Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Svs6'

278005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Svs6

Ensembl Gene

ENSMUSG00000017000

Gene Name

seminal vesicle secretory protein 6

Synonyms

Svp6, SVS VI, MSVSP99

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

164158671-164160370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 164159507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 90 (K90T)

Ref Sequence

ENSEMBL: ENSMUSP00000017144 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017144
AA Change: K90T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017144
Gene: ENSMUSG00000017000
AA Change: K90T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	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
IGL02000:Svs6	APN	2	164,159,352 (GRCm39)	splice site	probably benign
R1108:Svs6	UTSW	2	164,159,580 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-04-16