Incidental Mutation 'R3422:Slc7a3'
ID 267103
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 040640-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R3422 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A G 6: 34,770,900 (GRCm39) T132A probably benign Het
Ahnak A G 19: 8,983,072 (GRCm39) D1452G probably benign Het
Ahnak A G 19: 8,984,116 (GRCm39) D1800G probably benign Het
Atp7b C T 8: 22,518,686 (GRCm39) D51N probably damaging Het
Brca2 A G 5: 150,466,586 (GRCm39) T2117A possibly damaging Het
Ccdc73 A T 2: 104,782,292 (GRCm39) K216M probably null Het
Ccdc73 G A 2: 104,782,293 (GRCm39) probably null Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
D930048N14Rik T C 11: 51,545,785 (GRCm39) *226R probably null Het
Grin1 C T 2: 25,193,926 (GRCm39) G390D probably damaging Het
Ifit1bl1 T G 19: 34,571,350 (GRCm39) N369T probably benign Het
Kcnip1 A G 11: 33,595,594 (GRCm39) V43A probably damaging Het
Kifap3 T A 1: 163,621,595 (GRCm39) I81N probably damaging Het
Me2 C T 18: 73,924,265 (GRCm39) A316T probably damaging Het
Mgat4d T C 8: 84,084,772 (GRCm39) S172P probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nmt2 A G 2: 3,285,425 (GRCm39) E31G possibly damaging Het
Nuak2 A G 1: 132,259,818 (GRCm39) D532G probably benign Het
Nwd2 G T 5: 63,882,536 (GRCm39) V63L possibly damaging Het
Odad2 T C 18: 7,223,523 (GRCm39) probably benign Het
Or1e1 A G 11: 73,245,460 (GRCm39) N294D probably damaging Het
Or4k15b T C 14: 50,271,997 (GRCm39) T288A possibly damaging Het
Otub1 C T 19: 7,176,424 (GRCm39) D237N probably damaging Het
Pik3cg A T 12: 32,254,738 (GRCm39) F416L probably damaging Het
Psmb2 T C 4: 126,571,630 (GRCm39) M28T probably damaging Het
Saysd1 T A 14: 20,132,994 (GRCm39) K54N probably benign Het
Slc5a4a T C 10: 76,012,407 (GRCm39) V359A probably benign Het
Soat2 T C 15: 102,065,244 (GRCm39) probably benign Het
Spink5 A G 18: 44,143,311 (GRCm39) K756R probably benign Het
Tafa1 C A 6: 96,626,099 (GRCm39) D112E probably damaging Het
Tlr4 A G 4: 66,757,773 (GRCm39) I189V probably benign Het
Vsig2 G A 9: 37,452,775 (GRCm39) V195I possibly damaging Het
Zfp217 A G 2: 169,961,937 (GRCm39) F130S possibly damaging Het
Zfp91 G A 19: 12,747,656 (GRCm39) A489V probably benign 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
R3421:Slc7a3 UTSW X 100,124,481 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CACCAAGCAGTGAGGAGCAA -3'
(R):5'- TTGCATATCCAGGTAGATACATGT -3'

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