Incidental Mutation 'R0058:Slc36a1'
ID16833
Institutional Source Beutler Lab
Gene Symbol Slc36a1
Ensembl Gene ENSMUSG00000020261
Gene Namesolute carrier family 36 (proton/amino acid symporter), member 1
Synonyms5830411H19Rik, Pat1
MMRRC Submission 038352-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #R0058 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location55204350-55236330 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 55221994 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020499] [ENSMUST00000108867] [ENSMUST00000108872] [ENSMUST00000147506]
Predicted Effect probably benign
Transcript: ENSMUST00000020499
SMART Domains Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261

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 benign
Transcript: ENSMUST00000108867
SMART Domains Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261

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 benign
Transcript: ENSMUST00000108872
SMART Domains Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261

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
Predicted Effect probably benign
Transcript: ENSMUST00000147506
SMART Domains Protein: ENSMUSP00000121398
Gene: ENSMUSG00000020261

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
Pfam:Aa_trans 44 164 1e-23 PFAM
Coding Region Coverage
  • 1x: 87.4%
  • 3x: 82.9%
  • 10x: 66.9%
  • 20x: 41.4%
Validation Efficiency 85% (62/73)
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
Adgrv1 A G 13: 81,182,672 V6088A possibly damaging Het
Ankrd36 A G 11: 5,630,691 probably benign Het
Anxa1 A T 19: 20,383,777 Y84N probably damaging Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Avpr1b A G 1: 131,599,786 T16A probably benign Het
Cables1 A G 18: 11,923,413 E316G possibly damaging Het
Cadm1 A T 9: 47,850,331 I427L probably damaging Het
Dazap1 T C 10: 80,261,581 probably benign Het
Dip2b A G 15: 100,215,240 E1512G probably benign Het
Dock1 G A 7: 135,108,761 V1171M possibly damaging Het
Dock5 A T 14: 67,781,036 F1230Y probably benign Het
Dst T C 1: 34,006,224 S13P possibly damaging Het
Dym G A 18: 75,043,172 E15K possibly damaging Het
Faf1 A G 4: 109,736,624 Q133R probably benign Het
Fcer2a T C 8: 3,688,111 probably benign Het
Fmo2 A T 1: 162,886,324 S204R probably benign Het
Ghitm A G 14: 37,131,592 L97P probably damaging Het
Gins4 A G 8: 23,229,510 probably benign Het
Gm10573 G A 4: 121,920,736 Het
Golga3 T A 5: 110,202,777 F766Y possibly damaging Het
Hapln1 T C 13: 89,607,878 I267T probably benign Het
Helz A T 11: 107,672,558 probably benign Het
Igll1 A T 16: 16,863,876 V5E probably benign Het
Kif16b A G 2: 142,857,305 probably null Het
Limk1 A T 5: 134,659,871 W507R probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Mtif3 C A 5: 146,956,921 V159F probably benign Het
Ncoa7 T A 10: 30,647,541 D887V probably damaging Het
Pkd1 G C 17: 24,564,703 A162P probably benign Het
Plce1 A G 19: 38,525,184 D309G possibly damaging Het
Plk4 T C 3: 40,805,872 V401A probably benign Het
Prrc2c C T 1: 162,698,884 V253I unknown Het
Ranbp2 T A 10: 58,480,531 S2358T probably damaging Het
Setd2 T A 9: 110,594,426 V2183E probably damaging Het
Sgsm1 T A 5: 113,285,087 S232C probably damaging Het
Skint6 A T 4: 113,046,815 probably benign Het
Slc15a2 A G 16: 36,754,547 I531T probably benign Het
Sptan1 T C 2: 29,993,696 probably null Het
Tex15 C T 8: 33,581,502 probably benign Het
Tlr9 T G 9: 106,224,965 L485R possibly damaging Het
Tmem207 A G 16: 26,524,829 probably benign Het
Triml2 T C 8: 43,185,269 probably benign Het
Tspear T C 10: 77,869,631 F288L probably benign Het
Zfp644 A T 5: 106,637,003 S559R possibly 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
IGL01653:Slc36a1 APN 11 55228321 missense possibly damaging 0.73
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
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 On2013-01-20