Mutagenetix > Incidental Mutations

Incidental Mutation 'R4576:Svop'

342459

Institutional Source

Beutler Lab

Gene Symbol

Svop

Ensembl Gene

ENSMUSG00000042078

Gene Name

SV2 related protein

Synonyms

1110030H18Rik, msvop

MMRRC Submission

041799-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114026910-114091570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114065682 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 13 (V13M)

Ref Sequence

ENSEMBL: ENSMUSP00000117724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058472] [ENSMUST00000150106] [ENSMUST00000202603]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058472
AA Change: V14M

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
AA Change: V14M

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	66	347	2.2e-26	PFAM
Pfam:MFS_1	86	346	2e-23	PFAM
Pfam:MFS_1	376	541	2.5e-16	PFAM
Pfam:Sugar_tr	377	523	2.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140151

Predicted Effect

probably damaging
Transcript: ENSMUST00000150106
AA Change: V13M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117724
Gene: ENSMUSG00000042078
AA Change: V13M

Domain	Start	End	E-Value	Type
transmembrane domain	85	107	N/A	INTRINSIC
transmembrane domain	120	142	N/A	INTRINSIC
transmembrane domain	154	171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162506

Predicted Effect

probably benign
Transcript: ENSMUST00000202603

SMART Domains

Protein: ENSMUSP00000144522
Gene: ENSMUSG00000029592

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:UCH	51	144	5.8e-11	PFAM

Meta Mutation Damage Score

0.0288

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable with no phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430531B16Rik	A	G	7: 139,978,130	I51T	probably damaging	Het
Adhfe1	A	T	1: 9,553,754	D160V	probably damaging	Het
AI314180	A	T	4: 58,834,708		probably benign	Het
Ano9	T	C	7: 141,104,138	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,717,722	D510G	probably benign	Het
Atp8a1	T	C	5: 67,815,815		probably benign	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
C7	A	G	15: 5,002,756	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,239	V404A	possibly damaging	Het
Cfap54	C	T	10: 93,043,228		probably null	Het
Chml	G	T	1: 175,686,940	Q129K	probably damaging	Het
Chst2	T	C	9: 95,405,171	H374R	probably damaging	Het
Cirbp	A	G	10: 80,170,241	K84E	probably damaging	Het
Cln6	G	T	9: 62,838,949	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,292	M801T	probably benign	Het
Dapk1	A	T	13: 60,721,822	M293L	probably benign	Het
Ddx11	A	G	17: 66,150,726	K869E	probably damaging	Het
Ddx17	A	T	15: 79,541,146	M108K	probably benign	Het
Dnaaf5	C	A	5: 139,185,639	A557D	probably damaging	Het
Edil3	T	C	13: 89,319,731	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Enah	G	A	1: 181,919,563	S298L	possibly damaging	Het
Exoc7	T	C	11: 116,289,183	*685W	probably null	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Fgfbp1	C	T	5: 43,979,464	R162H	probably benign	Het
Foxj3	A	G	4: 119,621,663	S439G	unknown	Het
Fzd9	A	G	5: 135,250,312	S240P	probably damaging	Het
Gin1	A	G	1: 97,792,339	D442G	probably damaging	Het
Gm10804	C	T	2: 93,468,669		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grhl3	G	T	4: 135,561,251	T41K	probably damaging	Het
H6pd	A	T	4: 149,994,476	D243E	probably damaging	Het
Heatr6	T	A	11: 83,765,000	S306T	probably benign	Het
Hkdc1	T	C	10: 62,385,843	D812G	possibly damaging	Het
Hmcn1	G	T	1: 150,734,487	T1477K	probably benign	Het
Ift80	A	G	3: 68,950,530	S261P	possibly damaging	Het
Kcnu1	A	T	8: 25,890,020	D424V	probably benign	Het
Kctd1	A	G	18: 15,007,700	S658P	probably damaging	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,218,451		noncoding transcript	Het
Lpxn	T	C	19: 12,833,290	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,540,188		probably benign	Het
Maml3	G	A	3: 51,856,506	Q346*	probably null	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mlc1	G	A	15: 88,974,537	T136M	probably damaging	Het
Pcdhga9	A	C	18: 37,737,828	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,754,249	E657D	probably damaging	Het
Pknox2	A	G	9: 36,923,548		probably benign	Het
Plcb3	C	T	19: 6,959,047		probably benign	Het
Plxnd1	G	A	6: 115,968,044	A99V	probably benign	Het
Pnpla2	T	C	7: 141,457,344	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,366,912	K82N	probably damaging	Het
Pum3	G	A	19: 27,415,908	T389M	probably benign	Het
Pxdn	A	T	12: 30,011,923	T1165S	probably benign	Het
Rasgrf2	T	C	13: 91,896,410	D925G	possibly damaging	Het
Samhd1	A	T	2: 157,101,750	C615S	probably damaging	Het
Sec16a	A	T	2: 26,431,119	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,988,697		noncoding transcript	Het
Slitrk6	C	A	14: 110,750,170	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,716,861	H608N	probably damaging	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Tacc3	T	A	5: 33,661,497		probably benign	Het
Tango2	A	T	16: 18,301,528	D146E	probably damaging	Het
Thbs1	G	A	2: 118,119,416	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,182,063		probably null	Het
Tmem175	A	G	5: 108,644,602	D248G	possibly damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,886,240	Q521*	probably null	Het
Tssk5	C	T	15: 76,372,468	R280Q	probably benign	Het
Ttc16	A	T	2: 32,770,059	F246I	probably benign	Het
Unc79	T	C	12: 103,001,803		probably benign	Het
Vmn1r74	A	G	7: 11,846,769		probably null	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,434,654	R896H	unknown	Het
Zfp941	T	A	7: 140,811,590	K619*	probably null	Het
Zfp970	A	T	2: 177,475,680	H349L	probably damaging	Het

Other mutations in Svop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Svop	APN	5	114065528	missense	probably benign	0.02
IGL02612:Svop	APN	5	114028260	makesense	probably null
R0254:Svop	UTSW	5	114038539	missense	probably benign
R1705:Svop	UTSW	5	114042295	missense	probably damaging	1.00
R1826:Svop	UTSW	5	114060056	critical splice donor site	probably null
R3084:Svop	UTSW	5	114042238	missense	probably benign
R4494:Svop	UTSW	5	114045627	missense	probably damaging	0.99
R4575:Svop	UTSW	5	114065682	missense	probably damaging	1.00
R4578:Svop	UTSW	5	114065682	missense	probably damaging	1.00
R4725:Svop	UTSW	5	114065485	unclassified	probably benign
R5433:Svop	UTSW	5	114060125	missense	probably damaging	1.00
R5731:Svop	UTSW	5	114060063	missense	probably damaging	0.99
R5783:Svop	UTSW	5	114064935	missense	possibly damaging	0.73
R5889:Svop	UTSW	5	114065631	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- AGAACTTTCTACCACCAGGGC -3'
(R):5'- GGTTCTGTGCAGAGTCCAAC -3'

Sequencing Primer
(F):5'- AGGGCTTTTCTCACCATCAG -3'
(R):5'- CGTCCAACTGTCAACTGATCAG -3'

Posted On

2015-09-24