Incidental Mutation 'IGL00647:Slc3a1'
ID 14097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc3a1
Ensembl Gene ENSMUSG00000024131
Gene Name solute carrier family 3, member 1
Synonyms NTAA, D2H
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00647
Quality Score
Status
Chromosome 17
Chromosomal Location 85335804-85371664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85371233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 595 (V595D)
Ref Sequence ENSEMBL: ENSMUSP00000024944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024944] [ENSMUST00000072406] [ENSMUST00000171795]
AlphaFold Q91WV7
Predicted Effect probably damaging
Transcript: ENSMUST00000024944
AA Change: V595D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: V595D

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
Aamy 124 504 6.7e-110 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000072406
SMART Domains Protein: ENSMUSP00000072239
Gene: ENSMUSG00000024127

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 15 339 7.4e-28 PFAM
Pfam:Peptidase_S9 399 623 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171795
SMART Domains Protein: ENSMUSP00000130967
Gene: ENSMUSG00000024127

DomainStartEndE-ValueType
Pfam:Peptidase_S9_N 86 428 5.2e-30 PFAM
Pfam:Peptidase_S9 486 710 2e-35 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 type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus results in renal absorption defects and cystine urolithiasis. Homozygous mutant mice serve as a mouse model for human cystinuria type I. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C9 C A 15: 6,512,564 (GRCm39) H229N probably benign Het
Ctsr T C 13: 61,310,556 (GRCm39) N63S probably damaging Het
Gmfb C T 14: 47,054,838 (GRCm39) probably null Het
Itsn2 T C 12: 4,663,311 (GRCm39) probably benign Het
Mfap5 G A 6: 122,502,975 (GRCm39) V62M probably damaging Het
Mmp2 A G 8: 93,557,312 (GRCm39) T73A probably benign Het
Prss40 T C 1: 34,591,620 (GRCm39) T352A probably benign Het
Rag2 A G 2: 101,460,962 (GRCm39) D424G probably benign Het
Tomm22 T A 15: 79,556,099 (GRCm39) F27I probably damaging Het
Tshr A G 12: 91,504,274 (GRCm39) E404G probably damaging Het
Zfp518a C T 19: 40,903,130 (GRCm39) P1020S probably damaging Het
Other mutations in Slc3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Slc3a1 APN 17 85,368,261 (GRCm39) missense probably damaging 1.00
IGL02755:Slc3a1 APN 17 85,344,605 (GRCm39) missense probably damaging 1.00
IGL03079:Slc3a1 APN 17 85,367,251 (GRCm39) nonsense probably null
IGL03390:Slc3a1 APN 17 85,340,205 (GRCm39) missense probably damaging 1.00
R0031:Slc3a1 UTSW 17 85,340,274 (GRCm39) missense probably damaging 1.00
R0097:Slc3a1 UTSW 17 85,340,288 (GRCm39) missense probably damaging 0.99
R0097:Slc3a1 UTSW 17 85,340,288 (GRCm39) missense probably damaging 0.99
R0363:Slc3a1 UTSW 17 85,340,273 (GRCm39) missense probably damaging 1.00
R0531:Slc3a1 UTSW 17 85,336,077 (GRCm39) missense possibly damaging 0.66
R0636:Slc3a1 UTSW 17 85,340,222 (GRCm39) missense possibly damaging 0.78
R0662:Slc3a1 UTSW 17 85,344,635 (GRCm39) missense possibly damaging 0.89
R0725:Slc3a1 UTSW 17 85,368,263 (GRCm39) nonsense probably null
R0930:Slc3a1 UTSW 17 85,367,171 (GRCm39) missense probably benign 0.01
R1141:Slc3a1 UTSW 17 85,336,077 (GRCm39) missense possibly damaging 0.66
R2025:Slc3a1 UTSW 17 85,340,273 (GRCm39) missense probably damaging 1.00
R2271:Slc3a1 UTSW 17 85,371,220 (GRCm39) missense probably benign 0.00
R4196:Slc3a1 UTSW 17 85,368,306 (GRCm39) missense probably damaging 1.00
R4740:Slc3a1 UTSW 17 85,354,181 (GRCm39) missense probably benign 0.00
R5049:Slc3a1 UTSW 17 85,340,273 (GRCm39) missense probably damaging 1.00
R5255:Slc3a1 UTSW 17 85,335,881 (GRCm39) splice site probably null
R5261:Slc3a1 UTSW 17 85,359,403 (GRCm39) missense probably damaging 1.00
R5601:Slc3a1 UTSW 17 85,340,319 (GRCm39) missense probably benign 0.00
R5853:Slc3a1 UTSW 17 85,340,008 (GRCm39) missense probably damaging 1.00
R6063:Slc3a1 UTSW 17 85,335,951 (GRCm39) missense probably benign
R6332:Slc3a1 UTSW 17 85,335,860 (GRCm39) start codon destroyed probably damaging 0.99
R7162:Slc3a1 UTSW 17 85,371,442 (GRCm39) nonsense probably null
R7269:Slc3a1 UTSW 17 85,339,873 (GRCm39) missense probably damaging 1.00
R7516:Slc3a1 UTSW 17 85,371,190 (GRCm39) missense probably damaging 1.00
R7807:Slc3a1 UTSW 17 85,371,371 (GRCm39) missense probably benign 0.09
R8269:Slc3a1 UTSW 17 85,339,982 (GRCm39) missense probably benign 0.00
R8351:Slc3a1 UTSW 17 85,335,924 (GRCm39) missense possibly damaging 0.68
R8361:Slc3a1 UTSW 17 85,344,640 (GRCm39) nonsense probably null
R8451:Slc3a1 UTSW 17 85,335,924 (GRCm39) missense possibly damaging 0.68
R8543:Slc3a1 UTSW 17 85,335,925 (GRCm39) missense probably benign 0.42
R9764:Slc3a1 UTSW 17 85,371,419 (GRCm39) missense probably damaging 1.00
X0020:Slc3a1 UTSW 17 85,336,236 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06