Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02793:Sval2'

359853

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sval2

Ensembl Gene

ENSMUSG00000014104

Gene Name

seminal vesicle antigen-like 2

Synonyms

SLP-M

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02793

Quality Score

Status

Chromosome

Chromosomal Location

41837241-41841347 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41838795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 11 (Y11S)

Ref Sequence

ENSEMBL: ENSMUSP00000113701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014248] [ENSMUST00000119995] [ENSMUST00000120605]

AlphaFold

Q99N75

Predicted Effect

probably benign
Transcript: ENSMUST00000014248

SMART Domains

Protein: ENSMUSP00000014248
Gene: ENSMUSG00000014104

Domain	Start	End	E-Value	Type
Pfam:SVA	3	124	6.8e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119995
AA Change: Y11S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113701
Gene: ENSMUSG00000014104
AA Change: Y11S

Domain	Start	End	E-Value	Type
Pfam:SVA	9	104	5.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120605

SMART Domains

Protein: ENSMUSP00000113417
Gene: ENSMUSG00000014104

Domain	Start	End	E-Value	Type
Pfam:SVA	1	85	1.4e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143093

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,122,293 (GRCm39)	I397V	possibly damaging	Het
Bco2	A	T	9: 50,455,834 (GRCm39)	V173E	probably damaging	Het
Bdnf	T	C	2: 109,554,196 (GRCm39)	V150A	probably damaging	Het
Cdh15	T	A	8: 123,587,721 (GRCm39)	V215E	probably damaging	Het
Col6a2	A	T	10: 76,432,144 (GRCm39)	I1003N	possibly damaging	Het
Daam2	A	C	17: 49,771,056 (GRCm39)	I887S	probably damaging	Het
Dnajb13	C	T	7: 100,156,648 (GRCm39)	D143N	probably damaging	Het
Fabp3-ps1	T	A	10: 86,567,943 (GRCm39)		probably benign	Het
Gid4	G	A	11: 60,323,256 (GRCm39)	R116Q	probably benign	Het
Hectd2	A	G	19: 36,564,821 (GRCm39)	E34G	probably damaging	Het
Hyal6	A	T	6: 24,734,378 (GRCm39)	K104*	probably null	Het
Il1b	A	G	2: 129,209,171 (GRCm39)	I153T	probably benign	Het
Kdm3b	A	G	18: 34,962,072 (GRCm39)	M1499V	probably damaging	Het
Kntc1	C	A	5: 123,916,340 (GRCm39)		probably null	Het
Lmbr1	A	G	5: 29,497,186 (GRCm39)	S72P	probably damaging	Het
Lrrc2	T	C	9: 110,808,695 (GRCm39)		probably null	Het
Map2k5	T	C	9: 63,164,321 (GRCm39)	I328V	probably benign	Het
Mphosph9	T	A	5: 124,421,800 (GRCm39)		probably null	Het
Mpp4	C	T	1: 59,175,993 (GRCm39)		probably null	Het
Ndrg3	A	G	2: 156,791,952 (GRCm39)		probably null	Het
Ndufa10	A	C	1: 92,397,639 (GRCm39)	Y136D	probably damaging	Het
Or10ak9	A	T	4: 118,726,794 (GRCm39)	D271V	probably damaging	Het
Or2b7	T	A	13: 21,740,172 (GRCm39)	S7C	probably damaging	Het
Or4a72	T	C	2: 89,405,896 (GRCm39)	Y58C	probably damaging	Het
Or8g34	A	G	9: 39,372,802 (GRCm39)	E22G	probably benign	Het
Rab18	T	C	18: 6,788,474 (GRCm39)		probably benign	Het
Rad1	T	C	15: 10,493,365 (GRCm39)	I264T	probably benign	Het
Rhbdf1	A	G	11: 32,163,293 (GRCm39)	V393A	possibly damaging	Het
Rrp12	A	G	19: 41,860,005 (GRCm39)	L1025P	probably damaging	Het
Rtca	A	G	3: 116,286,726 (GRCm39)	F302S	probably damaging	Het
Slc9b1	T	A	3: 135,080,167 (GRCm39)		probably benign	Het
Sspo	A	T	6: 48,464,828 (GRCm39)		probably benign	Het
Ssrp1	T	A	2: 84,871,264 (GRCm39)	I257N	probably damaging	Het
Tcl1b2	T	C	12: 105,120,358 (GRCm39)	*118Q	probably null	Het
Thsd7b	A	G	1: 129,879,130 (GRCm39)	Y989C	probably damaging	Het
Tlr4	A	C	4: 66,757,681 (GRCm39)	H158P	probably damaging	Het
Vmn2r42	T	C	7: 8,197,852 (GRCm39)	T256A	probably benign	Het
Xdh	T	C	17: 74,207,576 (GRCm39)	E927G	probably damaging	Het
Yap1	T	C	9: 7,973,907 (GRCm39)	N178S	probably benign	Het

Other mutations in Sval2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03338:Sval2	APN	6	41,841,181 (GRCm39)	missense	probably damaging	1.00
R1224:Sval2	UTSW	6	41,841,188 (GRCm39)	missense	probably benign	0.02
R1912:Sval2	UTSW	6	41,841,254 (GRCm39)	makesense	probably null
R3968:Sval2	UTSW	6	41,838,861 (GRCm39)	missense	probably damaging	1.00
R4238:Sval2	UTSW	6	41,837,283 (GRCm39)	missense	probably damaging	1.00
R5138:Sval2	UTSW	6	41,838,879 (GRCm39)	missense	probably damaging	0.99
R8024:Sval2	UTSW	6	41,837,298 (GRCm39)	missense	probably damaging	0.97
R9435:Sval2	UTSW	6	41,840,795 (GRCm39)	missense	probably benign	0.00
R9757:Sval2	UTSW	6	41,838,774 (GRCm39)	missense	possibly damaging	0.96

Posted On

2015-12-18