Incidental Mutation 'IGL03249:Svopl'
ID414515
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svopl
Ensembl Gene ENSMUSG00000029830
Gene NameSV2 related protein homolog (rat)-like
Synonyms9430071P14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03249
Quality Score
Status
Chromosome6
Chromosomal Location37983739-38046996 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38017053 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 348 (T348A)
Ref Sequence ENSEMBL: ENSMUSP00000093743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096040]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000040486
Predicted Effect probably benign
Transcript: ENSMUST00000096040
AA Change: T348A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093743
Gene: ENSMUSG00000029830
AA Change: T348A

DomainStartEndE-ValueType
Pfam:Sugar_tr 17 297 5.5e-20 PFAM
Pfam:MFS_1 50 308 2.1e-20 PFAM
transmembrane domain 349 371 N/A INTRINSIC
transmembrane domain 384 406 N/A INTRINSIC
transmembrane domain 459 481 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200796
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a member of solute carrier family 22, which includes transmembrane proteins that transport toxins and drugs from the body. This gene is a paralog of the SVOP gene that encodes synaptic vesicle 2-related protein. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik A G 7: 44,250,725 Y18C probably damaging Het
Abcc4 A G 14: 118,627,706 probably benign Het
Acnat2 T C 4: 49,381,787 K202E probably benign Het
Arid2 A T 15: 96,401,965 R1786S probably damaging Het
Atp2a1 C T 7: 126,462,805 E40K probably benign Het
Cdc23 A G 18: 34,644,016 probably benign Het
Ctnnd2 A G 15: 30,683,236 D461G probably benign Het
Galntl6 G T 8: 57,777,176 probably benign Het
Gcc2 T A 10: 58,270,992 Y583* probably null Het
Olfr740 T C 14: 50,453,211 V53A probably damaging Het
Plekhg2 C A 7: 28,368,002 R281L probably damaging Het
Rbm27 A G 18: 42,301,747 D292G probably damaging Het
Ryr3 A T 2: 112,640,656 M4594K probably benign Het
Sec22a T C 16: 35,347,763 Y126C probably damaging Het
Svs1 A T 6: 48,988,369 H437L probably benign Het
Tecta T C 9: 42,391,886 E150G probably benign Het
Ttc8 T G 12: 98,943,821 probably benign Het
Zfp51 T A 17: 21,463,439 N105K probably damaging Het
Other mutations in Svopl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Svopl APN 6 38031017 critical splice donor site probably null
IGL01531:Svopl APN 6 38026941 splice site probably benign
IGL02161:Svopl APN 6 38036815 splice site probably benign
IGL02554:Svopl APN 6 38017043 missense probably damaging 0.99
PIT4434001:Svopl UTSW 6 38014866 missense possibly damaging 0.85
R0285:Svopl UTSW 6 37984522 missense probably benign 0.02
R0423:Svopl UTSW 6 38036707 splice site probably benign
R0692:Svopl UTSW 6 38017196 missense probably damaging 1.00
R0960:Svopl UTSW 6 38017057 nonsense probably null
R1163:Svopl UTSW 6 38029700 missense possibly damaging 0.89
R1526:Svopl UTSW 6 38029635 missense probably benign 0.03
R2295:Svopl UTSW 6 38019733 missense possibly damaging 0.52
R2302:Svopl UTSW 6 38041166 splice site probably benign
R5933:Svopl UTSW 6 38017014 splice site probably benign
R6367:Svopl UTSW 6 38019679 missense possibly damaging 0.88
R6595:Svopl UTSW 6 38041067 splice site probably null
R6903:Svopl UTSW 6 38021608 missense probably benign 0.00
Posted On2016-08-02