Mutagenetix > Incidental Mutation

Incidental Mutation 'R8965:Svop'

682669

Institutional Source

Beutler Lab

Gene Symbol

Svop

Ensembl Gene

ENSMUSG00000042078

Gene Name

SV2 related protein

Synonyms

1110030H18Rik, msvop

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114026910-114091570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114035210 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 367 (Y367H)

Ref Sequence

ENSEMBL: ENSMUSP00000050730 (fasta)

Gene Model

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

AlphaFold

Q8BFT9

Predicted Effect

probably benign
Transcript: ENSMUST00000058472
AA Change: Y367H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
AA Change: Y367H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,612,604	I1260K	probably benign	Het
Ace3	G	T	11: 106,005,349	C707F	probably benign	Het
Ahi1	A	G	10: 20,963,862	H224R	probably benign	Het
Atp1a2	T	C	1: 172,280,045	D669G	probably benign	Het
Cdk5rap2	A	C	4: 70,266,805	V1136G	probably benign	Het
Cntnap4	T	A	8: 112,753,014	V277E	probably damaging	Het
Cyp2d12	T	C	15: 82,558,985	L416P	possibly damaging	Het
Dnah17	T	G	11: 118,024,666	T4376P	probably damaging	Het
E4f1	C	T	17: 24,445,530	V429M	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Erich6	A	T	3: 58,624,317	D419E	probably benign	Het
Grid2	A	G	6: 64,320,006	E451G	probably damaging	Het
Herpud1	T	C	8: 94,391,841	Y181H	probably damaging	Het
Igkv2-109	A	T	6: 68,303,128	Y111F	probably damaging	Het
Lztr1	T	C	16: 17,509,432		probably null	Het
Myh13	A	T	11: 67,364,606	M1601L	probably benign	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Olfr1115	A	T	2: 87,252,557	I207F	possibly damaging	Het
Olfr1364	T	C	13: 21,574,217	T80A	probably benign	Het
Olfr472	T	C	7: 107,903,107	L130P	probably damaging	Het
P2rx1	T	C	11: 73,009,225	V156A	probably benign	Het
P3h2	T	C	16: 25,972,384	N444S	probably benign	Het
Patz1	T	C	11: 3,307,815	Y559H	probably damaging	Het
Pcna	T	C	2: 132,252,849	D63G	possibly damaging	Het
Pcnx2	G	A	8: 125,759,114	A1915V	probably benign	Het
Peli1	T	C	11: 21,148,488	Y408H	probably damaging	Het
Psma5	T	A	3: 108,265,194		probably null	Het
Ptpn11	G	A	5: 121,163,166	T205M	possibly damaging	Het
Rapgef2	A	G	3: 79,092,544	L453P	probably damaging	Het
Slc12a4	A	G	8: 105,945,350	V910A	possibly damaging	Het
Spaca6	A	G	17: 17,838,456	T306A	probably damaging	Het
Spata6	T	A	4: 111,822,812	Y422*	probably null	Het
Tcrg-V3	T	A	13: 19,243,010	L21Q	probably damaging	Het
Trim38	T	C	13: 23,791,023	L315S	possibly damaging	Het
Ttc12	A	G	9: 49,438,418	V693A	probably benign	Het
Usp20	T	A	2: 31,011,785	Y521N	possibly damaging	Het
Vcam1	T	A	3: 116,128,773	K34*	probably null	Het
Vwa1	A	T	4: 155,772,983	Y119*	probably null	Het
Vwa5b2	A	G	16: 20,596,326	H366R	possibly damaging	Het
Wac	C	A	18: 7,905,936	Q168K	probably benign	Het
Wipf2	A	G	11: 98,892,671	S308G	probably benign	Het
Zbtb25	A	C	12: 76,349,803	I215S	probably benign	Het
Zfp677	T	C	17: 21,396,893	S71P	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
R4576: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
R8134:Svop	UTSW	5	114042931	missense	probably benign	0.01
R8433:Svop	UTSW	5	114032761	missense	probably benign	0.21
R8848:Svop	UTSW	5	114045626	missense
R8851:Svop	UTSW	5	114054496	missense	probably damaging	1.00
R8868:Svop	UTSW	5	114032793	missense	probably damaging	0.98
R9109:Svop	UTSW	5	114030170	missense	probably benign	0.16
R9298:Svop	UTSW	5	114030170	missense	probably benign	0.16
R9715:Svop	UTSW	5	114060108	missense	probably benign	0.39
R9732:Svop	UTSW	5	114063081	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTAGTCTTGCAACTGTGTGG -3'
(R):5'- TTTACGGTTGGCTACCCAGC -3'

Sequencing Primer
(F):5'- TAGCCTGCATGCAGAGTCCTAC -3'
(R):5'- GCCCATCGTTCACAGGCAAG -3'

Posted On

2021-10-11