Mutagenetix > Incidental Mutation

Incidental Mutation 'R2926:Sva'

255757

Institutional Source

Beutler Lab

Gene Symbol

Sva

Ensembl Gene

ENSMUSG00000023289

Gene Name

seminal vesicle antigen

Synonyms

MMRRC Submission

040511-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R2926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42015328-42019785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42019596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 152 (Y152F)

Ref Sequence

ENSEMBL: ENSMUSP00000112528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024059] [ENSMUST00000117406]

AlphaFold

E9PX96

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024059
AA Change: Y145F

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024059
Gene: ENSMUSG00000023289
AA Change: Y145F

Domain	Start	End	E-Value	Type
Pfam:SVA	3	135	4.3e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117406
AA Change: Y152F

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112528
Gene: ENSMUSG00000023289
AA Change: Y152F

Domain	Start	End	E-Value	Type
Pfam:SVA	10	142	7.3e-48	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	G	T	5: 124,216,902 (GRCm39)	S438R	possibly damaging	Het
Add3	A	G	19: 53,215,253 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,902,137 (GRCm39)	L506P	probably damaging	Het
Atp6v0a1	A	T	11: 100,934,774 (GRCm39)	I621L	probably damaging	Het
Calb1	T	G	4: 15,904,302 (GRCm39)	L218R	probably damaging	Het
Ccdc162	G	A	10: 41,437,203 (GRCm39)		probably benign	Het
Ccser2	A	T	14: 36,601,518 (GRCm39)	S842T	possibly damaging	Het
Cd300a	A	G	11: 114,784,139 (GRCm39)	E49G	possibly damaging	Het
Colec11	T	A	12: 28,667,428 (GRCm39)	Q37L	probably damaging	Het
D630045J12Rik	T	A	6: 38,145,106 (GRCm39)	I1307F	probably damaging	Het
Dapk1	T	C	13: 60,867,564 (GRCm39)	V257A	possibly damaging	Het
Dnah3	T	A	7: 119,550,338 (GRCm39)	N3327I	probably damaging	Het
Gja8	C	T	3: 96,826,469 (GRCm39)	V398I	probably benign	Het
Hfm1	A	T	5: 107,022,148 (GRCm39)	L179*	probably null	Het
Hsd3b9	A	G	3: 98,357,872 (GRCm39)		probably benign	Het
Ift88	T	C	14: 57,726,375 (GRCm39)	Y678H	probably damaging	Het
Itga10	A	G	3: 96,560,165 (GRCm39)	N560D	probably damaging	Het
Itpk1	G	T	12: 102,545,389 (GRCm39)	P238Q	probably damaging	Het
Kl	T	C	5: 150,876,806 (GRCm39)	W209R	probably damaging	Het
Lama4	A	G	10: 38,954,828 (GRCm39)	N1127S	probably benign	Het
Lrp1	C	T	10: 127,423,982 (GRCm39)	C830Y	probably damaging	Het
Mcmbp	G	A	7: 128,299,738 (GRCm39)		probably benign	Het
Mrps33	A	G	6: 39,782,438 (GRCm39)	S28P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Myt1	C	T	2: 181,467,803 (GRCm39)	T1079M	possibly damaging	Het
N4bp1	A	T	8: 87,588,424 (GRCm39)	Y171*	probably null	Het
Ncln	G	T	10: 81,324,272 (GRCm39)	T442K	probably benign	Het
Nphp4	T	C	4: 152,602,596 (GRCm39)	V390A	probably damaging	Het
Ntrk2	C	A	13: 59,208,098 (GRCm39)	T648K	probably damaging	Het
Nwd1	A	G	8: 73,393,640 (GRCm39)	H301R	probably damaging	Het
Or4k5	A	T	14: 50,385,893 (GRCm39)	V146E	probably benign	Het
Pcdh12	T	C	18: 38,415,443 (GRCm39)	N561D	probably damaging	Het
Pcnx1	T	A	12: 82,041,769 (GRCm39)	S2134T	probably damaging	Het
Ppp1cc	G	A	5: 122,312,151 (GRCm39)	A306T	probably benign	Het
Pramel3e	G	T	X: 134,400,297 (GRCm39)	A96S	possibly damaging	Het
Prrc2c	C	T	1: 162,533,696 (GRCm39)		probably benign	Het
Rabggta	C	T	14: 55,956,747 (GRCm39)	R319H	probably benign	Het
Scn10a	A	C	9: 119,467,767 (GRCm39)	F791C	possibly damaging	Het
Stab1	T	A	14: 30,883,756 (GRCm39)	D267V	probably damaging	Het
Tgfbrap1	T	G	1: 43,114,789 (GRCm39)	M104L	probably damaging	Het
Tmed4	T	C	11: 6,221,728 (GRCm39)	T203A	probably benign	Het
Toe1	C	T	4: 116,662,177 (GRCm39)	A331T	possibly damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm7	T	C	2: 126,700,329 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,636,170 (GRCm39)	R438*	probably null	Het
Usp11	G	T	X: 20,584,031 (GRCm39)	G601W	probably damaging	Het
Vmn2r112	A	G	17: 22,833,984 (GRCm39)	T551A	possibly damaging	Het
Vmn2r73	T	C	7: 85,520,871 (GRCm39)	K366E	probably benign	Het
Vps33a	A	G	5: 123,707,634 (GRCm39)	I111T	possibly damaging	Het

Other mutations in Sva

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01923:Sva	APN	6	42,019,104 (GRCm39)	missense	probably benign	0.03
IGL02229:Sva	APN	6	42,019,156 (GRCm39)	missense	probably damaging	0.98
IGL02800:Sva	APN	6	42,017,069 (GRCm39)	missense	unknown
R2223:Sva	UTSW	6	42,015,357 (GRCm39)	start codon destroyed	probably null	0.86
R4593:Sva	UTSW	6	42,019,592 (GRCm39)	missense	possibly damaging	0.93
R5069:Sva	UTSW	6	42,015,351 (GRCm39)	utr 5 prime	probably benign
R5150:Sva	UTSW	6	42,019,093 (GRCm39)	missense	probably benign	0.03
R6044:Sva	UTSW	6	42,017,034 (GRCm39)	missense	probably benign	0.09
R7545:Sva	UTSW	6	42,019,148 (GRCm39)	missense	probably benign	0.07
R7627:Sva	UTSW	6	42,019,598 (GRCm39)	missense	unknown
R8745:Sva	UTSW	6	42,015,357 (GRCm39)	start codon destroyed	probably null	0.86
R8772:Sva	UTSW	6	42,015,443 (GRCm39)	missense	probably benign	0.39
R8924:Sva	UTSW	6	42,019,182 (GRCm39)	missense	possibly damaging	0.88
R9229:Sva	UTSW	6	42,017,052 (GRCm39)	missense	probably benign	0.08
R9229:Sva	UTSW	6	42,017,050 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- AGTTCAAAGAGCAGCTGTACCT -3'
(R):5'- ACTTTTGGGGTTAAAGGATGTAGAT -3'

Sequencing Primer
(F):5'- AGAGCAGCTGTACCTTATATATAGG -3'
(R):5'- ATGTAGATAGTGAATTGTGAGGTGG -3'

Posted On

2014-12-29