Mutagenetix > Incidental Mutation

Incidental Mutation 'R0031:Wfdc6b'

18648

Institutional Source

Beutler Lab

Gene Symbol

Wfdc6b

Ensembl Gene

ENSMUSG00000070531

Gene Name

WAP four-disulfide core domain 6B

Synonyms

Wfdc6

MMRRC Submission

038325-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

164455442-164460132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164455779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 36 (E36V)

Ref Sequence

ENSEMBL: ENSMUSP00000091906 (fasta)

Gene Model

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

AlphaFold

F6ULY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094346
AA Change: E36V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091906
Gene: ENSMUSG00000070531
AA Change: E36V

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

Meta Mutation Damage Score

0.3021

Coding Region Coverage

1x: 81.0%
3x: 73.5%
10x: 52.2%
20x: 32.1%

Validation Efficiency

93% (95/102)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	G	A	2: 69,115,652 (GRCm39)	R571C	probably damaging	Het
Agr3	T	C	12: 35,997,590 (GRCm39)	M100T	probably benign	Het
Ankrd7	T	A	6: 18,870,007 (GRCm39)	Y253*	probably null	Het
Atp2c2	A	T	8: 120,475,801 (GRCm39)	T565S	probably benign	Het
Ccdc88b	G	T	19: 6,831,151 (GRCm39)	S597Y	possibly damaging	Het
Celsr2	T	C	3: 108,320,379 (GRCm39)	N811S	probably damaging	Het
Cep170	A	T	1: 176,583,657 (GRCm39)	D907E	probably damaging	Het
Cip2a	C	T	16: 48,837,736 (GRCm39)	S812F	probably benign	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Cmss1	T	G	16: 57,131,612 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,204,945 (GRCm39)	T579A	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Csrp2	C	T	10: 110,774,601 (GRCm39)	S172L	probably benign	Het
Fip1l1	T	C	5: 74,717,770 (GRCm39)	S235P	probably damaging	Het
Gbgt1	T	A	2: 28,388,462 (GRCm39)		probably benign	Het
Gml2	T	C	15: 74,696,125 (GRCm39)	I173T	probably benign	Het
Gucy2c	T	A	6: 136,674,997 (GRCm39)	I1005F	probably damaging	Het
Irak3	T	A	10: 120,012,225 (GRCm39)	K88*	probably null	Het
Klc1	T	C	12: 111,743,467 (GRCm39)	Y265H	probably damaging	Het
Lamb1	G	A	12: 31,351,155 (GRCm39)	V754I	probably benign	Het
Lrguk	A	T	6: 34,020,431 (GRCm39)	Q58H	probably damaging	Het
Lyst	A	G	13: 13,882,741 (GRCm39)	D2902G	probably benign	Het
Mtpap	T	A	18: 4,383,244 (GRCm39)	I207N	probably damaging	Het
Ncdn	A	T	4: 126,643,901 (GRCm39)		probably null	Het
Nup160	A	G	2: 90,547,931 (GRCm39)		probably null	Het
Ormdl1	A	G	1: 53,338,318 (GRCm39)		probably benign	Het
Pde5a	A	G	3: 122,596,704 (GRCm39)	M432V	probably benign	Het
Pikfyve	T	A	1: 65,255,088 (GRCm39)		probably benign	Het
Plcb2	A	G	2: 118,545,942 (GRCm39)	V581A	probably benign	Het
Plpp6	T	A	19: 28,942,243 (GRCm39)	N281K	probably benign	Het
Pwp1	T	C	10: 85,721,760 (GRCm39)	I422T	probably benign	Het
Rims1	T	C	1: 22,367,103 (GRCm39)	N1199S	probably damaging	Het
Sema3c	T	C	5: 17,899,726 (GRCm39)	L406P	probably damaging	Het
Senp6	C	T	9: 80,033,525 (GRCm39)	P84L	probably damaging	Het
Setx	A	G	2: 29,066,941 (GRCm39)	I2361V	probably benign	Het
Slc25a12	C	T	2: 71,163,958 (GRCm39)	V106M	possibly damaging	Het
Slc3a1	A	G	17: 85,340,274 (GRCm39)	Y232C	probably damaging	Het
Spata31g1	A	T	4: 42,973,712 (GRCm39)	K1015M	probably damaging	Het
Taf1c	A	T	8: 120,325,829 (GRCm39)	C678S	probably benign	Het
Tcp11l2	G	T	10: 84,427,004 (GRCm39)	C156F	probably damaging	Het
Tmem62	A	G	2: 120,829,594 (GRCm39)	T316A	probably benign	Het
Ulk4	A	G	9: 121,102,048 (GRCm39)	I10T	probably damaging	Het
Vps54	T	C	11: 21,262,899 (GRCm39)	I824T	probably damaging	Het
Wdfy3	A	T	5: 102,037,161 (GRCm39)	V2042E	probably damaging	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	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
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
R3619:Wfdc6b	UTSW	2	164,456,826 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-03-25