Mutagenetix > Incidental Mutation

Incidental Mutation 'R3619:Wfdc6b'

268547

Institutional Source

Beutler Lab

Gene Symbol

Wfdc6b

Ensembl Gene

ENSMUSG00000070531

Gene Name

WAP four-disulfide core domain 6B

Synonyms

Wfdc6

MMRRC Submission

040676-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164455442-164460132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164456826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 46 (Y46F)

Ref Sequence

ENSEMBL: ENSMUSP00000091906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094346] [ENSMUST00000094351] [ENSMUST00000109338] [ENSMUST00000109339]

AlphaFold

F6ULY1

Predicted Effect

probably benign
Transcript: ENSMUST00000094346
AA Change: Y46F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000091906
Gene: ENSMUSG00000070531
AA Change: Y46F

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
WAP	42	84	2.99e-1	SMART
KU	86	139	7.78e-26	SMART

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

1x: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc82	T	A	9: 13,251,931 (GRCm39)	D74E	probably benign	Het
Chmp3	T	A	6: 71,554,809 (GRCm39)	I168N	probably damaging	Het
Dazap1	T	C	10: 80,121,194 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,926,118 (GRCm39)	S673P	possibly damaging	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
Fgf11	T	C	11: 69,690,234 (GRCm39)	S118G	probably benign	Het
Foxi3	T	C	6: 70,934,047 (GRCm39)	L178P	probably damaging	Het
Gbx1	G	T	5: 24,731,111 (GRCm39)	P235Q	probably benign	Het
Gm8267	A	T	14: 44,961,513 (GRCm39)	M60K	possibly damaging	Het
Gnmt	G	A	17: 47,039,963 (GRCm39)	R39C	possibly damaging	Het
Hnrnpab	T	C	11: 51,493,438 (GRCm39)	N257D	possibly damaging	Het
Klhl31	G	T	9: 77,562,758 (GRCm39)	A508S	probably benign	Het
Lrif1	A	G	3: 106,639,862 (GRCm39)	K316E	probably damaging	Het
Magi3	A	T	3: 103,961,721 (GRCm39)	F436I	probably damaging	Het
Mef2a	G	A	7: 66,918,075 (GRCm39)	S111L	probably benign	Het
Micu1	T	C	10: 59,604,080 (GRCm39)		probably null	Het
Mpst	A	G	15: 78,294,322 (GRCm39)	E18G	probably damaging	Het
Npepps	G	T	11: 97,139,091 (GRCm39)	F160L	possibly damaging	Het
Or10al2	T	A	17: 37,983,531 (GRCm39)	F206I	probably benign	Het
Or5p81	A	T	7: 108,267,057 (GRCm39)	I145F	probably benign	Het
Orc6	T	C	8: 86,026,623 (GRCm39)		probably null	Het
Palm3	T	A	8: 84,755,973 (GRCm39)	V495E	probably benign	Het
Pam	A	G	1: 97,762,157 (GRCm39)	F809L	probably damaging	Het
Pcdh15	T	C	10: 74,479,227 (GRCm39)	V708A	probably benign	Het
Pcdha12	G	A	18: 37,153,757 (GRCm39)	D159N	probably damaging	Het
Plxna1	C	A	6: 89,334,435 (GRCm39)	A65S	probably damaging	Het
Ptprt	T	C	2: 161,408,077 (GRCm39)	Y945C	probably damaging	Het
Pym1	T	G	10: 128,601,073 (GRCm39)	V31G	probably damaging	Het
Stard9	C	T	2: 120,529,500 (GRCm39)	T1919I	possibly damaging	Het
Tas1r3	C	T	4: 155,945,410 (GRCm39)	V604I	probably damaging	Het
Ttc27	G	A	17: 75,058,123 (GRCm39)		probably null	Het
Zbtb48	A	T	4: 152,110,484 (GRCm39)		probably null	Het
Zfp385b	G	A	2: 77,246,233 (GRCm39)	P177S	probably benign	Het

Other mutations in Wfdc6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02874:Wfdc6b	APN	2	164,459,368 (GRCm39)	critical splice donor site	probably null
R0031:Wfdc6b	UTSW	2	164,455,779 (GRCm39)	missense	probably damaging	1.00
R0975:Wfdc6b	UTSW	2	164,455,705 (GRCm39)	missense	probably damaging	1.00
R2118:Wfdc6b	UTSW	2	164,459,363 (GRCm39)	missense	probably benign	0.18
R2124:Wfdc6b	UTSW	2	164,459,363 (GRCm39)	missense	probably benign	0.18
R4746:Wfdc6b	UTSW	2	164,459,353 (GRCm39)	nonsense	probably null
R4846:Wfdc6b	UTSW	2	164,459,214 (GRCm39)	missense	possibly damaging	0.53
R7749:Wfdc6b	UTSW	2	164,459,339 (GRCm39)	missense	probably damaging	1.00
R7792:Wfdc6b	UTSW	2	164,459,822 (GRCm39)	missense	probably damaging	0.98
R9200:Wfdc6b	UTSW	2	164,455,708 (GRCm39)	missense	possibly damaging	0.72
Z1191:Wfdc6b	UTSW	2	164,455,591 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGTGGCCAGTGTTGTGAAAAC -3'
(R):5'- TCAACACCATGAGAATCTGGG -3'

Sequencing Primer
(F):5'- TTGTGAAAACCCTGAGCTGC -3'
(R):5'- TGAGAATCTGGGTCACACAC -3'

Posted On

2015-02-19