Incidental Mutation 'IGL01653:Slc36a1'
ID 102870
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc36a1
Ensembl Gene ENSMUSG00000020261
Gene Name solute carrier family 36 (proton/amino acid symporter), member 1
Synonyms Pat1, 5830411H19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # IGL01653
Quality Score
Status
Chromosome 11
Chromosomal Location 55095176-55127156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55119147 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K4D3
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: 42,096,398 (GRCm39) D119G probably damaging Het
Apol7c A G 15: 77,410,500 (GRCm39) C149R probably damaging Het
Arfgef1 G A 1: 10,230,133 (GRCm39) R1235* probably null Het
Bpifb4 A G 2: 153,786,703 (GRCm39) D285G probably damaging Het
Cep192 T A 18: 67,986,043 (GRCm39) H1682Q possibly damaging Het
Cerk G T 15: 86,033,552 (GRCm39) Y290* probably null Het
Cyld A T 8: 89,467,998 (GRCm39) I544F probably damaging Het
Dcp1a T C 14: 30,227,528 (GRCm39) S134P possibly damaging Het
Epha6 A C 16: 59,659,666 (GRCm39) N817K probably benign Het
Ephb4 A G 5: 137,364,003 (GRCm39) probably benign Het
Fcgr3 A T 1: 170,886,849 (GRCm39) L25Q probably damaging Het
Heatr3 A G 8: 88,871,245 (GRCm39) I83V probably benign Het
Hormad1 T A 3: 95,485,608 (GRCm39) N265K possibly damaging Het
Kpna1 A G 16: 35,840,562 (GRCm39) T201A probably benign Het
Krt6b T A 15: 101,587,549 (GRCm39) T182S probably damaging Het
Macc1 A G 12: 119,414,088 (GRCm39) K755E probably damaging Het
Med12l C T 3: 59,169,314 (GRCm39) T1568M probably damaging Het
Muc4 G T 16: 32,581,722 (GRCm39) probably null Het
Myt1l T C 12: 29,960,770 (GRCm39) S1028P unknown Het
Nhlrc2 C T 19: 56,559,282 (GRCm39) R256C probably benign Het
Or4c123 T A 2: 89,127,471 (GRCm39) T48S probably benign Het
Or5a3 G A 19: 12,399,736 (GRCm39) R21H probably benign Het
Pfkfb4 G A 9: 108,828,202 (GRCm39) R79H probably damaging Het
Piezo2 T C 18: 63,315,904 (GRCm39) probably benign Het
Pramel5 C T 4: 144,000,429 (GRCm39) R49H probably benign Het
Ralgapb T A 2: 158,304,079 (GRCm39) S613T possibly damaging Het
Ryr1 T C 7: 28,778,022 (GRCm39) E2158G probably damaging Het
Scgb2b19 T A 7: 32,979,153 (GRCm39) Y43F probably damaging Het
Slc17a6 A G 7: 51,317,770 (GRCm39) T468A possibly damaging Het
Wdtc1 T C 4: 133,022,543 (GRCm39) D601G probably damaging Het
Zfp1007 A C 5: 109,825,182 (GRCm39) Y89* probably null Het
Other mutations in Slc36a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Slc36a1 APN 11 55,116,954 (GRCm39) missense probably damaging 1.00
IGL01520:Slc36a1 APN 11 55,110,482 (GRCm39) missense probably benign 0.11
IGL02801:Slc36a1 APN 11 55,116,879 (GRCm39) missense probably benign 0.04
IGL03093:Slc36a1 APN 11 55,110,430 (GRCm39) missense probably benign 0.09
IGL03183:Slc36a1 APN 11 55,119,017 (GRCm39) missense probably damaging 1.00
PIT4466001:Slc36a1 UTSW 11 55,109,895 (GRCm39) missense probably damaging 1.00
R0058:Slc36a1 UTSW 11 55,112,820 (GRCm39) splice site probably benign
R0058:Slc36a1 UTSW 11 55,112,820 (GRCm39) splice site probably benign
R0288:Slc36a1 UTSW 11 55,109,913 (GRCm39) missense probably damaging 1.00
R0411:Slc36a1 UTSW 11 55,123,333 (GRCm39) missense probably benign 0.00
R0964:Slc36a1 UTSW 11 55,116,780 (GRCm39) unclassified probably benign
R1730:Slc36a1 UTSW 11 55,114,498 (GRCm39) missense probably damaging 1.00
R1748:Slc36a1 UTSW 11 55,119,150 (GRCm39) missense probably damaging 1.00
R1783:Slc36a1 UTSW 11 55,114,498 (GRCm39) missense probably damaging 1.00
R1826:Slc36a1 UTSW 11 55,111,279 (GRCm39) missense probably benign 0.01
R2029:Slc36a1 UTSW 11 55,119,164 (GRCm39) missense probably benign 0.37
R2927:Slc36a1 UTSW 11 55,123,201 (GRCm39) missense probably damaging 1.00
R4541:Slc36a1 UTSW 11 55,112,849 (GRCm39) missense probably benign 0.35
R7033:Slc36a1 UTSW 11 55,114,563 (GRCm39) missense probably benign 0.05
R7059:Slc36a1 UTSW 11 55,114,498 (GRCm39) missense probably damaging 1.00
R7583:Slc36a1 UTSW 11 55,104,754 (GRCm39) critical splice acceptor site probably null
R8672:Slc36a1 UTSW 11 55,123,334 (GRCm39) missense possibly damaging 0.89
Z1176:Slc36a1 UTSW 11 55,115,796 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21