Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02012:Wfdc8'

183411

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) question?

Stock #

IGL02012

Quality Score

Status

Chromosome

Chromosomal Location

164438378-164455545 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 164445070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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: 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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,651,820 (GRCm39)	N1296S	probably damaging	Het
Adprh	A	T	16: 38,266,214 (GRCm39)	D309E	possibly damaging	Het
Armc1	A	T	3: 19,211,701 (GRCm39)	C40S	possibly damaging	Het
Cops8	T	C	1: 90,539,956 (GRCm39)	V204A	probably damaging	Het
Cstdc5	T	G	16: 36,187,802 (GRCm39)	D21A	possibly damaging	Het
Dchs1	T	G	7: 105,413,504 (GRCm39)	T1104P	probably damaging	Het
Ddi2	A	T	4: 141,435,529 (GRCm39)		probably null	Het
Ehbp1	G	A	11: 22,051,218 (GRCm39)	P420S	probably damaging	Het
Eif1ad	T	G	19: 5,418,687 (GRCm39)	V80G	probably damaging	Het
Fat1	T	C	8: 45,480,577 (GRCm39)	Y3004H	possibly damaging	Het
Fbxo11	C	T	17: 88,320,079 (GRCm39)	R211Q	probably benign	Het
Foxf2	A	G	13: 31,810,499 (GRCm39)	N146S	probably damaging	Het
Fsd2	A	T	7: 81,199,662 (GRCm39)	N334K	probably benign	Het
Gm45234	C	A	6: 124,723,011 (GRCm39)		probably benign	Het
Itpr3	T	A	17: 27,323,069 (GRCm39)	F1157I	probably benign	Het
Jph1	C	A	1: 17,167,638 (GRCm39)	W64L	probably benign	Het
Lmo7	T	C	14: 102,126,152 (GRCm39)		probably benign	Het
Man2a1	T	C	17: 64,973,894 (GRCm39)	I390T	probably damaging	Het
Marveld3	C	T	8: 110,674,764 (GRCm39)	V351M	probably damaging	Het
Minar1	T	C	9: 89,483,491 (GRCm39)	I635M	probably benign	Het
Mycn	A	G	12: 12,987,104 (GRCm39)	L431P	probably damaging	Het
Naip5	T	C	13: 100,359,847 (GRCm39)	N463S	probably benign	Het
Npnt	A	G	3: 132,614,158 (GRCm39)	C182R	probably damaging	Het
Obscn	A	G	11: 58,967,333 (GRCm39)	V3068A	probably benign	Het
Pggt1b	A	T	18: 46,396,022 (GRCm39)	S88T	probably benign	Het
Prx	A	G	7: 27,217,326 (GRCm39)	E748G	probably damaging	Het
Scrn3	T	C	2: 73,148,773 (GRCm39)		probably null	Het
Trmt10b	G	A	4: 45,315,045 (GRCm39)	R292H	probably benign	Het
Tuft1	A	G	3: 94,529,462 (GRCm39)		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
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
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

2014-05-07