Incidental Mutation 'IGL03067:Slc6a19'
ID409729
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: 0.084) question?
Stock #IGL03067
Quality Score
Status
Chromosome13
Chromosomal Location73679745-73704865 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 73689730 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 217 (E217*)
Ref Sequence ENSEMBL: ENSMUSP00000022048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000124406]
Predicted Effect probably null
Transcript: ENSMUST00000022048
AA Change: E217*
SMART Domains Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: E217*

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
Aatk A T 11: 120,010,083 D1162E probably benign Het
Abhd2 T C 7: 79,360,034 F386L probably benign Het
Adamts6 C T 13: 104,297,275 R71W probably damaging Het
Adgrv1 T C 13: 81,442,480 Y4403C probably damaging Het
Aldoart1 A T 4: 72,851,957 C205S possibly damaging Het
Ap2a1 C A 7: 44,903,511 A711S probably benign Het
Arhgef28 A G 13: 97,988,286 I496T probably benign Het
Cyp27a1 A G 1: 74,731,909 probably null Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dpy19l1 A G 9: 24,438,660 V428A probably benign Het
Foxk2 C T 11: 121,285,568 T180M possibly damaging Het
Gm3402 C A 5: 146,514,589 H86N possibly damaging Het
Gm3543 A G 14: 41,980,873 probably benign Het
Gnai3 T C 3: 108,118,293 probably benign Het
Hmcn2 C T 2: 31,346,630 P395L probably damaging Het
Igsf10 T C 3: 59,318,918 I2445V probably benign Het
Il10ra T C 9: 45,255,859 T465A probably benign Het
Itpr2 G A 6: 146,325,182 L1322F probably damaging Het
Man1b1 T C 2: 25,349,332 Y536H probably benign Het
P3h1 A G 4: 119,235,280 H170R probably damaging Het
Pakap A T 4: 57,648,038 T59S probably benign Het
Parp14 A G 16: 35,856,508 V1030A probably benign Het
Pdzd2 A G 15: 12,388,542 probably null Het
Pilra T C 5: 137,823,581 Y264C probably damaging Het
Ptprf A G 4: 118,210,713 V1799A possibly damaging Het
Rap1gap2 A G 11: 74,393,412 S649P possibly damaging Het
Rasgrf2 T C 13: 92,022,905 M426V probably damaging Het
Rpl9 A G 5: 65,390,848 I18T possibly damaging Het
Smtn C A 11: 3,530,165 R352L possibly damaging Het
Supv3l1 C A 10: 62,429,821 D647Y probably damaging Het
Sv2a A G 3: 96,185,182 Y66C probably damaging Het
Upk1b A G 16: 38,784,910 I107T probably damaging Het
Yif1a T C 19: 5,089,785 V86A possibly damaging Het
Zfp820 T C 17: 21,819,820 T176A possibly 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
IGL03216:Slc6a19 APN 13 73686181 missense probably benign
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