Incidental Mutation 'R3421:Slc7a3'
ID 267068
Institutional Source Beutler Lab
Gene Symbol Slc7a3
Ensembl Gene ENSMUSG00000031297
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
Synonyms SLC7A2, Atrc3, Cat3, SLC7A1
MMRRC Submission 040639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # R3421 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 100122816-100129626 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 100124481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073927] [ENSMUST00000101362] [ENSMUST00000113710]
AlphaFold P70423
Predicted Effect probably benign
Transcript: ENSMUST00000073927
SMART Domains Protein: ENSMUSP00000073582
Gene: ENSMUSG00000031297

DomainStartEndE-ValueType
Pfam:AA_permease_2 32 519 9.3e-52 PFAM
Pfam:AA_permease 36 441 5.8e-34 PFAM
Pfam:AA_permease_C 538 588 3.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101362
SMART Domains Protein: ENSMUSP00000098914
Gene: ENSMUSG00000031297

DomainStartEndE-ValueType
Pfam:AA_permease_2 32 519 9.3e-52 PFAM
Pfam:AA_permease 36 441 5.8e-34 PFAM
Pfam:AA_permease_C 538 588 3.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113710
SMART Domains Protein: ENSMUSP00000109339
Gene: ENSMUSG00000031297

DomainStartEndE-ValueType
Pfam:AA_permease_2 32 519 2.5e-51 PFAM
Pfam:AA_permease 36 441 3.2e-33 PFAM
Pfam:AA_permease_C 538 588 3.7e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126282
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151922
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the system y+ cationic amino acid transporter family. Proteins of this family allow uptake of arginine from extracellular media. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,350,697 (GRCm39) probably null Het
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Amn1 A T 6: 149,070,950 (GRCm39) L196* probably null Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brip1 A T 11: 86,043,495 (GRCm39) Y356* probably null Het
Ccdc40 C T 11: 119,125,605 (GRCm39) P348L probably benign Het
Chrdl2 G A 7: 99,673,075 (GRCm39) C9Y probably damaging Het
Chst4 T C 8: 110,757,038 (GRCm39) D192G probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Dmgdh T C 13: 93,847,869 (GRCm39) V522A probably benign Het
Dtx2 T A 5: 136,041,332 (GRCm39) Y246N probably damaging Het
Gtf2ird1 T A 5: 134,417,354 (GRCm39) M518L probably benign Het
Hoxc6 T A 15: 102,919,327 (GRCm39) W188R probably damaging Het
Igfn1 C T 1: 135,904,655 (GRCm39) probably null Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kif4-ps A T 12: 101,113,230 (GRCm39) E453V probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mr1 T C 1: 155,013,337 (GRCm39) Y80C probably damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4c123 C G 2: 89,126,897 (GRCm39) S239T probably benign Het
Or4g7 A G 2: 111,309,297 (GRCm39) H56R probably benign Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Or8d1 A G 9: 38,766,621 (GRCm39) K88E possibly damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Prex1 A G 2: 166,459,774 (GRCm39) V124A probably damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Ric1 T C 19: 29,544,990 (GRCm39) I230T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc25a17 C T 15: 81,244,901 (GRCm39) V11I probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Slco1a5 A T 6: 142,213,964 (GRCm39) D52E possibly damaging Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Telo2 C T 17: 25,329,726 (GRCm39) R262Q probably damaging Het
Zdhhc14 T A 17: 5,803,366 (GRCm39) *490R probably null Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp712 C T 13: 67,200,456 (GRCm39) V10M probably damaging Het
Other mutations in Slc7a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Slc7a3 APN X 100,123,098 (GRCm39) missense probably benign 0.01
IGL02510:Slc7a3 APN X 100,126,439 (GRCm39) missense probably benign 0.03
R2059:Slc7a3 UTSW X 100,124,373 (GRCm39) missense probably benign
R3422:Slc7a3 UTSW X 100,124,481 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- TCACCAAGCAGTGAGGAGC -3'
(R):5'- TGCATATCCAGGTAGATACATGTAC -3'

Sequencing Primer
(F):5'- TGAGGAGCAAACATAGACAACTC -3'
(R):5'- AATCCCCTGAAGCTAGTTATGGG -3'
Posted On 2015-02-18