Incidental Mutation 'IGL03216:Slc6a19'
ID413492
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: 0.071) question?
Stock #IGL03216
Quality Score
Status
Chromosome13
Chromosomal Location73679745-73704865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 73686181 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 301 (M301L)
Ref Sequence ENSEMBL: ENSMUSP00000022048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000124406]
Predicted Effect probably benign
Transcript: ENSMUST00000022048
AA Change: M301L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: M301L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T C 16: 38,828,690 D19G possibly damaging Het
Ano10 A T 9: 122,257,061 Y491N probably damaging Het
Cacna2d1 T C 5: 16,353,842 F709L probably damaging Het
Cadps A G 14: 12,439,944 I1196T probably damaging Het
Cage1 T C 13: 38,006,177 probably benign Het
Cep350 A T 1: 155,860,627 C2888S probably benign Het
Cfap52 T C 11: 67,954,106 T46A possibly damaging Het
Cyp2d26 T C 15: 82,793,261 M76V probably benign Het
Fam208b C T 13: 3,574,553 C1799Y probably damaging Het
Fermt3 A T 19: 6,999,380 D653E probably benign Het
Foxj3 A G 4: 119,609,983 probably benign Het
Gm21985 T A 2: 112,266,936 S39T probably damaging Het
Herc1 A T 9: 66,478,946 D3727V probably benign Het
Ifi208 A T 1: 173,678,941 T97S possibly damaging Het
Iqgap1 T C 7: 80,743,088 E709G probably benign Het
Itgb5 T A 16: 33,902,838 H361Q probably benign Het
Mr1 T A 1: 155,129,289 N335I possibly damaging Het
Nadsyn1 A T 7: 143,797,845 F684I probably damaging Het
Nf1 A T 11: 79,564,895 I2544F probably benign Het
Olfr786 A G 10: 129,436,937 T42A probably damaging Het
Pnp2 T G 14: 50,963,197 S107A probably benign Het
Pomt1 A G 2: 32,242,943 I184V probably damaging Het
Smarca5 T C 8: 80,719,658 Y471C probably damaging Het
Syne2 A T 12: 75,942,961 probably benign Het
Trmt6 T C 2: 132,808,698 N330S probably null Het
Tsc22d1 T C 14: 76,418,637 V770A probably benign Het
Ttll6 A G 11: 96,152,014 D462G probably benign Het
Ttn T C 2: 76,945,049 H1883R probably damaging Het
Ubxn10 C T 4: 138,720,739 V209M probably damaging Het
Urb1 T C 16: 90,788,114 T540A probably benign Het
Vmn2r17 A T 5: 109,452,890 R685W probably damaging Het
Vps4a C T 8: 107,036,703 R30C probably damaging Het
Xpo6 A G 7: 126,104,813 V1055A probably damaging Het
Zfp445 C T 9: 122,851,978 C966Y probably damaging 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
IGL03330:Slc6a19 APN 13 73689560 missense possibly damaging 0.95
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