: 5,987,030 (GRCm39)	S161R	probably damaging	Het
Nxpe2	A	T	9: 48,234,401 (GRCm39)	F289I	probably benign	Het
Odf2	A	G	2: 29,810,879 (GRCm39)	I538M	probably damaging	Het
Osbpl6	T	A	2: 76,398,453 (GRCm39)	V379E	probably damaging	Het
Pkhd1	A	G	1: 20,143,750 (GRCm39)	C3859R	possibly damaging	Het
Rgs1	G	T	1: 144,121,995 (GRCm39)	T99N	probably benign	Het
Rnf6	T	C	5: 146,154,910 (GRCm39)		probably null	Het
Rtp1	C	A	16: 23,249,940 (GRCm39)	Q102K	possibly damaging	Het
Sec24c	T	A	14: 20,732,806 (GRCm39)	V123E	possibly damaging	Het
Serpini2	T	C	3: 75,165,014 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,636,638 (GRCm39)		probably benign	Het
Tecta	A	G	9: 42,250,351 (GRCm39)	S1809P	probably damaging	Het
Tgfb2	T	A	1: 186,357,710 (GRCm39)	I394F	probably benign	Het
Thg1l	T	C	11: 45,841,054 (GRCm39)	Y175C	possibly damaging	Het
Tmem67	C	A	4: 12,061,755 (GRCm39)	K572N	possibly damaging	Het
Tollip	T	C	7: 141,445,825 (GRCm39)	T19A	probably damaging	Het
Ttn	A	G	2: 76,542,451 (GRCm39)	Y25185H	probably damaging	Het
Vgll2	A	T	10: 51,901,318 (GRCm39)	R83*	probably null	Het
Ylpm1	T	C	12: 85,111,718 (GRCm39)		probably benign	Het
Zfp326	T	A	5: 106,036,361 (GRCm39)	S91T	probably damaging	Het
Zfp638	T	C	6: 83,906,623 (GRCm39)	F263L	probably damaging	Het
Zfp800	G	A	6: 28,243,135 (GRCm39)	T610I	probably damaging	Het
Zmym4	A	G	4: 126,804,729 (GRCm39)	F475L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTGCCAAAGTGAATGGG -3'
(R):5'- TTGTGGCTAGGAACCTGACC -3'

Sequencing Primer
(F):5'- GCCTCTCAAGCAGCAATGGTAG -3'
(R):5'- TGGCTAGGAACCTGACCTCCTC -3'

Posted On

2016-10-26