Incidental Mutation 'R5874:Slc6a19'
ID 455411
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 044081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R5874 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 73827864-73848899 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73832487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 402 (V402D)
Ref Sequence ENSEMBL: ENSMUSP00000022048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048]
AlphaFold Q9D687
Predicted Effect probably damaging
Transcript: ENSMUST00000022048
AA Change: V402D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: V402D

DomainStartEndE-ValueType
Pfam:SNF 32 608 2.3e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132085
Meta Mutation Damage Score 0.9429 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency 98% (86/88)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik G A 7: 29,280,610 (GRCm39) noncoding transcript Het
Adam17 T C 12: 21,379,087 (GRCm39) D654G possibly damaging Het
Ankhd1 A T 18: 36,773,322 (GRCm39) H1373L possibly damaging Het
Ankrd17 T C 5: 90,416,656 (GRCm39) probably benign Het
Calu A G 6: 29,372,617 (GRCm39) D112G probably damaging Het
Camk2a G C 18: 61,076,272 (GRCm39) probably benign Het
Cpn1 C A 19: 43,944,951 (GRCm39) R452L probably benign Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Ctnna2 T C 6: 76,879,413 (GRCm39) T824A probably benign Het
Cuedc2 C T 19: 46,319,824 (GRCm39) V164M possibly damaging Het
Cyp2d34 T A 15: 82,503,243 (GRCm39) D74V probably benign Het
Ddi2 A G 4: 141,422,780 (GRCm39) S311P probably damaging Het
Ddx10 A C 9: 53,140,498 (GRCm39) I301R possibly damaging Het
Dmpk T C 7: 18,826,007 (GRCm39) probably benign Het
Dnah7b C T 1: 46,230,885 (GRCm39) T1381I probably damaging Het
Dst T A 1: 34,218,670 (GRCm39) N1703K probably damaging Het
Dtwd1 T A 2: 126,000,359 (GRCm39) H98Q probably damaging Het
Ecel1 A C 1: 87,075,731 (GRCm39) V769G probably benign Het
Eno4 T C 19: 58,935,238 (GRCm39) V150A probably benign Het
Evc2 C T 5: 37,574,883 (GRCm39) probably benign Het
Ext1 T A 15: 52,965,148 (GRCm39) Q406L possibly damaging Het
Foxf2 A G 13: 31,810,775 (GRCm39) H238R probably benign Het
Frem2 C G 3: 53,444,910 (GRCm39) G2407A probably benign Het
Fzd10 A G 5: 128,678,364 (GRCm39) E28G probably benign Het
Galnt15 T C 14: 31,774,324 (GRCm39) F363L probably damaging Het
Gm1758 C T 16: 14,325,037 (GRCm39) noncoding transcript Het
Gm5866 C T 5: 52,739,956 (GRCm39) noncoding transcript Het
Heatr9 T A 11: 83,405,426 (GRCm39) M345L probably benign Het
Il23r A T 6: 67,408,629 (GRCm39) F404Y possibly damaging Het
Lrrc8a T C 2: 30,147,148 (GRCm39) I654T probably damaging Het
Napg A T 18: 63,111,091 (GRCm39) K18* probably null Het
Ndst3 A T 3: 123,355,556 (GRCm39) W573R probably damaging Het
Nin T C 12: 70,077,692 (GRCm39) S1038G possibly damaging Het
Nudt12 T A 17: 59,317,279 (GRCm39) R123* probably null Het
Oas1g T A 5: 121,015,081 (GRCm39) N361Y probably benign Het
Or5p51 T A 7: 107,444,377 (GRCm39) I188L probably benign Het
Or7a35 T A 10: 78,853,191 (GRCm39) F12I possibly damaging Het
Or8h10 A T 2: 86,808,786 (GRCm39) M118K probably damaging Het
Osbpl10 T C 9: 115,055,828 (GRCm39) F667L probably damaging Het
Phldb2 T C 16: 45,621,988 (GRCm39) D664G probably damaging Het
Piezo2 C T 18: 63,160,972 (GRCm39) V2263M probably damaging Het
Pkd1l1 A G 11: 8,858,688 (GRCm39) L615P probably damaging Het
Pnpla7 G A 2: 24,901,661 (GRCm39) M562I probably benign Het
Pou2af2 A T 9: 51,201,672 (GRCm39) L128* probably null Het
Ppp1r13b C A 12: 111,811,423 (GRCm39) R155L probably damaging Het
Pygb C T 2: 150,628,798 (GRCm39) P4L probably benign Het
Rbm44 T C 1: 91,084,562 (GRCm39) probably null Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Rin3 A G 12: 102,356,102 (GRCm39) Y801C probably damaging Het
Rnf112 A G 11: 61,340,273 (GRCm39) V619A probably damaging Het
Rnf182 A G 13: 43,821,563 (GRCm39) E38G probably benign Het
Scgb2b24 T A 7: 33,436,830 (GRCm39) Y94F probably damaging Het
Serac1 C A 17: 6,094,188 (GRCm39) probably benign Het
Shld2 T C 14: 33,967,215 (GRCm39) T114A probably benign Het
Slco1a8 A T 6: 141,917,961 (GRCm39) H638Q probably benign Het
Slco2b1 T A 7: 99,316,301 (GRCm39) M410L probably benign Het
Smarca2 T C 19: 26,753,469 (GRCm39) probably benign Het
Sned1 A G 1: 93,193,067 (GRCm39) Y409C probably damaging Het
Sorcs2 A G 5: 36,386,555 (GRCm39) V161A probably damaging Het
Spring1 T C 5: 118,397,504 (GRCm39) V162A probably damaging Het
Sptb T C 12: 76,645,501 (GRCm39) E2029G possibly damaging Het
Stx7 T A 10: 24,058,659 (GRCm39) probably null Het
Taf4b T C 18: 14,937,611 (GRCm39) V228A probably benign Het
Tbc1d1 A G 5: 64,507,273 (GRCm39) *1163W probably null Het
Tor4a G A 2: 25,084,847 (GRCm39) A352V probably damaging Het
Trpm4 A G 7: 44,977,173 (GRCm39) F81S probably damaging Het
Ttn T A 2: 76,780,436 (GRCm39) D1105V probably damaging Het
Vcf1 T A 11: 113,568,220 (GRCm39) R78S probably damaging Het
Yju2b T A 8: 84,985,177 (GRCm39) D364V possibly damaging Het
Zfp551 A G 7: 12,150,101 (GRCm39) L436P probably damaging Het
Zfp975 G T 7: 42,312,312 (GRCm39) D100E probably benign Het
Zswim3 A G 2: 164,662,032 (GRCm39) I171V probably benign Het
Zwint C T 10: 72,492,294 (GRCm39) probably benign 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
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
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'- CCACCCTTGTCATGAGGAAC -3'
(R):5'- GTCCAAAGTGCATGGTGTCTTTAG -3'

Sequencing Primer
(F):5'- AGTGTGTCCCCCTTAGATGATAAGC -3'
(R):5'- CATGGTGTCTTTAGTAAAGGAGAC -3'
Posted On 2017-02-10