Incidental Mutation 'IGL03183:Slc36a1'
ID 412343
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 # IGL03183
Quality Score
Status
Chromosome 11
Chromosomal Location 55095176-55127156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55119017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 331 (Y331N)
Ref Sequence ENSEMBL: ENSMUSP00000104500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020499] [ENSMUST00000108867] [ENSMUST00000108872]
AlphaFold Q8K4D3
Predicted Effect probably damaging
Transcript: ENSMUST00000020499
AA Change: Y331N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: Y331N

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 probably damaging
Transcript: ENSMUST00000108867
AA Change: Y331N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: Y331N

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 probably damaging
Transcript: ENSMUST00000108872
AA Change: Y331N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: Y331N

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh6a1 A G 12: 84,483,214 (GRCm39) probably null Het
Ano2 A T 6: 125,687,592 (GRCm39) K32N probably benign Het
Asic1 A G 15: 99,569,898 (GRCm39) H73R probably benign Het
B3glct A G 5: 149,677,607 (GRCm39) D412G probably damaging Het
Baz2b T C 2: 59,733,640 (GRCm39) I1891V probably benign Het
Cc2d2a A G 5: 43,889,721 (GRCm39) E1278G probably damaging Het
Ccdc116 T C 16: 16,960,718 (GRCm39) E33G probably benign Het
Celf4 T A 18: 25,670,796 (GRCm39) Q129L probably benign Het
Celf4 G T 18: 25,670,797 (GRCm39) Q129K probably benign Het
Cfap251 A G 5: 123,392,682 (GRCm39) probably benign Het
Col18a1 A G 10: 76,909,588 (GRCm39) S817P probably damaging Het
Corin A G 5: 72,458,929 (GRCm39) V940A probably damaging Het
Dlgap2 A T 8: 14,777,525 (GRCm39) N257Y possibly damaging Het
Dnah2 C A 11: 69,349,314 (GRCm39) V2441L possibly damaging Het
Evpl C T 11: 116,112,438 (GRCm39) E1751K probably damaging Het
Fat1 G A 8: 45,403,623 (GRCm39) E125K probably damaging Het
Fras1 A T 5: 96,881,640 (GRCm39) probably benign Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
G3bp2 A C 5: 92,202,905 (GRCm39) M362R possibly damaging Het
Grk5 T C 19: 61,057,774 (GRCm39) F158S probably damaging Het
Hmbox1 G T 14: 65,125,048 (GRCm39) Q188K probably damaging Het
Ift172 A T 5: 31,429,348 (GRCm39) D604E probably benign Het
Igkv6-32 T A 6: 70,051,556 (GRCm39) T5S probably benign Het
Impa1 A G 3: 10,388,054 (GRCm39) Y123H probably damaging Het
Itgb4 C T 11: 115,879,550 (GRCm39) T612M probably damaging Het
Med12l T A 3: 58,944,976 (GRCm39) probably null Het
Meis2 A G 2: 115,890,002 (GRCm39) L160S probably damaging Het
Micu1 C T 10: 59,563,870 (GRCm39) R31* probably null Het
Nlrp9a G T 7: 26,256,882 (GRCm39) A167S probably damaging Het
Or10j27 A G 1: 172,958,425 (GRCm39) Y120H probably damaging Het
Or4d10 A T 19: 12,051,392 (GRCm39) N201K probably damaging Het
Plpp6 A G 19: 28,942,071 (GRCm39) N224S possibly damaging Het
Sdk2 T A 11: 113,741,810 (GRCm39) H803L probably benign Het
Shld2 T C 14: 33,967,143 (GRCm39) T690A probably benign Het
Spata31d1c A T 13: 65,183,009 (GRCm39) I184F possibly damaging Het
Stat3 T C 11: 100,793,582 (GRCm39) I338V possibly damaging Het
Stk10 T A 11: 32,554,143 (GRCm39) V610E possibly damaging Het
Syna A G 5: 134,587,144 (GRCm39) S602P probably benign Het
Tap2 T A 17: 34,424,399 (GRCm39) probably benign Het
Tln1 T C 4: 43,539,084 (GRCm39) probably benign Het
Tra2b C A 16: 22,073,303 (GRCm39) probably benign Het
Ttc7b T C 12: 100,339,968 (GRCm39) probably null Het
Vmn2r121 G A X: 123,042,023 (GRCm39) T378I probably benign Het
Wdr1 A T 5: 38,690,825 (GRCm39) 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
IGL01653:Slc36a1 APN 11 55,119,147 (GRCm39) missense possibly damaging 0.73
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
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 2016-08-02