Incidental Mutation 'R0930:Slc3a1'
ID 80842
Institutional Source Beutler Lab
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 # R0930 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 85335804-85371664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85367171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 453 (T453A)
Ref Sequence ENSEMBL: ENSMUSP00000024944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024944] [ENSMUST00000072406] [ENSMUST00000171795]
AlphaFold Q91WV7
Predicted Effect probably benign
Transcript: ENSMUST00000024944
AA Change: T453A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: T453A

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 G T 17: 84,990,705 (GRCm39) V16L probably benign Het
Adamts18 A T 8: 114,432,028 (GRCm39) probably null Het
Agpat4 A T 17: 12,417,723 (GRCm39) E88V probably damaging Het
Ahcyl2 A C 6: 29,870,627 (GRCm39) probably null Het
Ankrd2 T A 19: 42,032,292 (GRCm39) probably null Het
Anxa6 A T 11: 54,885,214 (GRCm39) probably null Het
Bpi A G 2: 158,103,346 (GRCm39) I114V possibly damaging Het
Cacna1c A T 6: 118,652,857 (GRCm39) I772N probably damaging Het
Cacna2d1 A G 5: 16,570,860 (GRCm39) N1045D possibly damaging Het
Caprin2 T C 6: 148,785,009 (GRCm39) probably null Het
Cars1 T A 7: 143,124,307 (GRCm39) H373L probably damaging Het
Ccdc191 G T 16: 43,751,618 (GRCm39) G316V probably damaging Het
Cd244a T A 1: 171,404,801 (GRCm39) probably null Het
Ces1a C T 8: 93,749,044 (GRCm39) D456N probably benign Het
Cul3 A T 1: 80,267,835 (GRCm39) M102K probably damaging Het
Dact1 A G 12: 71,365,234 (GRCm39) R672G probably damaging Het
Dapk1 T C 13: 60,905,262 (GRCm39) F991L probably benign Het
Dlg5 G A 14: 24,185,645 (GRCm39) P1920L probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Exosc4 A G 15: 76,211,734 (GRCm39) I14M probably benign Het
Ezr G A 17: 7,021,398 (GRCm39) R180* probably null Het
Fcgbpl1 A T 7: 27,839,555 (GRCm39) Y456F probably damaging Het
Fyb1 A T 15: 6,668,309 (GRCm39) I501F probably damaging Het
Hdac5 G T 11: 102,095,472 (GRCm39) P383Q probably benign Het
Hmx3 A T 7: 131,144,813 (GRCm39) H41L probably benign Het
Krt36 A G 11: 99,994,225 (GRCm39) F284S probably damaging Het
L1td1 A G 4: 98,625,862 (GRCm39) N686D probably damaging Het
Lsamp G A 16: 41,709,327 (GRCm39) G86S probably benign Het
Myh8 A G 11: 67,196,824 (GRCm39) E1819G possibly damaging Het
Myo7a A T 7: 97,747,463 (GRCm39) I129N probably damaging Het
Nckap1 A T 2: 80,384,593 (GRCm39) C114S probably benign Het
Nphp4 T G 4: 152,622,512 (GRCm39) L599R probably benign Het
Nrcam A G 12: 44,596,667 (GRCm39) I301V probably benign Het
Or6b2b A G 1: 92,419,127 (GRCm39) S117P possibly damaging Het
Os9 C T 10: 126,932,924 (GRCm39) R547Q probably damaging Het
Oxtr A T 6: 112,466,598 (GRCm39) probably null Het
Pgm2 A T 5: 64,269,490 (GRCm39) I526F possibly damaging Het
Plekho2 T C 9: 65,464,105 (GRCm39) D248G possibly damaging Het
Rab43 A T 6: 87,769,752 (GRCm39) Y151* probably null Het
Rbm19 A G 5: 120,264,269 (GRCm39) E343G probably benign Het
Rel A T 11: 23,692,439 (GRCm39) D531E probably benign Het
Rfx4 T A 10: 84,704,291 (GRCm39) V262E probably damaging Het
Ryr3 A G 2: 112,672,178 (GRCm39) L1431P probably damaging Het
Sdk2 A G 11: 113,729,271 (GRCm39) I1102T probably benign Het
Sema3d A C 5: 12,513,183 (GRCm39) D51A possibly damaging Het
Sh2d4a T A 8: 68,787,775 (GRCm39) F294I probably damaging Het
Sod1 A G 16: 90,022,071 (GRCm39) D93G probably benign Het
Sptan1 A G 2: 29,906,040 (GRCm39) N1662S probably damaging Het
Stxbp4 A C 11: 90,512,526 (GRCm39) M1R probably null Het
Tbc1d7 A T 13: 43,318,812 (GRCm39) Y108* probably null Het
Ticam1 A T 17: 56,577,226 (GRCm39) V623D unknown Het
Ticam1 A G 17: 56,578,687 (GRCm39) L136P probably damaging Het
Tjap1 A C 17: 46,569,455 (GRCm39) W512G possibly damaging Het
Unc80 A T 1: 66,549,800 (GRCm39) Q686L possibly damaging Het
Wdr45b A T 11: 121,221,040 (GRCm39) F213I probably damaging Het
Xdh A C 17: 74,230,077 (GRCm39) W285G probably benign Het
Zfp646 C T 7: 127,482,982 (GRCm39) Q1500* probably null Het
Other mutations in Slc3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Slc3a1 APN 17 85,368,261 (GRCm39) missense probably damaging 1.00
IGL00647:Slc3a1 APN 17 85,371,233 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ATCGCTGGGCTTCCTGATAGAAGTGC -3'
(R):5'- TCCTTGACCACCGAGACAGCAATG -3'

Sequencing Primer
(F):5'- GCTTGGGTtttctttgtttgtttg -3'
(R):5'- GGTGGCCCGCAACTAAAAAG -3'
Posted On 2013-11-07