Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03365:Svs1'

420038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Svs1

Ensembl Gene

ENSMUSG00000039215

Gene Name

seminal vesicle secretory protein 1

Synonyms

SVS I

Accession Numbers

Is this an essential gene?

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

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

48986861-48991722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48988597 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 513 (D513G)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

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

AlphaFold

Q6WIZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037696
AA Change: D513G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: D513G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Parp12	G	A	6: 39,102,647	R310W	probably damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly 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
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
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

Posted On

2016-08-02