Incidental Mutation 'R7807:Slc3a1'
ID 600897
Institutional Source Beutler Lab
Gene Symbol Slc3a1
Ensembl Gene ENSMUSG00000024131
Gene Name solute carrier family 3, member 1
Synonyms NTAA, D2H
MMRRC Submission 045862-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7807 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 85335804-85371664 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85371371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 641 (E641G)
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: E641G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000024944
Gene: ENSMUSG00000024131
AA Change: E641G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C A 9: 21,447,276 (GRCm39) T146K probably benign Het
Alms1 T A 6: 85,599,958 (GRCm39) S1595T possibly damaging Het
Ankrd44 A T 1: 54,831,635 (GRCm39) I56N probably damaging Het
Anln C A 9: 22,272,176 (GRCm39) V648F probably damaging Het
Arhgap29 A G 3: 121,807,981 (GRCm39) D1053G probably benign Het
Baalc T C 15: 38,797,412 (GRCm39) S68P probably benign Het
Begain T C 12: 109,004,856 (GRCm39) D52G probably damaging Het
Blmh A G 11: 76,837,040 (GRCm39) I41V probably benign Het
Bpifc T A 10: 85,812,114 (GRCm39) I365F possibly damaging Het
C2 G T 17: 35,095,347 (GRCm39) S199R possibly damaging Het
Ccbe1 T A 18: 66,199,828 (GRCm39) H298L probably damaging Het
Ccdc112 T A 18: 46,423,826 (GRCm39) K304I probably damaging Het
Ccdc15 T C 9: 37,226,678 (GRCm39) E432G probably benign Het
Cdh13 T A 8: 119,010,594 (GRCm39) M1K probably null Het
Cipc T C 12: 87,008,899 (GRCm39) S253P possibly damaging Het
Clcn1 A G 6: 42,287,282 (GRCm39) probably null Het
Clock A T 5: 76,390,982 (GRCm39) N273K probably benign Het
Cyp19a1 T C 9: 54,074,126 (GRCm39) D476G probably benign Het
Dnaaf9 T C 2: 130,552,785 (GRCm39) K1092E probably damaging Het
Dnah7b A G 1: 46,253,527 (GRCm39) I1811V probably benign Het
Fat1 C A 8: 45,495,010 (GRCm39) T4091K probably damaging Het
Gm10340 T A 14: 14,826,724 (GRCm39) N64K probably damaging Het
Hectd1 G A 12: 51,792,171 (GRCm39) R2523C probably damaging Het
Hgf A G 5: 16,782,009 (GRCm39) H244R probably damaging Het
Hgs G T 11: 120,370,760 (GRCm39) A567S probably damaging Het
Igdcc4 T C 9: 65,041,077 (GRCm39) V1036A probably benign Het
Keg1 G A 19: 12,691,998 (GRCm39) probably null Het
Klhl8 A T 5: 104,023,932 (GRCm39) L156Q probably damaging Het
Lmln T C 16: 32,927,501 (GRCm39) Y521H probably benign Het
Lrrc7 A G 3: 157,866,124 (GRCm39) S1206P probably damaging Het
Mad1l1 T A 5: 140,074,541 (GRCm39) I550F probably benign Het
Marf1 C T 16: 13,971,753 (GRCm39) W28* probably null Het
Mfsd11 T G 11: 116,754,733 (GRCm39) S215A probably benign Het
Mpped2 C A 2: 106,575,085 (GRCm39) H57N possibly damaging Het
Mslnl A G 17: 25,965,751 (GRCm39) M542V probably benign Het
Myh6 G T 14: 55,179,897 (GRCm39) H1903Q probably damaging Het
Neo1 T C 9: 58,897,777 (GRCm39) T60A probably benign Het
Npm2 T A 14: 70,889,947 (GRCm39) probably null Het
Or5b123 C A 19: 13,597,285 (GRCm39) T210K probably damaging Het
Or5d20-ps1 T C 2: 87,931,909 (GRCm39) S141G probably benign Het
Or7a39 T A 10: 78,715,043 (GRCm39) S12R probably benign Het
Pax9 A T 12: 56,743,850 (GRCm39) I166F possibly damaging Het
Pcsk9 A G 4: 106,321,092 (GRCm39) S6P possibly damaging Het
Pikfyve A G 1: 65,309,101 (GRCm39) Y1893C probably damaging Het
Pirb T C 7: 3,722,864 (GRCm39) T43A possibly damaging Het
Pou3f1 A G 4: 124,552,074 (GRCm39) D192G possibly damaging Het
Pus3 C G 9: 35,478,021 (GRCm39) R418G probably damaging Het
Rexo1 C T 10: 80,385,970 (GRCm39) V363I probably benign Het
Sdcbp A G 4: 6,393,688 (GRCm39) T269A probably damaging Het
Sele T C 1: 163,881,462 (GRCm39) V523A probably benign Het
Serpinb8 T A 1: 107,532,457 (GRCm39) M183K probably damaging Het
Sh2d4a T G 8: 68,735,033 (GRCm39) S51A probably benign Het
Siglec15 A G 18: 78,090,696 (GRCm39) S201P probably damaging Het
Slc10a5 C T 3: 10,400,529 (GRCm39) V44I probably benign Het
Slc16a13 A G 11: 70,111,388 (GRCm39) V39A probably damaging Het
Slc25a13 G A 6: 6,117,164 (GRCm39) R184W probably damaging Het
Slc35f5 T A 1: 125,512,278 (GRCm39) D359E probably damaging Het
Slf1 T C 13: 77,194,823 (GRCm39) D834G probably damaging Het
Spata31f1e A C 4: 42,793,885 (GRCm39) H82Q probably benign Het
Stim1 T C 7: 102,076,348 (GRCm39) I433T probably damaging Het
Stra6 T A 9: 58,057,444 (GRCm39) I418K probably damaging Het
Tanc2 A G 11: 105,758,480 (GRCm39) N747S probably benign Het
Tet2 T C 3: 133,192,302 (GRCm39) T711A possibly damaging Het
Trpm6 T C 19: 18,807,220 (GRCm39) I988T probably benign Het
Ttc41 T A 10: 86,612,495 (GRCm39) I1256N probably benign Het
Uba2 T C 7: 33,862,638 (GRCm39) D100G possibly damaging Het
Vmn1r43 A G 6: 89,847,219 (GRCm39) I89T probably benign Het
Vmn2r58 T A 7: 41,521,910 (GRCm39) Y62F probably benign Het
Ylpm1 C T 12: 85,060,855 (GRCm39) Q428* probably null Het
Zcrb1 T C 15: 93,289,002 (GRCm39) D88G probably damaging Het
Zmym1 A C 4: 126,941,667 (GRCm39) I907S probably damaging 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
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
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'- TGGACGGCATAGATAACGTC -3'
(R):5'- AACAGTGCATTCGTGCTACAG -3'

Sequencing Primer
(F):5'- GGACGGCATAGATAACGTCTTCCTC -3'
(R):5'- GAATTGATGCCATTCATGAGTCTGC -3'
Posted On 2019-11-26