Incidental Mutation 'IGL02164:Slc6a15'
ID 282594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a15
Ensembl Gene ENSMUSG00000019894
Gene Name solute carrier family 6 (neurotransmitter transporter), member 15
Synonyms v7-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02164
Quality Score
Status
Chromosome 10
Chromosomal Location 103203644-103255238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103254083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 673 (D673G)
Ref Sequence ENSEMBL: ENSMUSP00000136676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636]
AlphaFold Q8BG16
Predicted Effect probably benign
Transcript: ENSMUST00000074204
AA Change: D673G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: D673G

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: D673G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: D673G

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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik T A 5: 48,537,524 (GRCm39) V187E probably benign Het
Abcc12 T A 8: 87,254,033 (GRCm39) D917V probably damaging Het
Abhd15 A T 11: 77,406,840 (GRCm39) E272D probably benign Het
Adat3 T A 10: 80,442,461 (GRCm39) S100T probably benign Het
Adgrg6 T C 10: 14,399,299 (GRCm39) probably benign Het
Alpl C T 4: 137,481,290 (GRCm39) V121M probably damaging Het
Ano1 A T 7: 144,190,918 (GRCm39) Y388N possibly damaging Het
Arrdc4 C T 7: 68,389,285 (GRCm39) probably benign Het
Asxl2 A G 12: 3,552,079 (GRCm39) M1274V probably benign Het
Bmt2 G T 6: 13,628,878 (GRCm39) N268K possibly damaging Het
Bpifb2 C A 2: 153,725,482 (GRCm39) L176M probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cd14 T C 18: 36,858,838 (GRCm39) R206G possibly damaging Het
Cfap65 G T 1: 74,967,304 (GRCm39) T215K possibly damaging Het
Chd9 T C 8: 91,659,849 (GRCm39) S270P possibly damaging Het
Cidea C T 18: 67,499,581 (GRCm39) S156L probably damaging Het
Col5a3 A G 9: 20,703,939 (GRCm39) probably null Het
Cspg5 T C 9: 110,080,104 (GRCm39) V424A probably damaging Het
Ctc1 A G 11: 68,916,922 (GRCm39) H272R probably damaging Het
D5Ertd579e A T 5: 36,772,303 (GRCm39) S697R probably damaging Het
Dennd3 T C 15: 73,416,297 (GRCm39) S516P probably benign Het
Dipk2b T A X: 18,285,192 (GRCm39) R421* probably null Het
Dlgap4 G A 2: 156,553,059 (GRCm39) R509H probably damaging Het
Dus3l T C 17: 57,074,943 (GRCm39) probably benign Het
Dync1h1 G T 12: 110,628,993 (GRCm39) W4183C probably damaging Het
Eif2s3x A T X: 93,248,678 (GRCm39) M152K possibly damaging Het
Epb41l1 C T 2: 156,336,869 (GRCm39) probably benign Het
Ephx2 A G 14: 66,341,169 (GRCm39) probably benign Het
Fabp12 T A 3: 10,311,075 (GRCm39) Y129F probably damaging Het
Fat3 A G 9: 15,942,720 (GRCm39) probably benign Het
Fat4 T C 3: 39,050,354 (GRCm39) probably null Het
Gnb1 T A 4: 155,641,631 (GRCm39) probably null Het
Gpr107 C A 2: 31,068,298 (GRCm39) Y253* probably null Het
Grb10 C T 11: 11,893,962 (GRCm39) E320K probably damaging Het
Gucy2g G T 19: 55,226,455 (GRCm39) H154N probably benign Het
H2bl1 T C 13: 99,120,715 (GRCm39) K104E probably damaging Het
Hemk1 T A 9: 107,208,735 (GRCm39) H154L probably benign Het
Hk2 A T 6: 82,720,920 (GRCm39) probably null Het
Htr5a A G 5: 28,047,463 (GRCm39) N6S probably damaging Het
Htra3 T C 5: 35,810,410 (GRCm39) D424G probably benign Het
Ift52 A G 2: 162,867,384 (GRCm39) probably null Het
Igdcc4 A G 9: 65,032,064 (GRCm39) probably benign Het
Itpr1 A G 6: 108,366,444 (GRCm39) K124E probably benign Het
Kcnc2 T A 10: 112,291,590 (GRCm39) N259K possibly damaging Het
Kics2 A G 10: 121,586,675 (GRCm39) Y194C probably damaging Het
Lmod2 A T 6: 24,603,909 (GRCm39) I295F possibly damaging Het
Lrp1 T C 10: 127,399,536 (GRCm39) E2324G probably benign Het
Lss T C 10: 76,372,094 (GRCm39) S150P probably damaging Het
Macf1 T C 4: 123,374,065 (GRCm39) N1515S probably benign Het
Mapk11 T C 15: 89,029,651 (GRCm39) probably null Het
Mc3r T A 2: 172,091,314 (GRCm39) F179I probably damaging Het
Mtmr9 T A 14: 63,767,737 (GRCm39) N291Y probably damaging Het
Myo1h T C 5: 114,472,157 (GRCm39) F396L probably damaging Het
Nek2 A G 1: 191,559,416 (GRCm39) K307R probably benign Het
Or12d2 C A 17: 37,624,578 (GRCm39) M232I probably benign Het
Osmr G A 15: 6,871,529 (GRCm39) T296I probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pfkp C T 13: 6,647,951 (GRCm39) V542M probably damaging Het
Pmpca C T 2: 26,285,581 (GRCm39) S519L probably benign Het
Ptgds A T 2: 25,359,124 (GRCm39) Y44N probably damaging Het
Raly T A 2: 154,701,849 (GRCm39) Y116* probably null Het
Rock2 A G 12: 17,015,530 (GRCm39) D809G probably damaging Het
Sgsm2 T G 11: 74,756,242 (GRCm39) N369T possibly damaging Het
Spire2 A T 8: 124,059,703 (GRCm39) D67V probably damaging Het
St7l T C 3: 104,829,597 (GRCm39) probably null Het
Stau2 A G 1: 16,416,052 (GRCm39) L469P probably damaging Het
Tefm A G 11: 80,030,915 (GRCm39) L107S probably damaging Het
Ticam1 A T 17: 56,577,019 (GRCm39) V692D unknown Het
Tipin T A 9: 64,201,631 (GRCm39) D143E probably damaging Het
Tmem132c C A 5: 127,613,441 (GRCm39) T448K probably damaging Het
Trav8-1 A T 14: 53,707,213 (GRCm39) M1L unknown Het
Ttn C A 2: 76,569,141 (GRCm39) V27251F probably damaging Het
Uvrag A T 7: 98,653,896 (GRCm39) C31* probably null Het
Zap70 T C 1: 36,810,267 (GRCm39) Y126H probably damaging Het
Zfp644 A G 5: 106,785,965 (GRCm39) V194A probably benign Het
Zfp663 C T 2: 165,200,968 (GRCm39) W22* probably null Het
Other mutations in Slc6a15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Slc6a15 APN 10 103,225,002 (GRCm39) missense probably benign
IGL01320:Slc6a15 APN 10 103,240,606 (GRCm39) missense probably benign 0.00
IGL01924:Slc6a15 APN 10 103,240,686 (GRCm39) splice site probably null
IGL02066:Slc6a15 APN 10 103,252,519 (GRCm39) missense probably damaging 0.98
IGL02551:Slc6a15 APN 10 103,240,136 (GRCm39) splice site probably benign
IGL02744:Slc6a15 APN 10 103,253,894 (GRCm39) missense probably benign 0.03
R0028:Slc6a15 UTSW 10 103,252,541 (GRCm39) missense probably benign 0.00
R0143:Slc6a15 UTSW 10 103,253,929 (GRCm39) missense probably benign 0.02
R0158:Slc6a15 UTSW 10 103,225,208 (GRCm39) splice site probably benign
R0165:Slc6a15 UTSW 10 103,245,670 (GRCm39) missense probably null 0.04
R0349:Slc6a15 UTSW 10 103,254,086 (GRCm39) missense probably benign 0.06
R0383:Slc6a15 UTSW 10 103,253,914 (GRCm39) missense probably damaging 1.00
R0614:Slc6a15 UTSW 10 103,240,213 (GRCm39) nonsense probably null
R0784:Slc6a15 UTSW 10 103,252,661 (GRCm39) splice site probably benign
R0944:Slc6a15 UTSW 10 103,245,657 (GRCm39) missense probably benign 0.01
R1795:Slc6a15 UTSW 10 103,236,121 (GRCm39) missense probably benign
R1882:Slc6a15 UTSW 10 103,230,925 (GRCm39) missense probably benign 0.20
R2061:Slc6a15 UTSW 10 103,245,595 (GRCm39) missense probably benign 0.20
R2156:Slc6a15 UTSW 10 103,229,269 (GRCm39) missense probably damaging 1.00
R2358:Slc6a15 UTSW 10 103,252,646 (GRCm39) missense probably benign 0.00
R2849:Slc6a15 UTSW 10 103,240,552 (GRCm39) missense probably benign 0.01
R2921:Slc6a15 UTSW 10 103,254,248 (GRCm39) missense probably damaging 0.99
R3709:Slc6a15 UTSW 10 103,229,275 (GRCm39) missense probably benign 0.00
R4532:Slc6a15 UTSW 10 103,245,648 (GRCm39) missense possibly damaging 0.69
R4825:Slc6a15 UTSW 10 103,253,921 (GRCm39) missense probably benign 0.05
R4909:Slc6a15 UTSW 10 103,240,275 (GRCm39) missense probably damaging 1.00
R5112:Slc6a15 UTSW 10 103,225,087 (GRCm39) missense probably benign
R5320:Slc6a15 UTSW 10 103,244,067 (GRCm39) missense probably damaging 1.00
R5364:Slc6a15 UTSW 10 103,229,369 (GRCm39) missense probably damaging 0.99
R6305:Slc6a15 UTSW 10 103,225,031 (GRCm39) missense probably benign 0.31
R6348:Slc6a15 UTSW 10 103,240,228 (GRCm39) missense probably damaging 1.00
R6729:Slc6a15 UTSW 10 103,229,775 (GRCm39) missense probably damaging 0.99
R6781:Slc6a15 UTSW 10 103,230,928 (GRCm39) missense probably damaging 0.99
R7409:Slc6a15 UTSW 10 103,244,163 (GRCm39) missense probably benign
R7549:Slc6a15 UTSW 10 103,224,998 (GRCm39) missense probably benign
R7660:Slc6a15 UTSW 10 103,229,241 (GRCm39) splice site probably null
R7839:Slc6a15 UTSW 10 103,240,660 (GRCm39) missense probably benign
R7948:Slc6a15 UTSW 10 103,240,156 (GRCm39) missense possibly damaging 0.95
R8278:Slc6a15 UTSW 10 103,229,890 (GRCm39) critical splice donor site probably null
R8379:Slc6a15 UTSW 10 103,225,048 (GRCm39) missense probably benign 0.00
R8685:Slc6a15 UTSW 10 103,245,556 (GRCm39) missense possibly damaging 0.68
R8712:Slc6a15 UTSW 10 103,225,112 (GRCm39) missense probably damaging 1.00
R8719:Slc6a15 UTSW 10 103,240,176 (GRCm39) missense probably damaging 0.99
R8832:Slc6a15 UTSW 10 103,225,179 (GRCm39) missense probably damaging 1.00
R8940:Slc6a15 UTSW 10 103,229,357 (GRCm39) missense probably damaging 1.00
R8978:Slc6a15 UTSW 10 103,230,953 (GRCm39) nonsense probably null
R9050:Slc6a15 UTSW 10 103,252,516 (GRCm39) missense possibly damaging 0.88
R9113:Slc6a15 UTSW 10 103,236,140 (GRCm39) missense probably damaging 1.00
R9242:Slc6a15 UTSW 10 103,229,406 (GRCm39) nonsense probably null
R9493:Slc6a15 UTSW 10 103,229,277 (GRCm39) missense probably benign 0.35
R9529:Slc6a15 UTSW 10 103,240,583 (GRCm39) missense probably benign 0.14
R9532:Slc6a15 UTSW 10 103,240,333 (GRCm39) missense probably damaging 0.98
RF013:Slc6a15 UTSW 10 103,236,077 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16