Incidental Mutation 'R5162:Slc38a6'
ID 397069
Institutional Source Beutler Lab
Gene Symbol Slc38a6
Ensembl Gene ENSMUSG00000044712
Gene Name solute carrier family 38, member 6
Synonyms EG625098
MMRRC Submission 042744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R5162 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 73333553-73400823 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73376759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 138 (S138T)
Ref Sequence ENSEMBL: ENSMUSP00000120810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000140523]
AlphaFold G3UVW3
Predicted Effect probably benign
Transcript: ENSMUST00000058139
SMART Domains Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712

DomainStartEndE-ValueType
Pfam:Aa_trans 44 122 9.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134247
Predicted Effect possibly damaging
Transcript: ENSMUST00000140523
AA Change: S138T

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
AA Change: S138T

DomainStartEndE-ValueType
Pfam:Aa_trans 44 452 2.5e-77 PFAM
Meta Mutation Damage Score 0.1941 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,056,301 (GRCm39) T229S probably benign Het
Adrb3 T C 8: 27,717,348 (GRCm39) E367G probably benign Het
Ak9 T A 10: 41,233,653 (GRCm39) N630K probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Cry1 T A 10: 84,969,150 (GRCm39) H558L probably benign Het
Cstdc3 A T 16: 36,132,918 (GRCm39) H65L probably damaging Het
Cyp3a57 T A 5: 145,305,893 (GRCm39) W126R probably damaging Het
Dhx36 A T 3: 62,401,201 (GRCm39) V355E probably damaging Het
Dpp6 A G 5: 27,604,013 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,767,509 (GRCm39) P135T probably damaging Het
Enpp2 T C 15: 54,710,692 (GRCm39) D694G probably benign Het
Esrp2 T C 8: 106,859,930 (GRCm39) E336G probably damaging Het
Faah A T 4: 115,857,938 (GRCm39) probably benign Het
Fat1 G A 8: 45,478,846 (GRCm39) G2608R probably benign Het
Fbxo8 A T 8: 57,022,354 (GRCm39) Y122F probably damaging Het
Fgd5 A G 6: 92,051,215 (GRCm39) D1497G probably damaging Het
Fn3krp T C 11: 121,320,410 (GRCm39) F252L probably damaging Het
Fnip2 T C 3: 79,389,084 (GRCm39) Y549C probably damaging Het
Gcm2 T C 13: 41,257,131 (GRCm39) N206S probably benign Het
Grn C A 11: 102,321,380 (GRCm39) probably benign Het
H2-T10 T A 17: 36,429,843 (GRCm39) probably null Het
Henmt1 T C 3: 108,847,366 (GRCm39) probably null Het
Man1b1 T A 2: 25,233,365 (GRCm39) L246Q probably damaging Het
Mdh2 T C 5: 135,812,329 (GRCm39) probably null Het
Mocos T C 18: 24,787,109 (GRCm39) F43L probably damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Naip5 T A 13: 100,359,914 (GRCm39) I441F possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nars2 T C 7: 96,709,027 (GRCm39) probably benign Het
Ncoa2 A T 1: 13,245,396 (GRCm39) M434K possibly damaging Het
Nlrp4g T A 9: 124,350,394 (GRCm38) noncoding transcript Het
Or14j8 T A 17: 38,263,255 (GRCm39) Q220L probably benign Het
Or9a2 G T 6: 41,748,706 (GRCm39) H176N possibly damaging Het
Pals2 T A 6: 50,155,495 (GRCm39) W259R probably damaging Het
Pars2 A G 4: 106,511,735 (GRCm39) T506A probably benign Het
Pkp2 T C 16: 16,078,200 (GRCm39) S481P probably damaging Het
Plod3 T C 5: 137,020,161 (GRCm39) W459R probably damaging Het
Pramel13 A T 4: 144,121,482 (GRCm39) L181M probably damaging Het
Prdm10 A T 9: 31,251,714 (GRCm39) I361F possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Raver2 T C 4: 100,959,921 (GRCm39) C134R probably damaging Het
Rnf130 G C 11: 49,943,722 (GRCm39) A123P probably damaging Het
Slc29a4 G A 5: 142,707,207 (GRCm39) A517T possibly damaging Het
Spred1 T C 2: 117,008,102 (GRCm39) V336A possibly damaging Het
Sptlc3 T A 2: 139,473,263 (GRCm39) M504K probably benign Het
Syt11 T C 3: 88,655,149 (GRCm39) D78G probably damaging Het
Trim23 C T 13: 104,317,682 (GRCm39) T61I probably damaging Het
Tsg101 T C 7: 46,542,174 (GRCm39) T260A probably damaging Het
Tyw5 T C 1: 57,440,618 (GRCm39) Y48C probably damaging Het
Utp25 G T 1: 192,796,089 (GRCm39) T192K probably damaging Het
Vmn1r17 A G 6: 57,337,828 (GRCm39) V130A probably benign Het
Vmn2r89 C A 14: 51,693,620 (GRCm39) H323Q possibly damaging Het
Vps18 A G 2: 119,123,423 (GRCm39) S117G probably benign Het
Zfp93 C G 7: 23,975,757 (GRCm39) Q581E probably damaging Het
Other mutations in Slc38a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc38a6 APN 12 73,398,577 (GRCm39) missense probably benign 0.00
IGL01083:Slc38a6 APN 12 73,335,267 (GRCm39) missense possibly damaging 0.94
IGL01302:Slc38a6 APN 12 73,335,299 (GRCm39) critical splice donor site probably null
IGL02106:Slc38a6 APN 12 73,397,320 (GRCm39) missense possibly damaging 0.84
IGL02429:Slc38a6 APN 12 73,397,342 (GRCm39) missense probably benign 0.18
IGL02815:Slc38a6 APN 12 73,338,979 (GRCm39) missense probably damaging 1.00
IGL03001:Slc38a6 APN 12 73,383,827 (GRCm39) missense probably benign 0.03
IGL03167:Slc38a6 APN 12 73,397,311 (GRCm39) nonsense probably null
R0394:Slc38a6 UTSW 12 73,399,304 (GRCm39) missense probably benign
R0918:Slc38a6 UTSW 12 73,391,559 (GRCm39) splice site probably null
R1377:Slc38a6 UTSW 12 73,397,345 (GRCm39) missense probably damaging 0.98
R1533:Slc38a6 UTSW 12 73,391,626 (GRCm39) missense probably benign 0.11
R4171:Slc38a6 UTSW 12 73,397,326 (GRCm39) missense probably benign 0.21
R4579:Slc38a6 UTSW 12 73,335,298 (GRCm39) critical splice donor site probably null
R4864:Slc38a6 UTSW 12 73,390,424 (GRCm39) splice site probably null
R5627:Slc38a6 UTSW 12 73,390,457 (GRCm39) missense possibly damaging 0.59
R6189:Slc38a6 UTSW 12 73,356,970 (GRCm39) missense probably damaging 1.00
R6302:Slc38a6 UTSW 12 73,383,849 (GRCm39) missense probably damaging 1.00
R6407:Slc38a6 UTSW 12 73,356,949 (GRCm39) missense probably damaging 1.00
R7289:Slc38a6 UTSW 12 73,333,786 (GRCm39) missense probably benign
R7462:Slc38a6 UTSW 12 73,397,351 (GRCm39) missense probably benign 0.15
R8031:Slc38a6 UTSW 12 73,397,377 (GRCm39) missense probably benign 0.39
R8074:Slc38a6 UTSW 12 73,391,658 (GRCm39) missense possibly damaging 0.84
R9091:Slc38a6 UTSW 12 73,398,544 (GRCm39) missense probably benign 0.01
R9190:Slc38a6 UTSW 12 73,388,526 (GRCm39) missense possibly damaging 0.84
R9270:Slc38a6 UTSW 12 73,398,544 (GRCm39) missense probably benign 0.01
R9406:Slc38a6 UTSW 12 73,376,767 (GRCm39) nonsense probably null
R9587:Slc38a6 UTSW 12 73,388,513 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GCCGATTCTTCTCTACAGAGCC -3'
(R):5'- CCTGAGGCTAAGCACTACATTG -3'

Sequencing Primer
(F):5'- TCTACAGAGCCATTTACCTTGC -3'
(R):5'- CCTCCCTCGACACTAGGTTTTAG -3'
Posted On 2016-06-21