Mutagenetix > Incidental Mutation

Incidental Mutation 'R3084:Svop'

265524

Institutional Source

Beutler Lab

Gene Symbol

Svop

Ensembl Gene

ENSMUSG00000042078

Gene Name

SV2 related protein

Synonyms

msvop, 1110030H18Rik

MMRRC Submission

040573-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3084 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

114164974-114229441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114180299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 283 (T283A)

Ref Sequence

ENSEMBL: ENSMUSP00000050730 (fasta)

Gene Model

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

AlphaFold

Q8BFT9

Predicted Effect

probably benign
Transcript: ENSMUST00000058472
AA Change: T283A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
AA Change: T283A

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: ENSMUST00000149480

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (43/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,170,733 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,655,122 (GRCm39)	R3223G	probably benign	Het
Arhgef26	T	C	3: 62,285,037 (GRCm39)	V431A	probably benign	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cenpe	A	G	3: 134,946,782 (GRCm39)	E1099G	probably damaging	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,390,145 (GRCm39)	I352V	probably benign	Het
Dhrs2	G	T	14: 55,477,301 (GRCm39)	V179L	probably benign	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dlg5	T	C	14: 24,216,258 (GRCm39)	T595A	probably damaging	Het
Fhip1a	T	A	3: 85,573,275 (GRCm39)		probably null	Het
Frk	G	A	10: 34,483,950 (GRCm39)	G437D	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm5699	G	T	1: 31,037,873 (GRCm39)		noncoding transcript	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Ifit3	A	T	19: 34,564,640 (GRCm39)	H62L	probably damaging	Het
Krt34	T	C	11: 99,931,847 (GRCm39)	N124S	probably damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mmd	C	T	11: 90,156,911 (GRCm39)	R129C	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Pomt1	G	T	2: 32,134,252 (GRCm39)	V258L	probably benign	Het
Ppp2r5e	T	C	12: 75,515,390 (GRCm39)	I215V	probably benign	Het
Ranbp10	A	T	8: 106,501,263 (GRCm39)	L329Q	probably damaging	Het
Robo1	T	A	16: 72,801,625 (GRCm39)	L1083Q	probably benign	Het
Rsph4a	G	C	10: 33,785,198 (GRCm39)	V370L	probably damaging	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Tep1	A	T	14: 51,064,511 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,715,400 (GRCm39)	K132E	probably benign	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Ttf2	C	T	3: 100,855,580 (GRCm39)	G872R	possibly damaging	Het
Vmn1r17	A	G	6: 57,337,768 (GRCm39)	V199A	probably damaging	Het
Vmn1r178	A	G	7: 23,593,331 (GRCm39)	I126M	possibly damaging	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Washc2	A	G	6: 116,204,454 (GRCm39)	N454S	probably benign	Het
Xirp2	T	G	2: 67,339,393 (GRCm39)	F545V	probably damaging	Het
Zfyve26	G	T	12: 79,312,457 (GRCm39)		probably benign	Het

Other mutations in Svop

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02220:Svop	APN	5	114,203,589 (GRCm39)	missense	probably benign	0.02
IGL02612:Svop	APN	5	114,166,321 (GRCm39)	makesense	probably null
R0254:Svop	UTSW	5	114,176,600 (GRCm39)	missense	probably benign
R1705:Svop	UTSW	5	114,180,356 (GRCm39)	missense	probably damaging	1.00
R1826:Svop	UTSW	5	114,198,117 (GRCm39)	critical splice donor site	probably null
R4494:Svop	UTSW	5	114,183,688 (GRCm39)	missense	probably damaging	0.99
R4575:Svop	UTSW	5	114,203,743 (GRCm39)	missense	probably damaging	1.00
R4576:Svop	UTSW	5	114,203,743 (GRCm39)	missense	probably damaging	1.00
R4578:Svop	UTSW	5	114,203,743 (GRCm39)	missense	probably damaging	1.00
R4725:Svop	UTSW	5	114,203,546 (GRCm39)	unclassified	probably benign
R5433:Svop	UTSW	5	114,198,186 (GRCm39)	missense	probably damaging	1.00
R5731:Svop	UTSW	5	114,198,124 (GRCm39)	missense	probably damaging	0.99
R5783:Svop	UTSW	5	114,202,996 (GRCm39)	missense	possibly damaging	0.73
R5889:Svop	UTSW	5	114,203,692 (GRCm39)	missense	probably benign	0.37
R8134:Svop	UTSW	5	114,180,992 (GRCm39)	missense	probably benign	0.01
R8433:Svop	UTSW	5	114,170,822 (GRCm39)	missense	probably benign	0.21
R8848:Svop	UTSW	5	114,183,687 (GRCm39)	missense
R8851:Svop	UTSW	5	114,192,557 (GRCm39)	missense	probably damaging	1.00
R8868:Svop	UTSW	5	114,170,854 (GRCm39)	missense	probably damaging	0.98
R8965:Svop	UTSW	5	114,173,271 (GRCm39)	missense	probably benign	0.01
R9109:Svop	UTSW	5	114,168,231 (GRCm39)	missense	probably benign	0.16
R9298:Svop	UTSW	5	114,168,231 (GRCm39)	missense	probably benign	0.16
R9715:Svop	UTSW	5	114,198,169 (GRCm39)	missense	probably benign	0.39
R9732:Svop	UTSW	5	114,201,142 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCCTCCAGTGCATAGGAC -3'
(R):5'- CCAGAGACTTGCTGCTTAAAGAAG -3'

Sequencing Primer
(F):5'- TGGAGCCTGGTGTACACAC -3'
(R):5'- TTAAAGAAGCCCACACAAATGAGAG -3'

Posted On

2015-02-05