Incidental Mutation 'R0636:Slc3a1'
ID 56721
Institutional Source Beutler Lab
Gene Symbol Slc3a1
Ensembl Gene ENSMUSG00000024131
Gene Name solute carrier family 3, member 1
Synonyms NTAA, D2H
MMRRC Submission 038825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0636 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 85335804-85371664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85340222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 215 (T215S)
Ref Sequence ENSEMBL: ENSMUSP00000024944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024944]
AlphaFold Q91WV7
Predicted Effect possibly damaging
Transcript: ENSMUST00000024944
AA Change: T215S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: T215S

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
Aamy 124 504 6.7e-110 SMART
Meta Mutation Damage Score 0.7076 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 96% (74/77)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,414 (GRCm39) Y264C probably damaging Het
8030423J24Rik T C 13: 71,032,344 (GRCm39) F139L unknown Het
Aco1 A G 4: 40,175,697 (GRCm39) E146G probably damaging Het
Adam2 T G 14: 66,272,265 (GRCm39) D639A probably benign Het
Adh4 G T 3: 138,133,835 (GRCm39) R315L probably damaging Het
Adprhl1 T C 8: 13,298,702 (GRCm39) D76G probably damaging Het
Akip1 T C 7: 109,306,726 (GRCm39) probably benign Het
Ap3d1 T A 10: 80,555,216 (GRCm39) K370* probably null Het
Arfgef1 C A 1: 10,270,076 (GRCm39) V358L probably benign Het
Arpp21 A T 9: 112,012,566 (GRCm39) D85E probably benign Het
Azi2 A T 9: 117,891,125 (GRCm39) L383F probably benign Het
Bpgm T A 6: 34,481,222 (GRCm39) D206E probably benign Het
Bsn T C 9: 107,985,033 (GRCm39) D3007G unknown Het
Ccdc142 T G 6: 83,084,179 (GRCm39) probably benign Het
Cep135 T C 5: 76,763,504 (GRCm39) V498A probably benign Het
Cntn6 A T 6: 104,840,109 (GRCm39) Q1003L probably benign Het
Cntnap2 T A 6: 47,273,642 (GRCm39) probably benign Het
Csf2rb2 G A 15: 78,176,160 (GRCm39) Q139* probably null Het
Cyp3a16 A G 5: 145,399,895 (GRCm39) V101A probably benign Het
D630045J12Rik T C 6: 38,173,713 (GRCm39) T152A probably benign Het
Def8 G A 8: 124,181,096 (GRCm39) W176* probably null Het
Dgkg A G 16: 22,398,479 (GRCm39) probably benign Het
Ear10 T C 14: 44,160,451 (GRCm39) probably null Het
Fbxw2 A T 2: 34,712,859 (GRCm39) Y67* probably null Het
Flii T A 11: 60,606,378 (GRCm39) Y1104F probably damaging Het
Gm973 G A 1: 59,590,303 (GRCm39) R270K probably benign Het
Gnl3 T A 14: 30,739,110 (GRCm39) K75N probably damaging Het
Gpc6 A T 14: 117,861,905 (GRCm39) M274L probably benign Het
Ifi47 A G 11: 48,987,478 (GRCm39) E415G possibly damaging Het
Ift57 A G 16: 49,532,259 (GRCm39) T130A probably benign Het
Itpr2 T A 6: 146,072,910 (GRCm39) D2373V probably damaging Het
Kat6a T C 8: 23,429,339 (GRCm39) S1565P possibly damaging Het
Klhl6 A T 16: 19,766,823 (GRCm39) probably benign Het
Klra2 T C 6: 131,197,067 (GRCm39) probably benign Het
Lama5 A G 2: 179,831,124 (GRCm39) probably null Het
Mapk4 A G 18: 74,063,525 (GRCm39) S566P probably benign Het
Mindy4 C A 6: 55,253,570 (GRCm39) R480S possibly damaging Het
Mterf3 T C 13: 67,070,817 (GRCm39) probably benign Het
Mtmr2 A G 9: 13,713,209 (GRCm39) probably null Het
Myef2l T C 3: 10,153,843 (GRCm39) L204P possibly damaging Het
Naip5 T C 13: 100,356,196 (GRCm39) T1140A probably benign Het
Nf1 A G 11: 79,426,529 (GRCm39) T1648A probably damaging Het
Nlk A T 11: 78,586,670 (GRCm39) D141E probably benign Het
Noxa1 C A 2: 24,976,106 (GRCm39) probably benign Het
Or4g16 A G 2: 111,136,757 (GRCm39) N69S probably benign Het
Or5b121 A T 19: 13,507,613 (GRCm39) Y236F possibly damaging Het
Or5p55 T C 7: 107,566,679 (GRCm39) V25A probably benign Het
Otog G A 7: 45,913,652 (GRCm39) probably null Het
Pebp4 T C 14: 70,285,796 (GRCm39) probably benign Het
Phgdh G T 3: 98,240,607 (GRCm39) N100K possibly damaging Het
Pnisr T A 4: 21,873,800 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,702,242 (GRCm39) H346R probably benign Het
Rsf1 T C 7: 97,311,226 (GRCm39) V652A possibly damaging Het
Rubcn G A 16: 32,649,056 (GRCm39) H624Y probably damaging Het
Semp2l2a T C 8: 13,887,870 (GRCm39) R74G probably benign Het
Setdb2 T C 14: 59,644,153 (GRCm39) N656D probably benign Het
Slc22a23 T C 13: 34,483,076 (GRCm39) T268A probably benign Het
Srsf2 A G 11: 116,742,904 (GRCm39) S206P probably benign Het
Susd2 T A 10: 75,475,184 (GRCm39) D542V probably damaging Het
Svep1 G A 4: 58,073,121 (GRCm39) Q2063* probably null Het
Syne2 G A 12: 75,977,757 (GRCm39) V1401M possibly damaging Het
Tenm2 A G 11: 36,834,803 (GRCm39) L64P probably damaging Het
Tigd2 A G 6: 59,188,272 (GRCm39) T380A possibly damaging Het
Trmt12 G T 15: 58,745,834 (GRCm39) V411F probably damaging Het
Ubr4 T C 4: 139,163,613 (GRCm39) probably null Het
Ush2a G A 1: 188,554,935 (GRCm39) C3571Y probably benign Het
Usp8 A G 2: 126,562,030 (GRCm39) M75V possibly damaging Het
Vcan C T 13: 89,852,825 (GRCm39) D712N probably damaging Het
Vcan C A 13: 89,860,386 (GRCm39) R327L probably damaging Het
Vps8 A G 16: 21,253,683 (GRCm39) E8G probably benign Het
Washc5 T C 15: 59,231,258 (GRCm39) D335G probably benign Het
Zbtb39 A G 10: 127,578,704 (GRCm39) N426S probably benign Het
Zfp184 T A 13: 22,133,919 (GRCm39) D55E probably damaging Het
Zfp882 T C 8: 72,668,181 (GRCm39) V336A probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TTGGTTGCTGCCATCCATGACAAAG -3'
(R):5'- TTTCCAACCTGAAGGGCTTCCCAC -3'

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