Incidental Mutation 'R0614:Slc6a15'
ID 54958
Institutional Source Beutler Lab
Gene Symbol Slc6a15
Ensembl Gene ENSMUSG00000019894
Gene Name solute carrier family 6 (neurotransmitter transporter), member 15
Synonyms v7-3
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 103203644-103255238 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 103240213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 312 (L312*)
Ref Sequence ENSEMBL: ENSMUSP00000136676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074204] [ENSMUST00000179636]
AlphaFold Q8BG16
Predicted Effect probably null
Transcript: ENSMUST00000074204
AA Change: L312*
SMART Domains Protein: ENSMUSP00000073829
Gene: ENSMUSG00000019894
AA Change: L312*

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179636
AA Change: L312*
SMART Domains Protein: ENSMUSP00000136676
Gene: ENSMUSG00000019894
AA Change: L312*

DomainStartEndE-ValueType
low complexity region 29 38 N/A INTRINSIC
Pfam:SNF 61 644 2.2e-229 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Mvd T C 8: 123,163,292 (GRCm39) I313V probably benign Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V probably benign 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
IGL02164:Slc6a15 APN 10 103,254,083 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- AGTGGCAGTCGAATCCTACCAATTACA -3'
(R):5'- ATTGGCTTTGAACCCCAGAACTGCAA -3'

Sequencing Primer
(F):5'- AAGGGCTTGATAGATACTGTTTCC -3'
(R):5'- AACACCACCAGTGTTGCC -3'
Posted On 2013-07-11