Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Svs1'

406044

Institutional Source

Beutler Lab

Gene Symbol

Svs1

Ensembl Gene

ENSMUSG00000039215

Gene Name

seminal vesicle secretory protein 1

Synonyms

SVS I

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48986861-48991722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48987575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 172 (F172L)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

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

AlphaFold

Q6WIZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000037696
AA Change: F172L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: F172L

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,567	I581N	probably damaging	Het
Abcb10	A	G	8: 123,971,024	F187S	probably benign	Het
Actl11	T	A	9: 107,931,004	V842E	possibly damaging	Het
Akap12	A	G	10: 4,357,291	D1367G	probably benign	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,425,042	V258M	probably damaging	Het
Bptf	T	A	11: 107,081,367	K892*	probably null	Het
Cap2	A	G	13: 46,648,364	*422W	probably null	Het
Cars2	G	T	8: 11,517,854	H414N	probably benign	Het
Ccnt1	A	C	15: 98,544,243	S381R	probably benign	Het
Cdyl2	A	T	8: 116,595,055	C244*	probably null	Het
Cers2	A	G	3: 95,320,994	E115G	probably null	Het
Cpt1b	G	A	15: 89,419,274	P553S	probably benign	Het
Cuedc1	A	G	11: 88,177,310	E128G	probably damaging	Het
Dll4	T	A	2: 119,326,487	V80D	probably damaging	Het
Dopey2	T	C	16: 93,739,986	L113P	probably damaging	Het
Doxl2	T	A	6: 48,975,540	L133Q	probably damaging	Het
Fam98a	A	G	17: 75,538,815	I312T	probably damaging	Het
Gnrhr	T	G	5: 86,197,614	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,405,873	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,818,277	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,159,639	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,262,983	I687N	probably damaging	Het
Krt18	A	T	15: 102,028,520	D81V	probably damaging	Het
Lama3	A	C	18: 12,552,855	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,546,465	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,810,333	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,859,001	I1895F	unknown	Het
Myh8	G	A	11: 67,286,263	V414I	probably damaging	Het
Myo1d	A	T	11: 80,684,323		probably null	Het
Nav2	A	T	7: 49,491,373	M889L	probably benign	Het
Oc90	C	T	15: 65,882,608	G236D	probably benign	Het
Olfr60	A	G	7: 140,345,635	V118A	probably benign	Het
Pak4	A	G	7: 28,568,206	I11T	probably damaging	Het
Papss2	T	C	19: 32,638,387	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,463,791	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,151,103	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,252,776	I174F	possibly damaging	Het
Pom121l2	G	A	13: 21,981,845	W95*	probably null	Het
Prcp	A	T	7: 92,928,635	T336S	probably benign	Het
Prdm11	A	C	2: 93,012,881	S78A	probably benign	Het
Ralgds	T	C	2: 28,545,212	I405T	probably damaging	Het
Rasgrf1	A	G	9: 90,020,425	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,408,834		probably null	Het
Rb1	A	T	14: 73,213,126	Y599*	probably null	Het
Rnf141	A	T	7: 110,833,803	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,116,416	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,648,109	V736I	probably damaging	Het
Sim2	A	T	16: 94,104,739	T141S	probably benign	Het
Slc6a15	G	T	10: 103,408,206	V436L	probably damaging	Het
Smarca2	T	C	19: 26,691,372	S924P	probably damaging	Het
Tacc1	T	C	8: 25,181,865	E449G	probably benign	Het
Tlr3	A	T	8: 45,399,100	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,479,856	A82T	probably benign	Het
Tom1l2	A	T	11: 60,242,822	L54*	probably null	Het
Trav12-2	A	G	14: 53,616,899	Y110C	probably benign	Het
Trdn	T	A	10: 33,333,251		probably null	Het
Trim36	G	T	18: 46,167,498	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,299,178	M600L	probably damaging	Het
Trpm2	T	A	10: 77,923,521	Q1143L	probably benign	Het
Usp34	T	A	11: 23,333,739	D144E	probably benign	Het
Vps18	A	T	2: 119,297,377	R894*	probably null	Het
Vwa1	A	G	4: 155,770,912	V248A	probably benign	Het
Wdr75	T	C	1: 45,799,051	V40A	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
R4933:Svs1	UTSW	6	48987492	missense	probably damaging	1.00
R5108:Svs1	UTSW	6	48988570	missense	probably damaging	0.97
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'- AAGCCCGTGTTCTGATCTAC -3'
(R):5'- AGTCCTGGACATCTGTGCTC -3'

Sequencing Primer
(F):5'- ATCTACTTTGGTGCCCAGGAGTAC -3'
(R):5'- TGTGCTCCCATGGTCCAAAAG -3'

Posted On

2016-07-22