Mutagenetix > Incidental Mutation

Incidental Mutation 'R1796:Wfdc6a'

202224

Institutional Source

Beutler Lab

Gene Symbol

Wfdc6a

Ensembl Gene

ENSMUSG00000074595

Gene Name

WAP four-disulfide core domain 6A

Synonyms

MMRRC Submission

039826-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.044) question?

Stock #

R1796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164421439-164427367 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164422231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 123 (C123S)

Ref Sequence

ENSEMBL: ENSMUSP00000104966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099096] [ENSMUST00000109342]

AlphaFold

Q3UW55

Predicted Effect

probably damaging
Transcript: ENSMUST00000099096
AA Change: C123S

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

SMART Domains

Protein: ENSMUSP00000096694
Gene: ENSMUSG00000074595
AA Change: C123S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
WAP	32	73	6.23e-2	SMART
KU	75	128	1.49e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109342
AA Change: C123S

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

SMART Domains

Protein: ENSMUSP00000104966
Gene: ENSMUSG00000074595
AA Change: C123S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
WAP	32	73	6.23e-2	SMART
KU	75	128	1.49e-22	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,662,156 (GRCm39)	S30F	probably benign	Het
Abtb1	T	C	6: 88,813,601 (GRCm39)	D379G	possibly damaging	Het
Adgre1	A	G	17: 57,748,350 (GRCm39)	I517V	probably benign	Het
Ajm1	C	T	2: 25,468,000 (GRCm39)	G637D	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Angpt4	G	A	2: 151,780,909 (GRCm39)	V386M	probably damaging	Het
Asic1	A	G	15: 99,594,535 (GRCm39)	H360R	probably null	Het
Asxl1	G	A	2: 153,243,526 (GRCm39)	A1359T	probably benign	Het
Atp8a2	C	T	14: 60,258,207 (GRCm39)		probably null	Het
Bltp3a	T	C	17: 28,109,045 (GRCm39)	F1088S	possibly damaging	Het
C1qtnf2	T	A	11: 43,382,114 (GRCm39)	F279I	probably damaging	Het
Car8	A	T	4: 8,221,671 (GRCm39)	L100*	probably null	Het
Cd52	T	C	4: 133,822,295 (GRCm39)	M1V	probably null	Het
Celf5	T	C	10: 81,303,053 (GRCm39)	I163V	possibly damaging	Het
Cep250	A	T	2: 155,834,107 (GRCm39)	T2010S	possibly damaging	Het
Cfap65	C	T	1: 74,958,107 (GRCm39)	V934M	probably damaging	Het
Colec11	A	T	12: 28,644,858 (GRCm39)	I212N	probably damaging	Het
Cpa3	C	T	3: 20,277,391 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,445,553 (GRCm39)	H495N	probably damaging	Het
Cyb5a	T	C	18: 84,869,686 (GRCm39)	V28A	probably benign	Het
Ddo	A	T	10: 40,523,625 (GRCm39)	Q205L	probably benign	Het
Dnah1	T	A	14: 30,983,050 (GRCm39)	N4195I	probably benign	Het
E2f1	A	T	2: 154,402,849 (GRCm39)	V306E	probably benign	Het
Ece1	C	T	4: 137,685,312 (GRCm39)	R601W	probably damaging	Het
Eef1d	A	C	15: 75,773,024 (GRCm39)	F25C	probably damaging	Het
Ehd3	A	T	17: 74,137,354 (GRCm39)	I508F	probably damaging	Het
Eml6	T	A	11: 29,831,975 (GRCm39)	I232F	probably benign	Het
Enc1	T	A	13: 97,382,991 (GRCm39)	D500E	probably benign	Het
Enc1	C	A	13: 97,382,993 (GRCm39)	T501K	possibly damaging	Het
Fam83f	C	T	15: 80,574,283 (GRCm39)	R213W	possibly damaging	Het
Fbxo31	A	T	8: 122,287,177 (GRCm39)	L158*	probably null	Het
Fcgbpl1	C	T	7: 27,854,797 (GRCm39)	P1808S	probably damaging	Het
Foxi3	C	A	6: 70,937,794 (GRCm39)	T342N	possibly damaging	Het
Gpr179	T	A	11: 97,227,382 (GRCm39)	D1591V	possibly damaging	Het
Gpsm2	A	G	3: 108,609,166 (GRCm39)	V151A	probably damaging	Het
Grk2	T	G	19: 4,337,968 (GRCm39)	I513L	probably benign	Het
H2-Ab1	A	G	17: 34,486,346 (GRCm39)	E135G	probably damaging	Het
Herc1	A	T	9: 66,296,138 (GRCm39)	K578*	probably null	Het
Hycc1	T	G	5: 24,191,149 (GRCm39)	T173P	probably damaging	Het
Itpr2	T	C	6: 146,198,171 (GRCm39)	N1533S	probably benign	Het
Kif3c	A	G	12: 3,417,299 (GRCm39)	N440S	probably benign	Het
Klhdc2	T	C	12: 69,347,071 (GRCm39)		probably null	Het
Kmo	G	T	1: 175,465,461 (GRCm39)	V72L	probably benign	Het
Krt71	A	G	15: 101,651,315 (GRCm39)	I56T	possibly damaging	Het
Krt72	T	C	15: 101,689,987 (GRCm39)		probably null	Het
Krt78	T	A	15: 101,859,300 (GRCm39)	Q299L	probably damaging	Het
Loxhd1	C	T	18: 77,493,603 (GRCm39)	R1521C	probably damaging	Het
Loxhd1	G	A	18: 77,513,335 (GRCm39)	E1774K	possibly damaging	Het
Ly6g6f	T	C	17: 35,302,478 (GRCm39)	S20G	probably benign	Het
Mecr	T	A	4: 131,592,382 (GRCm39)	M282K	probably damaging	Het
Mfsd14a	G	T	3: 116,428,596 (GRCm39)	A353D	probably damaging	Het
Mroh9	A	T	1: 162,873,279 (GRCm39)	N564K	probably damaging	Het
Mrs2	T	A	13: 25,181,111 (GRCm39)	T237S	possibly damaging	Het
Mycbpap	A	G	11: 94,398,377 (GRCm39)	L534S	probably damaging	Het
Myh1	T	C	11: 67,115,183 (GRCm39)	I1906T	probably benign	Het
Myh4	T	A	11: 67,151,150 (GRCm39)	V1935D	probably benign	Het
Myo18a	T	C	11: 77,720,170 (GRCm39)	I684T	possibly damaging	Het
Myo7b	C	T	18: 32,119,728 (GRCm39)	R788H	possibly damaging	Het
Nbea	A	T	3: 55,551,129 (GRCm39)	D2678E	possibly damaging	Het
Ndufs3	A	C	2: 90,729,050 (GRCm39)	Y145*	probably null	Het
Nrros	A	G	16: 31,962,329 (GRCm39)	F563L	probably damaging	Het
Ntn4	T	C	10: 93,581,633 (GRCm39)	V602A	probably damaging	Het
Obscn	C	A	11: 58,920,163 (GRCm39)	R6736L	possibly damaging	Het
Odr4	T	C	1: 150,251,305 (GRCm39)	N283S	probably benign	Het
Or13c7d	T	A	4: 43,770,495 (GRCm39)	D172V	possibly damaging	Het
Or2ag16	T	C	7: 106,351,756 (GRCm39)	I280V	probably benign	Het
Or7g22	C	A	9: 19,049,213 (GRCm39)	T308K	probably benign	Het
Or8d1	T	A	9: 38,766,820 (GRCm39)	V154D	probably benign	Het
Or8g54	C	T	9: 39,707,301 (GRCm39)	P210L	possibly damaging	Het
Or8g55	A	G	9: 39,785,267 (GRCm39)	E232G	probably benign	Het
Pik3cd	A	G	4: 149,738,576 (GRCm39)	F751L	possibly damaging	Het
Plekhh2	A	G	17: 84,906,561 (GRCm39)		probably null	Het
Postn	A	G	3: 54,281,177 (GRCm39)	H434R	probably damaging	Het
Prss39	A	G	1: 34,539,114 (GRCm39)	D118G	possibly damaging	Het
Ralyl	G	T	3: 14,208,493 (GRCm39)	G211V	possibly damaging	Het
Rbak	T	A	5: 143,159,202 (GRCm39)	E617V	probably damaging	Het
Rbms3	A	T	9: 116,548,401 (GRCm39)	W80R	probably damaging	Het
Retnlg	A	T	16: 48,694,610 (GRCm39)	Y86F	probably benign	Het
Rtel1	T	A	2: 180,993,896 (GRCm39)	S643T	probably benign	Het
Semp2l2a	A	T	8: 13,886,816 (GRCm39)	L425*	probably null	Het
Serpina11	A	T	12: 103,950,954 (GRCm39)	F256I	probably damaging	Het
Setd2	A	T	9: 110,379,413 (GRCm39)	Y1076F	probably benign	Het
Setd2	A	T	9: 110,446,884 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,421,483 (GRCm39)	T248A	possibly damaging	Het
Slc6a21	T	C	7: 44,930,179 (GRCm39)	Y193H	probably damaging	Het
Slfn9	T	C	11: 82,872,781 (GRCm39)	K652E	probably benign	Het
Stt3b	A	T	9: 115,077,675 (GRCm39)	Y692*	probably null	Het
Sval3	A	G	6: 41,945,096 (GRCm39)	Q8R	probably benign	Het
Synm	T	A	7: 67,383,748 (GRCm39)	I1305F	possibly damaging	Het
Tdrd1	T	C	19: 56,826,215 (GRCm39)	F169L	probably damaging	Het
Tecta	T	A	9: 42,295,493 (GRCm39)	D334V	probably damaging	Het
Tle2	G	A	10: 81,425,331 (GRCm39)		probably null	Het
Tmem243	A	G	5: 9,166,489 (GRCm39)	I30V	probably benign	Het
Treml2	T	C	17: 48,616,530 (GRCm39)	*330R	probably null	Het
Trpm6	A	G	19: 18,804,931 (GRCm39)	D961G	possibly damaging	Het
Ubr4	T	C	4: 139,155,907 (GRCm39)	V2244A	probably benign	Het
Unc79	G	T	12: 103,109,005 (GRCm39)	V2148F	probably damaging	Het
Ush2a	A	C	1: 188,643,024 (GRCm39)	T4129P	probably benign	Het
Vgll2	G	A	10: 51,901,324 (GRCm39)	V85I	probably damaging	Het
Vmn1r16	T	C	6: 57,300,256 (GRCm39)	Y122C	probably benign	Het
Vmn1r22	A	T	6: 57,877,134 (GRCm39)	I91N	probably damaging	Het
Vmn2r70	A	T	7: 85,213,011 (GRCm39)	Y465*	probably null	Het
Wdr64	A	T	1: 175,544,897 (GRCm39)	E110V	probably damaging	Het
Xrcc1	A	G	7: 24,247,252 (GRCm39)	Y30C	probably damaging	Het
Zdhhc7	T	C	8: 120,812,157 (GRCm39)	K155R	probably benign	Het
Zfp560	A	G	9: 20,263,226 (GRCm39)	F50S	possibly damaging	Het
Zfp616	C	T	11: 73,976,671 (GRCm39)	T980I	probably damaging	Het
Zfp808	C	T	13: 62,319,670 (GRCm39)	P300S	probably damaging	Het
Zfp979	G	A	4: 147,697,740 (GRCm39)	T323I	probably damaging	Het

Other mutations in Wfdc6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Wfdc6a	APN	2	164,426,914 (GRCm39)	splice site	probably null
PIT4445001:Wfdc6a	UTSW	2	164,421,746 (GRCm39)	makesense	probably null
R3001:Wfdc6a	UTSW	2	164,422,225 (GRCm39)	missense	probably benign	0.01
R3002:Wfdc6a	UTSW	2	164,422,225 (GRCm39)	missense	probably benign	0.01
R5299:Wfdc6a	UTSW	2	164,422,311 (GRCm39)	missense	possibly damaging	0.90
R7502:Wfdc6a	UTSW	2	164,421,761 (GRCm39)	missense	probably benign	0.00
R9557:Wfdc6a	UTSW	2	164,425,758 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGACTTTGCACTCCTGTGAC -3'
(R):5'- GGGACACAGGCATCCAAGTATC -3'

Sequencing Primer
(F):5'- ACCTCAGACGTGCAGGTTTC -3'
(R):5'- ACAGGCATCCAAGTATCTGTCTC -3'

Posted On

2014-06-23