Incidental Mutation 'IGL01653:Slc36a1'
ID102870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc36a1
Ensembl Gene ENSMUSG00000020261
Gene Namesolute carrier family 36 (proton/amino acid symporter), member 1
Synonyms5830411H19Rik, Pat1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #IGL01653
Quality Score
Status
Chromosome11
Chromosomal Location55204350-55236330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55228321 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 374 (D374G)
Ref Sequence ENSEMBL: ENSMUSP00000104500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020499] [ENSMUST00000108867] [ENSMUST00000108872]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020499
AA Change: D374G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: D374G

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Aa_trans 44 456 5e-77 PFAM
low complexity region 462 472 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108867
AA Change: D374G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: D374G

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Aa_trans 44 456 5e-77 PFAM
low complexity region 462 472 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000108872
AA Change: D374G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: D374G

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Aa_trans 44 456 1.6e-77 PFAM
low complexity region 462 472 N/A INTRINSIC
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 member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Slc36a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Slc36a1 APN 11 55226128 missense probably damaging 1.00
IGL01520:Slc36a1 APN 11 55219656 missense probably benign 0.11
IGL02801:Slc36a1 APN 11 55226053 missense probably benign 0.04
IGL03093:Slc36a1 APN 11 55219604 missense probably benign 0.09
IGL03183:Slc36a1 APN 11 55228191 missense probably damaging 1.00
R0058:Slc36a1 UTSW 11 55221994 splice site probably benign
R0058:Slc36a1 UTSW 11 55221994 splice site probably benign
R0288:Slc36a1 UTSW 11 55219087 missense probably damaging 1.00
R0411:Slc36a1 UTSW 11 55232507 missense probably benign 0.00
R0964:Slc36a1 UTSW 11 55225954 unclassified probably benign
R1730:Slc36a1 UTSW 11 55223672 missense probably damaging 1.00
R1748:Slc36a1 UTSW 11 55228324 missense probably damaging 1.00
R1783:Slc36a1 UTSW 11 55223672 missense probably damaging 1.00
R1826:Slc36a1 UTSW 11 55220453 missense probably benign 0.01
R2029:Slc36a1 UTSW 11 55228338 missense probably benign 0.37
R2927:Slc36a1 UTSW 11 55232375 missense probably damaging 1.00
R4541:Slc36a1 UTSW 11 55222023 missense probably benign 0.35
Posted On2014-01-21