Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:Svs1'

275966

Institutional Source

Beutler Lab

Gene Symbol

Svs1

Ensembl Gene

ENSMUSG00000039215

Gene Name

seminal vesicle secretory protein 1

Synonyms

SVS I

MMRRC Submission

040784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3852 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48986861-48991722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48987994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 312 (P312L)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

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

AlphaFold

Q6WIZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037696
AA Change: P312L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: P312L

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,560,439	V685A	probably damaging	Het
Abhd4	T	C	14: 54,265,367	Y44H	probably damaging	Het
AI429214	A	G	8: 36,994,442	D248G	probably damaging	Het
AY358078	A	G	14: 51,805,553	T233A	unknown	Het
Calcr	T	C	6: 3,693,735	Y353C	probably damaging	Het
Ccdc34	A	G	2: 110,032,428	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,573,873	E253G	probably benign	Het
Dnah6	A	G	6: 73,127,927	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,485,924	Y186*	probably null	Het
Dpysl4	C	T	7: 139,100,935	T575M	probably damaging	Het
Dusp7	T	A	9: 106,373,893	S406T	probably benign	Het
Gga3	T	A	11: 115,587,542	T475S	probably benign	Het
Gm10271	T	A	10: 116,956,874	K36*	probably null	Het
Gm572	G	A	4: 148,668,872	E325K	possibly damaging	Het
Golga2	A	G	2: 32,305,611	E806G	probably benign	Het
Igf1	A	T	10: 87,915,319	K126*	probably null	Het
Itpkc	A	T	7: 27,227,612	N292K	probably benign	Het
Klhl1	A	T	14: 96,280,205	M345K	probably benign	Het
Lrp2	A	G	2: 69,537,565	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,261,960	T757M	probably benign	Het
Mios	T	A	6: 8,216,453	I459K	probably benign	Het
Mrps11	T	C	7: 78,790,645	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,416,395	S68T	probably benign	Het
Mstn	C	T	1: 53,061,971	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,626	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452	S914P	probably damaging	Het
Ntn1	C	G	11: 68,385,793	D110H	probably damaging	Het
Olfr547	C	A	7: 102,535,280	H178N	probably benign	Het
Olfr585	T	C	7: 103,098,184	S148P	probably damaging	Het
Pcdh17	C	T	14: 84,447,259	Q389*	probably null	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Prr14l	T	C	5: 32,830,345	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,587,576	M534K	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,464,091	T22M	probably benign	Het
Tas2r104	A	T	6: 131,684,925	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Trim43c	T	A	9: 88,840,401	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,369,413	I411K	possibly damaging	Het
Ttn	G	T	2: 76,751,334	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,955,024	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,545,027	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,848,131	I217T	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
R4455:Svs1	UTSW	6	48987460	missense	possibly damaging	0.56
R4898:Svs1	UTSW	6	48987717	missense	possibly damaging	0.95
R4933:Svs1	UTSW	6	48987492	missense	probably damaging	1.00
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'- AGGAACTGGCTCAGAAATATGC -3'
(R):5'- TGATGGGCATGGGAAATTTAGC -3'

Sequencing Primer
(F):5'- CTGGCTCAGAAATATGCAGATG -3'
(R):5'- CATGGGAAATTTAGCATGGGGC -3'

Posted On

2015-04-06