Incidental Mutation 'IGL00950:Slc36a1'
ID28573
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: 0.137) question?
Stock #IGL00950
Quality Score
Status
Chromosome11
Chromosomal Location55204350-55236330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55226128 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 328 (C328R)
Ref Sequence ENSEMBL: ENSMUSP00000104500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020499] [ENSMUST00000108867] [ENSMUST00000108872] [ENSMUST00000147506]
Predicted Effect probably damaging
Transcript: ENSMUST00000020499
AA Change: C328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: C328R

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: C328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: C328R

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: C328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: C328R

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 67,120,912 V923A possibly damaging Het
Als2 G A 1: 59,215,382 A272V probably benign Het
Chrne C T 11: 70,619,157 probably benign Het
D430042O09Rik T A 7: 125,843,221 D767E probably benign Het
Dhx34 C T 7: 16,199,826 R947H probably damaging Het
Dnah7b A T 1: 46,214,322 M1796L probably benign Het
Doxl2 A C 6: 48,978,131 N635T possibly damaging Het
Dstyk C T 1: 132,459,988 T820I probably damaging Het
Eif4g1 A G 16: 20,683,628 K942E probably damaging Het
Fbn1 C T 2: 125,358,823 G1318E probably damaging Het
Galnt5 T C 2: 57,999,132 V248A probably benign Het
Gcnt4 A G 13: 96,946,556 Y120C probably damaging Het
Gdf5 A G 2: 155,941,706 V442A probably damaging Het
H2-Q4 A C 17: 35,382,858 D232A probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt A G 5: 34,891,441 I2423V probably benign Het
Itk T A 11: 46,367,896 I60F probably damaging Het
Izumo1 T A 7: 45,622,871 C25* probably null Het
Lamc1 G T 1: 153,240,495 P980H probably damaging Het
Ncor2 C A 5: 125,086,890 R367L unknown Het
Pcdhb17 A T 18: 37,486,006 probably null Het
Rnf123 C A 9: 108,067,395 probably null Het
Sh3bgrl2 T A 9: 83,577,490 F34I probably damaging Het
Sharpin T C 15: 76,348,224 E171G probably damaging Het
Slc22a30 A T 19: 8,335,788 D544E probably benign Het
Sntg2 T C 12: 30,312,681 probably benign Het
Sox13 A G 1: 133,387,106 V272A probably benign Het
Sppl2b T G 10: 80,864,094 L37R probably damaging Het
Strip1 T A 3: 107,621,445 S390C probably damaging Het
Stxbp5 T A 10: 9,808,602 probably benign Het
Supt16 T C 14: 52,161,798 E1008G possibly damaging Het
Vmn1r174 C A 7: 23,754,486 H192Q possibly damaging Het
Vsir C T 10: 60,364,284 Q154* probably null Het
Xrn2 A T 2: 147,028,146 R252* probably null Het
Other mutations in Slc36a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
PIT4466001:Slc36a1 UTSW 11 55219069 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
R7033:Slc36a1 UTSW 11 55223737 missense probably benign 0.05
R7059:Slc36a1 UTSW 11 55223672 missense probably damaging 1.00
Posted On2013-04-17