Incidental Mutation 'IGL03330:Slc6a19'
ID416836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a19
Ensembl Gene ENSMUSG00000021565
Gene Namesolute carrier family 6 (neurotransmitter transporter), member 19
SynonymsB<0>AT1, 4632401C08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL03330
Quality Score
Status
Chromosome13
Chromosomal Location73679745-73704865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73689560 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 239 (I239F)
Ref Sequence ENSEMBL: ENSMUSP00000022048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000124406]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022048
AA Change: I239F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: I239F

DomainStartEndE-ValueType
Pfam:SNF 32 608 2.3e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123997
Predicted Effect probably benign
Transcript: ENSMUST00000124406
SMART Domains Protein: ENSMUSP00000119313
Gene: ENSMUSG00000021565

DomainStartEndE-ValueType
Pfam:SNF 32 79 1.7e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140878
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,159,428 I837V probably damaging Het
Actr2 A G 11: 20,091,330 V138A probably benign Het
Adam30 G A 3: 98,162,456 C535Y probably damaging Het
Bcor G A X: 12,058,871 T162I possibly damaging Het
Catsperd C A 17: 56,632,316 N48K possibly damaging Het
Ccr2 T C 9: 124,105,959 I92T probably damaging Het
Cp A G 3: 19,966,435 I197M probably damaging Het
Cpne3 T A 4: 19,553,774 T86S possibly damaging Het
Dnm3 A T 1: 162,320,991 D270E probably benign Het
Enpp1 C T 10: 24,664,906 probably benign Het
Ephx1 A G 1: 180,999,806 V94A possibly damaging Het
Fbxw25 T C 9: 109,645,239 M448V probably benign Het
Fhl2 A G 1: 43,153,191 L14P probably damaging Het
Gabra4 T C 5: 71,641,064 R191G probably null Het
Gtpbp6 T C 5: 110,107,063 T151A possibly damaging Het
Lars T A 18: 42,219,944 M803L probably benign Het
Myc A G 15: 61,988,149 T224A probably benign Het
Noxa1 T A 2: 25,090,514 D161V possibly damaging Het
Olfr317 A C 11: 58,732,919 L82R probably damaging Het
Olfr723 C T 14: 49,929,221 G108R probably damaging Het
Olfr965 C T 9: 39,719,488 T87I probably benign Het
Peg3 G T 7: 6,710,413 N603K probably damaging Het
Rhox4c G T X: 37,480,528 G15V probably benign Het
Sgcb T A 5: 73,639,869 S183C probably damaging Het
Socs7 T C 11: 97,378,552 Y399H probably damaging Het
Stc2 T C 11: 31,369,804 D20G probably benign Het
Tmem184b A T 15: 79,369,979 probably null Het
Tpo A G 12: 30,103,501 S285P probably damaging Het
Vmn2r27 G T 6: 124,230,180 Y167* probably null Het
Other mutations in Slc6a19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Slc6a19 APN 13 73700590 missense probably damaging 1.00
IGL02425:Slc6a19 APN 13 73691800 missense probably benign 0.00
IGL03030:Slc6a19 APN 13 73700471 missense probably damaging 1.00
IGL03067:Slc6a19 APN 13 73689730 nonsense probably null
IGL03216:Slc6a19 APN 13 73686181 missense probably benign
H8562:Slc6a19 UTSW 13 73700124 intron probably benign
R0107:Slc6a19 UTSW 13 73684057 missense possibly damaging 0.93
R0446:Slc6a19 UTSW 13 73691695 missense probably benign 0.01
R1422:Slc6a19 UTSW 13 73685869 missense probably benign 0.05
R1443:Slc6a19 UTSW 13 73684344 missense probably damaging 1.00
R1501:Slc6a19 UTSW 13 73684048 missense probably benign 0.08
R1564:Slc6a19 UTSW 13 73686124 missense probably damaging 1.00
R1632:Slc6a19 UTSW 13 73689908 splice site probably null
R1832:Slc6a19 UTSW 13 73692950 missense probably benign
R2077:Slc6a19 UTSW 13 73700566 missense probably benign
R4418:Slc6a19 UTSW 13 73684395 missense possibly damaging 0.93
R4486:Slc6a19 UTSW 13 73681717 missense probably damaging 0.98
R4510:Slc6a19 UTSW 13 73683975 missense probably damaging 1.00
R4511:Slc6a19 UTSW 13 73683975 missense probably damaging 1.00
R4803:Slc6a19 UTSW 13 73684042 missense possibly damaging 0.91
R4965:Slc6a19 UTSW 13 73700558 missense probably benign 0.00
R4988:Slc6a19 UTSW 13 73685840 nonsense probably null
R5085:Slc6a19 UTSW 13 73691753 missense probably benign 0.11
R5533:Slc6a19 UTSW 13 73685829 missense possibly damaging 0.67
R5851:Slc6a19 UTSW 13 73691740 missense possibly damaging 0.55
R5874:Slc6a19 UTSW 13 73684368 missense probably damaging 0.98
R6074:Slc6a19 UTSW 13 73689763 missense probably benign 0.00
R6608:Slc6a19 UTSW 13 73683972 missense probably damaging 1.00
R7275:Slc6a19 UTSW 13 73686078 missense probably benign 0.11
R7386:Slc6a19 UTSW 13 73689891 missense possibly damaging 0.91
R7388:Slc6a19 UTSW 13 73693084 missense probably benign 0.30
R7393:Slc6a19 UTSW 13 73692974 missense probably benign 0.00
Z1088:Slc6a19 UTSW 13 73689730 missense possibly damaging 0.82
Posted On2016-08-02