Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00697:Svs3a'

14312

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Svs3a

Ensembl Gene

ENSMUSG00000017003

Gene Name

seminal vesicle secretory protein 3A

Synonyms

Svp-3, Svp3, Svs3, 9530026M05Rik, SVS III

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL00697

Quality Score

Status

Chromosome

Chromosomal Location

164131188-164133420 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 164131732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 100 (E100V)

Ref Sequence

ENSEMBL: ENSMUSP00000104995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017147] [ENSMUST00000109370]

AlphaFold

F2Z472

Predicted Effect

probably damaging
Transcript: ENSMUST00000017147
AA Change: E101V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000017147
Gene: ENSMUSG00000017003
AA Change: E101V

Domain	Start	End	E-Value	Type
Pfam:Semenogelin	1	93	7.7e-10	PFAM
low complexity region	210	225	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109370
AA Change: E100V

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104995
Gene: ENSMUSG00000017003
AA Change: E100V

Domain	Start	End	E-Value	Type
Pfam:Semenogelin	1	86	9.2e-11	PFAM
low complexity region	209	224	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: At this locus, the a allele determines a slow anodally migrating enzyme band and occurs in the B10.AKM/Sn strain; the b allele determines a faster band and occurs in AKR.M/Sn, C3H/He and C57BL/10Orl strains. Heterozygotes have the two parental bands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	T	A	3: 108,682,324 (GRCm39)	D495E	probably damaging	Het
Brpf1	T	A	6: 113,291,947 (GRCm39)	L331Q	probably damaging	Het
Coq10b	T	A	1: 55,100,424 (GRCm39)		probably null	Het
Diaph2	C	T	X: 129,361,689 (GRCm39)		probably benign	Het
Dsg3	T	C	18: 20,657,746 (GRCm39)		probably null	Het
Iars1	T	A	13: 49,863,204 (GRCm39)	F552Y	probably damaging	Het
Katnip	G	A	7: 125,394,622 (GRCm39)	V233M	possibly damaging	Het
Mfsd14b	C	T	13: 65,214,515 (GRCm39)	S479N	probably benign	Het
Nsmaf	A	G	4: 6,417,163 (GRCm39)		probably null	Het
Pdzd2	T	C	15: 12,373,733 (GRCm39)	Y2134C	possibly damaging	Het
Srpk2	C	T	5: 23,745,377 (GRCm39)	R95Q	probably benign	Het
Tspyl2	T	C	X: 151,122,710 (GRCm39)	D379G	probably damaging	Het

Other mutations in Svs3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0471:Svs3a	UTSW	2	164,131,801 (GRCm39)	missense	probably benign	0.00
R2143:Svs3a	UTSW	2	164,131,804 (GRCm39)	missense	probably damaging	0.99
R2440:Svs3a	UTSW	2	164,131,551 (GRCm39)	missense	possibly damaging	0.92
R5629:Svs3a	UTSW	2	164,132,040 (GRCm39)	missense	probably benign	0.40
R6564:Svs3a	UTSW	2	164,131,270 (GRCm39)	missense	probably damaging	0.98
R7030:Svs3a	UTSW	2	164,132,091 (GRCm39)	missense	probably damaging	0.99
R7087:Svs3a	UTSW	2	164,131,717 (GRCm39)	missense	possibly damaging	0.86
R7101:Svs3a	UTSW	2	164,131,933 (GRCm39)	missense	probably damaging	0.98
R9086:Svs3a	UTSW	2	164,132,062 (GRCm39)	missense	probably benign	0.02
R9442:Svs3a	UTSW	2	164,132,179 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06