Mutagenetix > Incidental Mutation

Incidental Mutation 'R1108:Svs6'

98543

Institutional Source

Beutler Lab

Gene Symbol

Svs6

Ensembl Gene

ENSMUSG00000017000

Gene Name

seminal vesicle secretory protein 6

Synonyms

Svp6, SVS VI, MSVSP99

MMRRC Submission

039181-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R1108 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164158671-164160370 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 164159580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017144]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000017144

SMART Domains

Protein: ENSMUSP00000017144
Gene: ENSMUSG00000017000

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	33	41	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,610,333 (GRCm39)	T170A	probably benign	Het
Atrn	T	C	2: 130,799,834 (GRCm39)	Y404H	probably damaging	Het
Calb2	T	A	8: 110,869,760 (GRCm39)	R258*	probably null	Het
Cep128	T	A	12: 91,305,883 (GRCm39)	E173D	probably damaging	Het
Cndp2	A	G	18: 84,693,185 (GRCm39)	C192R	probably damaging	Het
Dtx3	T	A	10: 127,027,158 (GRCm39)	I339F	possibly damaging	Het
Esrrb	G	A	12: 86,552,604 (GRCm39)	R182Q	probably damaging	Het
Fgf22	T	C	10: 79,592,417 (GRCm39)	I58T	probably damaging	Het
Flcn	A	G	11: 59,692,026 (GRCm39)	F208L	possibly damaging	Het
Fras1	G	A	5: 96,790,488 (GRCm39)	C954Y	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kmt2a	G	T	9: 44,760,359 (GRCm39)	L530I	probably damaging	Het
Man1c1	T	C	4: 134,291,924 (GRCm39)	E548G	probably damaging	Het
Myh4	T	G	11: 67,146,532 (GRCm39)	L1502V	probably null	Het
Or51f23	G	A	7: 102,453,057 (GRCm39)	R124H	probably benign	Het
Or7e174	A	C	9: 20,012,121 (GRCm39)	D22A	probably benign	Het
Pak4	A	G	7: 28,259,667 (GRCm39)	M510T	probably damaging	Het
Plk2	A	G	13: 110,536,023 (GRCm39)	M576V	probably damaging	Het
Rmc1	G	A	18: 12,314,680 (GRCm39)	D87N	probably damaging	Het
Sema6a	A	G	18: 47,439,498 (GRCm39)	C9R	probably benign	Het
Spata31e2	C	G	1: 26,721,547 (GRCm39)	S1211T	possibly damaging	Het
Teddm1a	T	C	1: 153,768,066 (GRCm39)	W177R	probably damaging	Het
Trank1	A	G	9: 111,194,375 (GRCm39)	R800G	probably benign	Het
Zfp971	C	T	2: 177,675,463 (GRCm39)	P354L	probably damaging	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	probably damaging	Het

Other mutations in Svs6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Svs6	APN	2	164,159,507 (GRCm39)	missense	possibly damaging	0.85
IGL00847:Svs6	APN	2	164,159,507 (GRCm39)	missense	possibly damaging	0.85
IGL02000:Svs6	APN	2	164,159,352 (GRCm39)	splice site	probably benign
R1422:Svs6	UTSW	2	164,159,580 (GRCm39)	critical splice donor site	probably null
R1733:Svs6	UTSW	2	164,159,577 (GRCm39)	splice site	probably benign
R6225:Svs6	UTSW	2	164,159,405 (GRCm39)	missense	possibly damaging	0.85
R8556:Svs6	UTSW	2	164,159,485 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TCTCTCAACAGAAAGGTTCTCGCAAG -3'
(R):5'- AATTGAAGACATGGTCACACCTCAGG -3'

Sequencing Primer
(F):5'- GGGGATCAAGTTCTACCCATGAC -3'
(R):5'- GTACCAGTTTCTGCTCTGCC -3'

Posted On

2014-01-05