Incidental Mutation 'R2077:Slc6a19'
ID 229235
Institutional Source Beutler Lab
Gene Symbol Slc6a19
Ensembl Gene ENSMUSG00000021565
Gene Name solute carrier family 6 (neurotransmitter transporter), member 19
Synonyms B<0>AT1, 4632401C08Rik
MMRRC Submission 040082-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2077 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73827864-73848899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73848685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 23 (V23A)
Ref Sequence ENSEMBL: ENSMUSP00000119313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000124406]
AlphaFold Q9D687
Predicted Effect probably benign
Transcript: ENSMUST00000022048
AA Change: V23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: V23A

DomainStartEndE-ValueType
Pfam:SNF 32 608 2.3e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000022049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123997
Predicted Effect probably benign
Transcript: ENSMUST00000124406
AA Change: V23A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565
AA Change: V23A

DomainStartEndE-ValueType
Pfam:SNF 32 79 1.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160958
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and impaired amino acid absorption and excretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T A 4: 144,183,604 (GRCm39) probably benign Het
Abhd16b A C 2: 181,135,209 (GRCm39) D37A probably benign Het
Acp7 T C 7: 28,328,907 (GRCm39) E91G probably damaging Het
Alms1 T A 6: 85,599,291 (GRCm39) N1841K possibly damaging Het
Arhgap25 T A 6: 87,436,990 (GRCm39) D620V probably damaging Het
Caps2 C T 10: 112,035,632 (GRCm39) T371I possibly damaging Het
Ccdc175 A G 12: 72,186,794 (GRCm39) I350T possibly damaging Het
Cdc25c G C 18: 34,871,292 (GRCm39) L275V probably damaging Het
Cdc42bpb A G 12: 111,265,630 (GRCm39) L1434P probably damaging Het
Cdkl3 A T 11: 51,917,666 (GRCm39) E321V probably damaging Het
Clec2d G T 6: 129,160,153 (GRCm39) V56L possibly damaging Het
Cops3 A T 11: 59,715,136 (GRCm39) S301T possibly damaging Het
Crygd T C 1: 65,102,405 (GRCm39) D19G probably damaging Het
Dnah2 T C 11: 69,387,432 (GRCm39) I931M possibly damaging Het
Dst A T 1: 34,250,251 (GRCm39) R4068S probably damaging Het
Fas C T 19: 34,297,953 (GRCm39) probably benign Het
G6pd2 T A 5: 61,967,594 (GRCm39) D456E probably damaging Het
Galnt18 G A 7: 111,153,809 (GRCm39) R272W probably damaging Het
Grb2 C A 11: 115,536,651 (GRCm39) G200W probably damaging Het
Herc4 A G 10: 63,099,832 (GRCm39) N85S probably benign Het
Ighv7-2 T C 12: 113,875,727 (GRCm39) D92G probably damaging Het
Itih3 A G 14: 30,631,792 (GRCm39) V765A possibly damaging Het
Itm2b T C 14: 73,600,560 (GRCm39) N247D probably benign Het
Kcnd3 T C 3: 105,574,315 (GRCm39) V500A probably benign Het
Lrp2 C T 2: 69,338,187 (GRCm39) G1198R probably damaging Het
Ltb4r2 A G 14: 55,999,444 (GRCm39) T22A probably damaging Het
Mdga2 A G 12: 66,702,136 (GRCm39) V355A probably damaging Het
Megf8 T A 7: 25,053,163 (GRCm39) V1778E probably benign Het
Mroh2b G A 15: 4,974,448 (GRCm39) E1143K probably damaging Het
Nbn A T 4: 15,979,389 (GRCm39) Y458F probably damaging Het
Nlrc3 A G 16: 3,781,856 (GRCm39) C534R probably benign Het
Nup155 A G 15: 8,172,510 (GRCm39) E832G probably damaging Het
Or5w11 A G 2: 87,459,173 (GRCm39) Y122C probably damaging Het
Plcl2 A G 17: 50,913,857 (GRCm39) T289A probably benign Het
Ptprs C T 17: 56,741,990 (GRCm39) R7Q probably null Het
Rab3ip A T 10: 116,754,865 (GRCm39) D198E possibly damaging Het
Scaf4 A T 16: 90,049,323 (GRCm39) F255I unknown Het
Senp6 T C 9: 80,033,437 (GRCm39) S475P probably benign Het
Shpk T C 11: 73,094,785 (GRCm39) L67P probably damaging Het
Sik3 T A 9: 46,130,801 (GRCm39) Y1246N probably damaging Het
Slc44a2 A G 9: 21,265,020 (GRCm39) Y686C probably damaging Het
Slit3 A T 11: 35,435,575 (GRCm39) I169F possibly damaging Het
Stxbp5l A G 16: 37,056,637 (GRCm39) V379A possibly damaging Het
Tex2 T C 11: 106,397,690 (GRCm39) probably null Het
Tnpo3 A G 6: 29,586,143 (GRCm39) V149A possibly damaging Het
Vmn1r158 T A 7: 22,489,815 (GRCm39) R131S probably benign Het
Vmn2r24 T A 6: 123,792,358 (GRCm39) C562S probably damaging Het
Wipi1 T C 11: 109,468,490 (GRCm39) N368S probably benign Het
Zbtb41 T C 1: 139,351,831 (GRCm39) S315P probably damaging Het
Other mutations in Slc6a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Slc6a19 APN 13 73,848,709 (GRCm39) missense probably damaging 1.00
IGL02425:Slc6a19 APN 13 73,839,919 (GRCm39) missense probably benign 0.00
IGL03030:Slc6a19 APN 13 73,848,590 (GRCm39) missense probably damaging 1.00
IGL03067:Slc6a19 APN 13 73,837,849 (GRCm39) nonsense probably null
IGL03216:Slc6a19 APN 13 73,834,300 (GRCm39) missense probably benign
IGL03330:Slc6a19 APN 13 73,837,679 (GRCm39) missense possibly damaging 0.95
momentum UTSW 13 73,829,836 (GRCm39) missense probably damaging 0.98
rifling UTSW 13 73,833,959 (GRCm39) nonsense probably null
H8562:Slc6a19 UTSW 13 73,848,243 (GRCm39) intron probably benign
R0107:Slc6a19 UTSW 13 73,832,176 (GRCm39) missense possibly damaging 0.93
R0446:Slc6a19 UTSW 13 73,839,814 (GRCm39) missense probably benign 0.01
R1422:Slc6a19 UTSW 13 73,833,988 (GRCm39) missense probably benign 0.05
R1443:Slc6a19 UTSW 13 73,832,463 (GRCm39) missense probably damaging 1.00
R1501:Slc6a19 UTSW 13 73,832,167 (GRCm39) missense probably benign 0.08
R1564:Slc6a19 UTSW 13 73,834,243 (GRCm39) missense probably damaging 1.00
R1632:Slc6a19 UTSW 13 73,838,027 (GRCm39) splice site probably null
R1832:Slc6a19 UTSW 13 73,841,069 (GRCm39) missense probably benign
R4418:Slc6a19 UTSW 13 73,832,514 (GRCm39) missense possibly damaging 0.93
R4486:Slc6a19 UTSW 13 73,829,836 (GRCm39) missense probably damaging 0.98
R4510:Slc6a19 UTSW 13 73,832,094 (GRCm39) missense probably damaging 1.00
R4511:Slc6a19 UTSW 13 73,832,094 (GRCm39) missense probably damaging 1.00
R4803:Slc6a19 UTSW 13 73,832,161 (GRCm39) missense possibly damaging 0.91
R4965:Slc6a19 UTSW 13 73,848,677 (GRCm39) missense probably benign 0.00
R4988:Slc6a19 UTSW 13 73,833,959 (GRCm39) nonsense probably null
R5085:Slc6a19 UTSW 13 73,839,872 (GRCm39) missense probably benign 0.11
R5533:Slc6a19 UTSW 13 73,833,948 (GRCm39) missense possibly damaging 0.67
R5851:Slc6a19 UTSW 13 73,839,859 (GRCm39) missense possibly damaging 0.55
R5874:Slc6a19 UTSW 13 73,832,487 (GRCm39) missense probably damaging 0.98
R6074:Slc6a19 UTSW 13 73,837,882 (GRCm39) missense probably benign 0.00
R6608:Slc6a19 UTSW 13 73,832,091 (GRCm39) missense probably damaging 1.00
R7275:Slc6a19 UTSW 13 73,834,197 (GRCm39) missense probably benign 0.11
R7386:Slc6a19 UTSW 13 73,838,010 (GRCm39) missense possibly damaging 0.91
R7388:Slc6a19 UTSW 13 73,841,203 (GRCm39) missense probably benign 0.30
R7393:Slc6a19 UTSW 13 73,841,093 (GRCm39) missense probably benign 0.00
R7832:Slc6a19 UTSW 13 73,841,182 (GRCm39) missense probably damaging 0.99
R7900:Slc6a19 UTSW 13 73,848,583 (GRCm39) missense probably damaging 1.00
R8220:Slc6a19 UTSW 13 73,833,889 (GRCm39) missense probably damaging 1.00
R8713:Slc6a19 UTSW 13 73,848,740 (GRCm39) missense probably benign 0.19
R8977:Slc6a19 UTSW 13 73,830,269 (GRCm39) missense probably benign
R9457:Slc6a19 UTSW 13 73,829,884 (GRCm39) missense probably damaging 0.98
R9569:Slc6a19 UTSW 13 73,834,030 (GRCm39) missense probably benign 0.00
R9662:Slc6a19 UTSW 13 73,839,822 (GRCm39) nonsense probably null
Z1088:Slc6a19 UTSW 13 73,837,849 (GRCm39) missense possibly damaging 0.82
Z1177:Slc6a19 UTSW 13 73,832,377 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- ACATCCATCCATGTCCTTGG -3'
(R):5'- TTGAGGTGCCAAAGGTTCTC -3'

Sequencing Primer
(F):5'- AGGAGTGCTATAGCTTCCACC -3'
(R):5'- GGTGCCAAAGGTTCTCTATAAAG -3'
Posted On 2014-09-17