Incidental Mutation 'IGL02510:Slc7a3'
ID 296500
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.195) question?
Stock # IGL02510
Quality Score
Status
Chromosome X
Chromosomal Location 100122816-100129626 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100126439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 222 (E222G)
Ref Sequence ENSEMBL: ENSMUSP00000109339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073927] [ENSMUST00000101362] [ENSMUST00000113710]
AlphaFold P70423
Predicted Effect probably benign
Transcript: ENSMUST00000073927
AA Change: E222G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000073582
Gene: ENSMUSG00000031297
AA Change: E222G

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
AA Change: E222G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000098914
Gene: ENSMUSG00000031297
AA Change: E222G

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
AA Change: E222G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109339
Gene: ENSMUSG00000031297
AA Change: E222G

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
Coding Region Coverage
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 G A 1: 171,078,959 (GRCm39) S193N probably benign Het
Arrdc1 C A 2: 24,825,112 (GRCm39) V16F probably damaging Het
Bhmt1b A G 18: 87,775,653 (GRCm39) Q392R probably benign Het
Bsx A T 9: 40,785,517 (GRCm39) Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 (GRCm39) T253A probably benign Het
Cdkl3 T C 11: 51,902,097 (GRCm39) L102P probably damaging Het
Cgnl1 G T 9: 71,632,639 (GRCm39) N237K probably benign Het
Cldn14 T A 16: 93,716,844 (GRCm39) M1L probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Col7a1 C A 9: 108,802,299 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dhrs2 G A 14: 55,473,532 (GRCm39) V64M probably damaging Het
Disp3 G A 4: 148,337,158 (GRCm39) H886Y probably benign Het
Dst G A 1: 34,268,332 (GRCm39) probably null Het
Fnbp4 T C 2: 90,581,819 (GRCm39) V215A probably benign Het
Fzd9 A G 5: 135,278,469 (GRCm39) L472P probably damaging Het
Hpd C T 5: 123,319,973 (GRCm39) R15Q possibly damaging Het
Htra2 A G 6: 83,028,592 (GRCm39) V412A probably damaging Het
Ift80 A G 3: 68,805,876 (GRCm39) F722S probably benign Het
Kcnq2 T C 2: 180,723,154 (GRCm39) T741A probably benign Het
Kl A C 5: 150,912,466 (GRCm39) E738D probably damaging Het
Klra4 T A 6: 130,036,506 (GRCm39) I178L probably damaging Het
Klra9 T C 6: 130,168,185 (GRCm39) E27G probably benign Het
Kntc1 T C 5: 123,957,125 (GRCm39) Y2145H probably benign Het
Mbd5 T A 2: 49,147,041 (GRCm39) M417K probably benign Het
Med31 C T 11: 72,102,882 (GRCm39) M75I probably benign Het
Mpeg1 A T 19: 12,438,788 (GRCm39) D82V probably damaging Het
Msto1 A G 3: 88,817,652 (GRCm39) Y439H probably damaging Het
Or1e17 G A 11: 73,831,831 (GRCm39) G253E probably damaging Het
Or1j15 T C 2: 36,458,693 (GRCm39) S28P possibly damaging Het
Or2av9 T C 11: 58,381,365 (GRCm39) Y72C probably damaging Het
Or5p64 T A 7: 107,855,348 (GRCm39) probably benign Het
Prtg G A 9: 72,798,151 (GRCm39) V706M probably damaging Het
Sfxn2 G T 19: 46,576,711 (GRCm39) A186S probably benign Het
Slc12a5 A T 2: 164,824,728 (GRCm39) probably benign Het
Stox1 A T 10: 62,499,826 (GRCm39) H911Q probably benign Het
Sult3a2 A T 10: 33,642,435 (GRCm39) N289K probably benign Het
Supt20 A G 3: 54,622,945 (GRCm39) probably benign Het
Tchh A G 3: 93,351,385 (GRCm39) E275G unknown Het
Tectb A T 19: 55,179,943 (GRCm39) N263I probably damaging Het
Tsga10 C T 1: 37,800,066 (GRCm39) R608Q possibly damaging Het
Ttyh3 A G 5: 140,615,219 (GRCm39) Y390H probably damaging Het
Utf1 C A 7: 139,523,929 (GRCm39) S48* probably null Het
Zfp358 G A 8: 3,546,786 (GRCm39) G456D probably benign Het
Zup1 A G 10: 33,806,150 (GRCm39) probably null Het
Other mutations in Slc7a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Slc7a3 APN X 100,123,098 (GRCm39) missense probably benign 0.01
R2059:Slc7a3 UTSW X 100,124,373 (GRCm39) missense probably benign
R3421:Slc7a3 UTSW X 100,124,481 (GRCm39) splice site probably benign
R3422:Slc7a3 UTSW X 100,124,481 (GRCm39) splice site probably benign
Posted On 2015-04-16