Incidental Mutation 'IGL02744:Slc6a15'
ID306016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a15
Ensembl Gene ENSMUSG00000019894
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 15
Synonymsv7-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02744
Quality Score
Status
Chromosome10
Chromosomal Location103367783-103419377 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103418033 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 610 (E610V)
Ref Sequence ENSEMBL: ENSMUSP00000136676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636]
Predicted Effect probably benign
Transcript: ENSMUST00000074204
AA Change: E610V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: E610V

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179636
AA Change: E610V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: E610V

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased synaptosome transport activities but exhibit no behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 105,078,536 M89V unknown Het
Actl11 C A 9: 107,929,862 H461Q probably benign Het
Aox4 A T 1: 58,255,552 R973S possibly damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cep350 A T 1: 155,931,533 S713T probably damaging Het
Doxl2 A G 6: 48,975,315 E58G probably benign Het
Epha5 T C 5: 84,107,989 I458V probably benign Het
Galnt17 A G 5: 131,111,775 I168T probably damaging Het
Gli3 T C 13: 15,613,886 probably null Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm8206 T C 14: 6,022,488 I4V possibly damaging Het
Gm8906 C T 5: 11,505,373 T103I possibly damaging Het
Golga1 A G 2: 39,018,474 S713P probably damaging Het
Ing5 T C 1: 93,816,488 M172T probably damaging Het
Lyn A G 4: 3,738,808 T27A probably benign Het
Olfr1367 A G 13: 21,346,994 Y22C probably damaging Het
Pou5f1 T C 17: 35,509,414 V40A probably damaging Het
Pramef12 A T 4: 144,392,923 L358Q probably damaging Het
Prdm16 A G 4: 154,345,453 L353P probably damaging Het
Psg18 T A 7: 18,349,402 Q276L probably benign Het
Ralgapb A C 2: 158,446,151 Q369H probably damaging Het
Slc44a4 A G 17: 34,927,800 N300D probably damaging Het
Slc8a2 T C 7: 16,145,029 V480A possibly damaging Het
Spg7 T C 8: 123,093,661 F617S probably damaging Het
Srcap A G 7: 127,534,666 D863G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suox T C 10: 128,671,217 E314G probably benign Het
Tln2 T A 9: 67,229,376 K1276* probably null Het
Tmem72 A G 6: 116,695,490 L130P probably damaging Het
Ttll1 T C 15: 83,489,577 Y345C probably benign Het
Ush2a A T 1: 188,358,717 probably null Het
Xpo6 G A 7: 126,108,448 probably benign Het
Zc3h14 A T 12: 98,784,975 Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 M66K probably benign Het
Other mutations in Slc6a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Slc6a15 APN 10 103389141 missense probably benign
IGL01320:Slc6a15 APN 10 103404745 missense probably benign 0.00
IGL01924:Slc6a15 APN 10 103404825 splice site probably null
IGL02066:Slc6a15 APN 10 103416658 missense probably damaging 0.98
IGL02164:Slc6a15 APN 10 103418222 missense probably benign 0.01
IGL02551:Slc6a15 APN 10 103404275 splice site probably benign
R0028:Slc6a15 UTSW 10 103416680 missense probably benign 0.00
R0143:Slc6a15 UTSW 10 103418068 missense probably benign 0.02
R0158:Slc6a15 UTSW 10 103389347 splice site probably benign
R0165:Slc6a15 UTSW 10 103409809 missense probably null 0.04
R0349:Slc6a15 UTSW 10 103418225 missense probably benign 0.06
R0383:Slc6a15 UTSW 10 103418053 missense probably damaging 1.00
R0614:Slc6a15 UTSW 10 103404352 nonsense probably null
R0784:Slc6a15 UTSW 10 103416800 splice site probably benign
R0944:Slc6a15 UTSW 10 103409796 missense probably benign 0.01
R1795:Slc6a15 UTSW 10 103400260 missense probably benign
R1882:Slc6a15 UTSW 10 103395064 missense probably benign 0.20
R2061:Slc6a15 UTSW 10 103409734 missense probably benign 0.20
R2156:Slc6a15 UTSW 10 103393408 missense probably damaging 1.00
R2358:Slc6a15 UTSW 10 103416785 missense probably benign 0.00
R2849:Slc6a15 UTSW 10 103404691 missense probably benign 0.01
R2921:Slc6a15 UTSW 10 103418387 missense probably damaging 0.99
R3709:Slc6a15 UTSW 10 103393414 missense probably benign 0.00
R4532:Slc6a15 UTSW 10 103409787 missense possibly damaging 0.69
R4825:Slc6a15 UTSW 10 103418060 missense probably benign 0.05
R4909:Slc6a15 UTSW 10 103404414 missense probably damaging 1.00
R5112:Slc6a15 UTSW 10 103389226 missense probably benign
R5320:Slc6a15 UTSW 10 103408206 missense probably damaging 1.00
R5364:Slc6a15 UTSW 10 103393508 missense probably damaging 0.99
R6305:Slc6a15 UTSW 10 103389170 missense probably benign 0.31
R6348:Slc6a15 UTSW 10 103404367 missense probably damaging 1.00
R6729:Slc6a15 UTSW 10 103393914 missense probably damaging 0.99
R6781:Slc6a15 UTSW 10 103395067 missense probably damaging 0.99
Posted On2015-04-16