Mutagenetix > Incidental Mutation

Incidental Mutation 'R8424:Wfdc8'

653339

Institutional Source

Beutler Lab

Gene Symbol

Wfdc8

Ensembl Gene

ENSMUSG00000070533

Gene Name

WAP four-disulfide core domain 8

Synonyms

LOC277343

MMRRC Submission

067818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8424 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

164438378-164455545 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164445078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 179 (F179S)

Ref Sequence

ENSEMBL: ENSMUSP00000104963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]

AlphaFold

Q4KUS1

Predicted Effect

probably benign
Transcript: ENSMUST00000094351
AA Change: F179S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: F179S

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: F179S

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: F179S

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: F179S

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: F179S

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: 99.7%
20x: 98.9%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	C	T	7: 78,946,885 (GRCm39)	P42S	probably damaging	Het
Acss2	A	G	2: 155,416,538 (GRCm39)	T694A	unknown	Het
Adar	C	T	3: 89,643,301 (GRCm39)	P394L	probably damaging	Het
Alx4	A	G	2: 93,507,814 (GRCm39)	M370V	probably benign	Het
Bag6	T	A	17: 35,365,830 (GRCm39)	L1089Q	probably damaging	Het
Bms1	T	C	6: 118,365,721 (GRCm39)	Y1155C	probably benign	Het
Cbl	G	A	9: 44,064,151 (GRCm39)	T795I	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cdc5l	C	A	17: 45,726,526 (GRCm39)	A349S	probably benign	Het
Cdh5	G	A	8: 104,856,003 (GRCm39)	R312H	probably benign	Het
Cdk5rap1	T	C	2: 154,187,932 (GRCm39)	T465A	probably damaging	Het
Cep135	C	T	5: 76,741,906 (GRCm39)	T114I	possibly damaging	Het
Csrp1	T	C	1: 135,667,188 (GRCm39)	V17A	probably damaging	Het
Cutal	T	C	2: 34,777,804 (GRCm39)	S105P	probably benign	Het
Dgki	C	A	6: 36,827,850 (GRCm39)	V1016L	probably benign	Het
Dnmt1	T	C	9: 20,829,836 (GRCm39)	N746S	probably benign	Het
Ep400	A	T	5: 110,841,144 (GRCm39)	V1796E	unknown	Het
Fam83a	T	A	15: 57,873,046 (GRCm39)	S292T	possibly damaging	Het
H2ac4	A	G	13: 23,935,267 (GRCm39)	Y51C	probably damaging	Het
Keap1	C	A	9: 21,142,086 (GRCm39)	R596L	probably benign	Het
Klhl5	A	C	5: 65,320,305 (GRCm39)	T620P	probably benign	Het
Lbhd1	T	A	19: 8,861,341 (GRCm39)	D16E	possibly damaging	Het
Nadk2	T	C	15: 9,083,414 (GRCm39)	V110A	possibly damaging	Het
Ncbp1	A	T	4: 46,144,839 (GRCm39)	H30L	probably benign	Het
Or5ac21	A	T	16: 59,123,772 (GRCm39)	L85F	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pmp22	G	T	11: 63,023,902 (GRCm39)		probably benign	Het
Rc3h1	C	T	1: 160,793,342 (GRCm39)	L1076F	probably damaging	Het
Ryr3	T	C	2: 112,672,239 (GRCm39)	I1431V	possibly damaging	Het
S100a7a	T	A	3: 90,562,868 (GRCm39)	H18Q	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Serpina1c	T	C	12: 103,862,296 (GRCm39)	T340A	possibly damaging	Het
Setd5	A	G	6: 113,126,644 (GRCm39)	E1227G	probably benign	Het
Sh3yl1	G	A	12: 30,974,862 (GRCm39)	R71H	probably damaging	Het
Spry2	A	G	14: 106,130,836 (GRCm39)	S117P	probably damaging	Het
Srcap	T	C	7: 127,141,560 (GRCm39)	V1780A	probably benign	Het
Sting1	A	C	18: 35,872,223 (GRCm39)	I93S	probably benign	Het
Tas2r130	T	G	6: 131,607,790 (GRCm39)	T2P	probably benign	Het
Tiam2	T	A	17: 3,566,316 (GRCm39)	F1454I	probably damaging	Het
Tiam2	T	C	17: 3,566,317 (GRCm39)	F1454S	probably damaging	Het
Tnpo3	A	G	6: 29,555,205 (GRCm39)	S793P	probably benign	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Ubap2l	A	T	3: 89,928,338 (GRCm39)	D535E	probably damaging	Het
Ube2h	A	G	6: 30,260,940 (GRCm39)	S65P	probably damaging	Het
Vmn1r203	T	C	13: 22,709,004 (GRCm39)	S262P	probably damaging	Het
Wnk1	T	C	6: 119,911,388 (GRCm39)	T2153A	unknown	Het
Zfhx3	G	T	8: 109,583,385 (GRCm39)	G1084V	probably damaging	Het
Zfp273	A	G	13: 67,970,471 (GRCm39)	N40D	probably benign	Het
Zfp352	C	T	4: 90,112,480 (GRCm39)	P207S	possibly damaging	Het
Zfp952	T	A	17: 33,222,191 (GRCm39)	F223L	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
R8150:Wfdc8	UTSW	2	164,439,455 (GRCm39)	nonsense	probably null
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'- AAGGCTTGCCAAAGTGAATG -3'
(R):5'- TTACCTCAGAGCCCTGCATG -3'

Sequencing Primer
(F):5'- TAGCTTAGTTTCCAGTCACAGCAAC -3'
(R):5'- TCAGAGCCCTGCATGCTACC -3'

Posted On

2020-10-20