Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Wfdc8'

595476

Institutional Source

Beutler Lab

Gene Symbol

Wfdc8

Ensembl Gene

ENSMUSG00000070533

Gene Name

WAP four-disulfide core domain 8

Synonyms

LOC277343

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164596458-164613626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 164599986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 215 (E215D)

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: E215D

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091911
Gene: ENSMUSG00000070533
AA Change: E215D

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: E215D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104962
Gene: ENSMUSG00000070533
AA Change: E215D

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

possibly damaging
Transcript: ENSMUST00000109339
AA Change: E215D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104963
Gene: ENSMUSG00000070533
AA Change: E215D

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,684,498	A534S	probably benign	Het
A230050P20Rik	T	C	9: 20,873,165	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598	D326Y	probably damaging	Het
Atp6v1e2	G	A	17: 86,944,385	T195I	probably damaging	Het
Atrnl1	A	G	19: 57,702,072	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190		probably null	Het
Cpne8	A	T	15: 90,501,418	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833	*494W	probably null	Het
Exph5	G	A	9: 53,373,175	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428	Y306*	probably null	Het
Manba	C	T	3: 135,518,009	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795		probably null	Het
Med15	T	G	16: 17,655,174	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282		probably null	Het
Mettl11b	A	G	1: 163,703,184	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320		probably null	Het
Myh6	G	T	14: 54,965,365	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003		probably null	Het
Pcdhgc3	T	C	18: 37,806,879	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367		probably null	Het
Sirpb1c	T	A	3: 15,848,386	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226	M1R	probably null	Het
Stub1	A	T	17: 25,831,132	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518	C253*	probably null	Het
Zfp874b	T	C	13: 67,473,856	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242	P36Q	possibly damaging	Het

Other mutations in Wfdc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01896:Wfdc8	APN	2	164605780	missense	probably damaging	1.00
IGL02012:Wfdc8	APN	2	164603150	splice site	probably benign
IGL02831:Wfdc8	APN	2	164605765	critical splice donor site	probably null
PIT4131001:Wfdc8	UTSW	2	164597776	missense	possibly damaging	0.94
PIT4520001:Wfdc8	UTSW	2	164603303	missense	probably benign	0.09
R0006:Wfdc8	UTSW	2	164599064	missense	probably damaging	0.96
R0225:Wfdc8	UTSW	2	164597185	missense	probably benign	0.04
R0603:Wfdc8	UTSW	2	164603225	missense	probably damaging	1.00
R1741:Wfdc8	UTSW	2	164608869	unclassified	probably benign
R5484:Wfdc8	UTSW	2	164597729	missense	probably benign	0.11
R5546:Wfdc8	UTSW	2	164597319	utr 3 prime	probably benign
R5614:Wfdc8	UTSW	2	164603203	missense	probably damaging	1.00
R5668:Wfdc8	UTSW	2	164597419	utr 3 prime	probably benign
R6410:Wfdc8	UTSW	2	164597743	missense	probably benign	0.10
R6869:Wfdc8	UTSW	2	164599092	missense	possibly damaging	0.82
R7770:Wfdc8	UTSW	2	164597674	missense	unknown
R8150:Wfdc8	UTSW	2	164597535	nonsense	probably null
R8424:Wfdc8	UTSW	2	164603158	missense	probably benign	0.03
R8783:Wfdc8	UTSW	2	164605849	missense	probably benign	0.41
R9094:Wfdc8	UTSW	2	164597325	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGGACTTCTTCACCTCTCAG -3'
(R):5'- CCCTGAGGAGAAGAGCTTTC -3'

Sequencing Primer
(F):5'- TCTATAGTGAGATCTAGACCAGGC -3'
(R):5'- CCCTGAGGAGAAGAGCTTTCTGAAG -3'

Posted On

2019-11-12