Incidental Mutation 'R1501:Slc6a19'
ID 169296
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 040867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1501 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 73827864-73848899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 73832167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 470 (A470S)
Ref Sequence ENSEMBL: ENSMUSP00000022048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048]
AlphaFold Q9D687
Predicted Effect probably benign
Transcript: ENSMUST00000022048
AA Change: A470S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: A470S

DomainStartEndE-ValueType
Pfam:SNF 32 608 2.3e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132085
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,750,787 (GRCm39) S533R probably benign Het
Amph C T 13: 19,288,461 (GRCm39) Q317* probably null Het
Bach2 A G 4: 32,562,279 (GRCm39) T249A possibly damaging Het
Cacna2d3 A G 14: 28,703,137 (GRCm39) C845R probably damaging Het
Calml4 A G 9: 62,778,622 (GRCm39) K12E probably benign Het
Chrd C T 16: 20,556,283 (GRCm39) R615W probably damaging Het
Chst15 T A 7: 131,870,798 (GRCm39) K246* probably null Het
Cmtr2 G A 8: 110,948,235 (GRCm39) D182N probably benign Het
Cyp2d9 C A 15: 82,338,525 (GRCm39) C186* probably null Het
Cyp3a13 G T 5: 137,909,892 (GRCm39) probably null Het
Dcaf17 A T 2: 70,912,332 (GRCm39) I320F probably damaging Het
Ddx10 T C 9: 53,145,297 (GRCm39) I227V possibly damaging Het
Dlc1 G T 8: 37,405,302 (GRCm39) N162K probably benign Het
Dnhd1 G A 7: 105,317,670 (GRCm39) R455H probably benign Het
Drg2 G T 11: 60,355,679 (GRCm39) A306S probably benign Het
Dsg1a A T 18: 20,465,076 (GRCm39) R422S probably damaging Het
Ehbp1l1 A G 19: 5,766,452 (GRCm39) V353A probably damaging Het
Emilin2 T C 17: 71,617,756 (GRCm39) S34G probably benign Het
Enpp2 C A 15: 54,702,910 (GRCm39) W862L probably damaging Het
Exoc2 T C 13: 31,119,485 (GRCm39) I139V probably benign Het
Fhad1 C T 4: 141,691,936 (GRCm39) R400H probably benign Het
Fv1 C T 4: 147,954,595 (GRCm39) T387M probably damaging Het
Gatad1 T A 5: 3,693,701 (GRCm39) D156V probably damaging Het
Gm4744 A G 6: 40,927,367 (GRCm39) probably benign Het
Gm4799 G A 10: 82,790,469 (GRCm39) noncoding transcript Het
Hadha A G 5: 30,333,804 (GRCm39) F405S probably benign Het
Ifit3 T C 19: 34,565,651 (GRCm39) V399A probably benign Het
Il1rapl1 G T X: 86,348,469 (GRCm39) Y150* probably null Het
Kirrel1 T C 3: 86,997,779 (GRCm39) E248G probably benign Het
Krt72 C A 15: 101,686,769 (GRCm39) K392N probably damaging Het
Loxhd1 G A 18: 77,444,528 (GRCm39) G309D probably damaging Het
Mc3r T G 2: 172,091,300 (GRCm39) I174S probably benign Het
Me3 A G 7: 89,282,273 (GRCm39) D52G probably benign Het
Med12l T C 3: 59,168,256 (GRCm39) probably null Het
Mgat5 G A 1: 127,325,378 (GRCm39) probably null Het
Mphosph10 A T 7: 64,039,252 (GRCm39) F239L probably damaging Het
Mrps7 T C 11: 115,495,023 (GRCm39) S13P probably benign Het
Nexn T C 3: 151,943,323 (GRCm39) T527A possibly damaging Het
Nlrp1b G A 11: 71,046,885 (GRCm39) H1156Y probably damaging Het
Nostrin A G 2: 68,989,129 (GRCm39) E120G probably damaging Het
Nsun2 A G 13: 69,779,706 (GRCm39) E624G probably damaging Het
Oga T C 19: 45,767,079 (GRCm39) D99G probably null Het
Or4c102 G A 2: 88,422,492 (GRCm39) V115I possibly damaging Het
Or4k2 A G 14: 50,424,539 (GRCm39) I45T probably damaging Het
Or52n4b G A 7: 108,143,782 (GRCm39) V15I probably benign Het
Or5p70 A C 7: 107,995,289 (GRCm39) K321Q probably benign Het
Phldb2 T C 16: 45,598,146 (GRCm39) N802S probably damaging Het
Pik3c2g T C 6: 139,789,796 (GRCm39) probably null Het
Pikfyve T A 1: 65,304,443 (GRCm39) I1670N possibly damaging Het
Pld5 A G 1: 175,803,087 (GRCm39) F393L probably benign Het
Plekhg1 C A 10: 3,907,361 (GRCm39) D759E probably benign Het
Plekhm1 A G 11: 103,277,888 (GRCm39) S403P probably benign Het
Pop1 T C 15: 34,510,503 (GRCm39) F432L probably benign Het
Ptpn13 T C 5: 103,664,230 (GRCm39) I406T probably benign Het
Ptpn5 G T 7: 46,739,623 (GRCm39) D185E probably benign Het
Rad50 G T 11: 53,578,978 (GRCm39) Q527K possibly damaging Het
Scn7a A G 2: 66,530,507 (GRCm39) F613L probably benign Het
Sec16a T A 2: 26,330,057 (GRCm39) M653L probably benign Het
Sh3bp2 T C 5: 34,712,920 (GRCm39) probably null Het
Slc22a3 G A 17: 12,725,991 (GRCm39) T74I probably benign Het
Slc23a4 A G 6: 34,932,057 (GRCm39) L272P probably damaging Het
Slc26a8 T C 17: 28,857,536 (GRCm39) D869G possibly damaging Het
Slc5a11 T A 7: 122,859,731 (GRCm39) V291E probably damaging Het
Slfn8 A G 11: 82,894,006 (GRCm39) S878P probably damaging Het
Smchd1 A G 17: 71,672,089 (GRCm39) M1655T possibly damaging Het
Srgap2 A G 1: 131,220,437 (GRCm39) L179P probably damaging Het
Tbx2 A G 11: 85,725,622 (GRCm39) D191G probably damaging Het
Tenm3 A G 8: 48,796,351 (GRCm39) Y485H probably damaging Het
Trim12c T A 7: 103,990,095 (GRCm39) probably benign Het
Trpc6 A G 9: 8,610,170 (GRCm39) T213A probably damaging Het
Upp1 T A 11: 9,084,708 (GRCm39) probably null Het
Vmn1r46 A T 6: 89,953,198 (GRCm39) I16L probably benign Het
Vmn2r75 A T 7: 85,814,850 (GRCm39) D214E possibly damaging Het
Vmn2r95 T A 17: 18,660,118 (GRCm39) Y177N probably damaging Het
Vmn2r99 T G 17: 19,582,521 (GRCm39) I42S possibly damaging Het
Zeb1 A T 18: 5,761,399 (GRCm39) K232N possibly damaging Het
Zfp280b T C 10: 75,875,603 (GRCm39) I494T probably damaging Het
Zfp804a A G 2: 82,066,143 (GRCm39) D38G 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
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
R2077:Slc6a19 UTSW 13 73,848,685 (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'- GAAGGAAGTCTCCACTCTCTTGTGC -3'
(R):5'- ACGGAAGCCATCACGAAGATGC -3'

Sequencing Primer
(F):5'- GGCTCAGCTTACCAAAGATTCTG -3'
(R):5'- TCACGAAGATGCCAGTGTCC -3'
Posted On 2014-04-13