Mutagenetix > Incidental Mutation

Incidental Mutation 'R8279:Sval3'

638110

Institutional Source

Beutler Lab

Gene Symbol

Sval3

Ensembl Gene

ENSMUSG00000062833

Gene Name

seminal vesicle antigen-like 3

Synonyms

MMRRC Submission

067702-MU

Accession Numbers

Essential gene?

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

Stock #

R8279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41945074-41950024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41949371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 70 (T70A)

Ref Sequence

ENSEMBL: ENSMUSP00000079566 (fasta)

Gene Model

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

AlphaFold

Q76I99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080742
AA Change: T70A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079566
Gene: ENSMUSG00000062833
AA Change: T70A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,069,549 (GRCm39)	N1282S	probably benign	Het
Als2cl	A	G	9: 110,723,653 (GRCm39)	H683R	probably damaging	Het
Ank2	C	T	3: 126,726,820 (GRCm39)	D825N	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
C3	A	G	17: 57,522,809 (GRCm39)	V1025A	probably benign	Het
Cc2d2a	T	C	5: 43,893,487 (GRCm39)	S1489P	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdk14	G	A	5: 5,316,125 (GRCm39)		probably benign	Het
Clpb	T	C	7: 101,355,695 (GRCm39)	V183A	possibly damaging	Het
Cpa3	C	T	3: 20,277,478 (GRCm39)	M232I	possibly damaging	Het
Cyp2j7	A	G	4: 96,116,796 (GRCm39)		probably null	Het
Dnah2	A	G	11: 69,366,399 (GRCm39)	I1907T	probably damaging	Het
Efemp1	T	C	11: 28,871,795 (GRCm39)	F437L	possibly damaging	Het
Fat1	T	A	8: 45,483,384 (GRCm39)		probably null	Het
Fry	A	T	5: 150,419,726 (GRCm39)	T599S		Het
Gm10142	T	A	10: 77,552,001 (GRCm39)	*121R	probably null	Het
Kcng3	A	C	17: 83,895,254 (GRCm39)	F404C	probably damaging	Het
Mefv	T	G	16: 3,533,086 (GRCm39)	H395P	unknown	Het
Mrc1	T	A	2: 14,271,168 (GRCm39)	D357E	possibly damaging	Het
Muc15	A	G	2: 110,562,052 (GRCm39)	T163A	probably benign	Het
Ncdn	T	C	4: 126,644,199 (GRCm39)	T208A	probably benign	Het
Or2q1	A	T	6: 42,794,557 (GRCm39)	I51F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pdpk1	A	G	17: 24,307,147 (GRCm39)	S395P	probably benign	Het
Slc27a6	T	C	18: 58,705,251 (GRCm39)	V211A	probably benign	Het
Slco3a1	T	C	7: 73,934,144 (GRCm39)	D676G	possibly damaging	Het
Slfn4	T	G	11: 83,077,482 (GRCm39)	M90R	possibly damaging	Het
Ssbp4	T	C	8: 71,054,955 (GRCm39)	D68G	probably damaging	Het
Taf1c	C	T	8: 120,325,750 (GRCm39)	R704Q	probably benign	Het
Tex15	T	A	8: 34,061,765 (GRCm39)	D398E	probably damaging	Het
Tmprss3	A	T	17: 31,416,709 (GRCm39)	V9E	probably benign	Het
Vps35l	T	A	7: 118,345,722 (GRCm39)	M109K	probably benign	Het

Other mutations in Sval3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01930:Sval3	APN	6	41,949,455 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTTCTACATGGGGTCTAAAGTG -3'
(R):5'- TGGTTTCTCATCAGTACTCCAG -3'

Sequencing Primer
(F):5'- ACATGGGGTCTAAAGTGAATTTGTC -3'
(R):5'- TCTCATCAGTACTCCAGAATCATC -3'

Posted On

2020-07-28