Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Svs1'

380714

Institutional Source

Beutler Lab

Gene Symbol

Svs1

Ensembl Gene

ENSMUSG00000039215

Gene Name

seminal vesicle secretory protein 1

Synonyms

SVS I

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

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

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48986861-48991722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48987492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 145 (S145P)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037696]

AlphaFold

Q6WIZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037696
AA Change: S145P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: S145P

Domain	Start	End	E-Value	Type
Pfam:Cu_amine_oxidN2	44	130	1.5e-24	PFAM
Pfam:Cu_amine_oxidN3	146	246	2.7e-16	PFAM
internal_repeat_1	286	342	7.28e-22	PROSPERO
Pfam:Cu_amine_oxid	408	811	2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203494

Meta Mutation Damage Score

0.5162

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in Svs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Svs1	APN	6	48987739	missense	probably damaging	0.98
IGL01876:Svs1	APN	6	48990036	missense	possibly damaging	0.71
IGL01934:Svs1	APN	6	48988761	missense	probably damaging	0.97
IGL03002:Svs1	APN	6	48987118	missense	probably benign	0.01
IGL03059:Svs1	APN	6	48987415	missense	probably benign	0.13
IGL03213:Svs1	APN	6	48988345	missense	possibly damaging	0.92
IGL03249:Svs1	APN	6	48988369	missense	probably benign
IGL03365:Svs1	APN	6	48988597	missense	probably damaging	0.97
PIT4280001:Svs1	UTSW	6	48987120	missense	probably benign	0.01
PIT4495001:Svs1	UTSW	6	48987776	missense	possibly damaging	0.92
R0010:Svs1	UTSW	6	48988906	missense	probably damaging	0.99
R0528:Svs1	UTSW	6	48988031	missense	probably benign
R0784:Svs1	UTSW	6	48987301	missense	possibly damaging	0.78
R0959:Svs1	UTSW	6	48988632	missense	possibly damaging	0.89
R1173:Svs1	UTSW	6	48990239	missense	probably damaging	1.00
R1174:Svs1	UTSW	6	48990239	missense	probably damaging	1.00
R1175:Svs1	UTSW	6	48990239	missense	probably damaging	1.00
R1940:Svs1	UTSW	6	48990073	nonsense	probably null
R3115:Svs1	UTSW	6	48987397	missense	probably damaging	0.99
R3116:Svs1	UTSW	6	48987397	missense	probably damaging	0.99
R3808:Svs1	UTSW	6	48987994	missense	possibly damaging	0.93
R3809:Svs1	UTSW	6	48987994	missense	possibly damaging	0.93
R3852:Svs1	UTSW	6	48987994	missense	possibly damaging	0.93
R4455:Svs1	UTSW	6	48987460	missense	possibly damaging	0.56
R4898:Svs1	UTSW	6	48987717	missense	possibly damaging	0.95
R5108:Svs1	UTSW	6	48988570	missense	probably damaging	0.97
R5320:Svs1	UTSW	6	48987575	missense	probably benign	0.02
R6053:Svs1	UTSW	6	48988488	missense	probably benign	0.42
R6728:Svs1	UTSW	6	48988845	missense	possibly damaging	0.86
R6922:Svs1	UTSW	6	48987574	missense	probably damaging	0.99
R7045:Svs1	UTSW	6	48988612	missense	possibly damaging	0.81
R7046:Svs1	UTSW	6	48987578	missense	probably benign	0.11
R7137:Svs1	UTSW	6	48990149	missense	probably damaging	1.00
R7267:Svs1	UTSW	6	48988018	small deletion	probably benign
R7874:Svs1	UTSW	6	48988666	missense	possibly damaging	0.91
R7993:Svs1	UTSW	6	48987608	missense	possibly damaging	0.85
R8238:Svs1	UTSW	6	48990041	missense	probably damaging	0.96
R8807:Svs1	UTSW	6	48988254	missense	probably benign	0.30
R9036:Svs1	UTSW	6	48988140	small deletion	probably benign
R9070:Svs1	UTSW	6	48988395	missense	possibly damaging	0.80
R9350:Svs1	UTSW	6	48988326	missense	probably damaging	1.00
R9451:Svs1	UTSW	6	48988840	missense	probably damaging	1.00
R9498:Svs1	UTSW	6	48988018	small deletion	probably benign
X0022:Svs1	UTSW	6	48988339	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGAGATGCTGATGCCCAAG -3'
(R):5'- TGCGTTGCAAAAGAAACCAG -3'

Sequencing Primer
(F):5'- TGCTGATGCCCAAGAAGTATG -3'
(R):5'- AGCTATGGCGCTTTCCAAATG -3'

Posted On

2016-04-15