Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01930:Sval3'

180399

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sval3

Ensembl Gene

ENSMUSG00000062833

Gene Name

seminal vesicle antigen-like 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01930

Quality Score

Status

Chromosome

Chromosomal Location

41945074-41950024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41949455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 98 (N98D)

Ref Sequence

ENSEMBL: ENSMUSP00000079566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080742]

AlphaFold

Q76I99

Predicted Effect

probably benign
Transcript: ENSMUST00000080742
AA Change: N98D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000079566
Gene: ENSMUSG00000062833
AA Change: N98D

Domain	Start	End	E-Value	Type
Pfam:SVA	3	123	4.7e-46	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433N12Rik	C	T	9: 3,134,875 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,085 (GRCm39)	Y126C	probably benign	Het
Akr1c20	T	A	13: 4,557,647 (GRCm39)		probably benign	Het
Cdan1	T	C	2: 120,557,063 (GRCm39)		probably benign	Het
Cdc42bpg	C	T	19: 6,361,398 (GRCm39)	A308V	probably damaging	Het
Dek	T	C	13: 47,241,611 (GRCm39)	I318V	probably benign	Het
Dvl1	A	G	4: 155,940,645 (GRCm39)	M422V	possibly damaging	Het
Dync2i1	A	G	12: 116,189,583 (GRCm39)		probably null	Het
Erbin	G	A	13: 103,977,680 (GRCm39)	L626F	probably damaging	Het
Fa2h	A	T	8: 112,075,936 (GRCm39)	V229E	possibly damaging	Het
Gfpt1	T	A	6: 87,036,397 (GRCm39)	H193Q	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gpr162	A	G	6: 124,838,575 (GRCm39)	L25P	possibly damaging	Het
Hsd3b5	T	C	3: 98,529,475 (GRCm39)	T52A	probably benign	Het
Megf8	T	A	7: 25,034,286 (GRCm39)	V668D	probably damaging	Het
Or10j2	T	C	1: 173,098,177 (GRCm39)	V145A	probably benign	Het
Prkdc	A	G	16: 15,516,751 (GRCm39)	T1042A	probably damaging	Het
Rasgrf2	A	G	13: 92,130,857 (GRCm39)	S735P	probably damaging	Het
Serpina3n	T	A	12: 104,375,231 (GRCm39)	L101H	probably damaging	Het
Sipa1l2	T	C	8: 126,145,978 (GRCm39)	D1674G	probably damaging	Het
Tbc1d16	G	A	11: 119,046,901 (GRCm39)	R449C	possibly damaging	Het
Tm7sf3	A	C	6: 146,512,431 (GRCm39)	I321S	possibly damaging	Het
Tmem273	G	A	14: 32,538,814 (GRCm39)	E92K	probably benign	Het
Trappc13	A	G	13: 104,284,586 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdr76	A	G	2: 121,341,303 (GRCm39)	D116G	possibly damaging	Het
Zscan18	T	C	7: 12,509,275 (GRCm39)		probably benign	Het

Other mutations in Sval3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02004:Sval3	APN	6	41,949,776 (GRCm39)	splice site	probably benign
IGL02366:Sval3	APN	6	41,946,659 (GRCm39)	splice site	probably benign
R0256:Sval3	UTSW	6	41,949,839 (GRCm39)	missense	probably damaging	0.98
R0310:Sval3	UTSW	6	41,945,120 (GRCm39)	missense	probably damaging	1.00
R1796:Sval3	UTSW	6	41,945,096 (GRCm39)	missense	probably benign	0.03
R6541:Sval3	UTSW	6	41,949,380 (GRCm39)	missense	probably damaging	1.00
R7750:Sval3	UTSW	6	41,949,360 (GRCm39)	missense	possibly damaging	0.73
R8279:Sval3	UTSW	6	41,949,371 (GRCm39)	missense	possibly damaging	0.93
R8320:Sval3	UTSW	6	41,949,458 (GRCm39)	missense	probably benign	0.00
R9462:Sval3	UTSW	6	41,945,105 (GRCm39)	missense	possibly damaging	0.81

Posted On

2014-05-07