Incidental Mutation 'IGL02510:Slc7a3'
ID296500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a3
Ensembl Gene ENSMUSG00000031297
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 3
SynonymsSLC7A2, SLC7A1, Cat3, Atrc3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #IGL02510
Quality Score
Status
ChromosomeX
Chromosomal Location101079210-101086020 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101082833 bp
ZygosityHeterozygous
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]
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: 171,251,390 S193N probably benign Het
Arrdc1 C A 2: 24,935,100 V16F probably damaging Het
Bsx A T 9: 40,874,221 Q15L possibly damaging Het
Casp8ap2 A G 4: 32,639,704 T253A probably benign Het
Cdkl3 T C 11: 52,011,270 L102P probably damaging Het
Cgnl1 G T 9: 71,725,357 N237K probably benign Het
Cldn14 T A 16: 93,919,956 M1L probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Col7a1 C A 9: 108,973,231 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dhrs2 G A 14: 55,236,075 V64M probably damaging Het
Disp3 G A 4: 148,252,701 H886Y probably benign Het
Dst G A 1: 34,229,251 probably null Het
Fnbp4 T C 2: 90,751,475 V215A probably benign Het
Fzd9 A G 5: 135,249,615 L472P probably damaging Het
Gm5096 A G 18: 87,757,529 Q392R probably benign Het
Hpd C T 5: 123,181,910 R15Q possibly damaging Het
Htra2 A G 6: 83,051,611 V412A probably damaging Het
Ift80 A G 3: 68,898,543 F722S probably benign Het
Kcnq2 T C 2: 181,081,361 T741A probably benign Het
Kl A C 5: 150,989,001 E738D probably damaging Het
Klra4 T A 6: 130,059,543 I178L probably damaging Het
Klra9 T C 6: 130,191,222 E27G probably benign Het
Kntc1 T C 5: 123,819,062 Y2145H probably benign Het
Mbd5 T A 2: 49,257,029 M417K probably benign Het
Med31 C T 11: 72,212,056 M75I probably benign Het
Mpeg1 A T 19: 12,461,424 D82V probably damaging Het
Msto1 A G 3: 88,910,345 Y439H probably damaging Het
Olfr23 G A 11: 73,941,005 G253E probably damaging Het
Olfr332 T C 11: 58,490,539 Y72C probably damaging Het
Olfr344 T C 2: 36,568,681 S28P possibly damaging Het
Olfr488 T A 7: 108,256,141 probably benign Het
Prtg G A 9: 72,890,869 V706M probably damaging Het
Sfxn2 G T 19: 46,588,272 A186S probably benign Het
Slc12a5 A T 2: 164,982,808 probably benign Het
Stox1 A T 10: 62,664,047 H911Q probably benign Het
Sult3a2 A T 10: 33,766,439 N289K probably benign Het
Supt20 A G 3: 54,715,524 probably benign Het
Tchh A G 3: 93,444,078 E275G unknown Het
Tectb A T 19: 55,191,511 N263I probably damaging Het
Tsga10 C T 1: 37,760,985 R608Q possibly damaging Het
Ttyh3 A G 5: 140,629,464 Y390H probably damaging Het
Utf1 C A 7: 139,944,016 S48* probably null Het
Zfp358 G A 8: 3,496,786 G456D probably benign Het
Zufsp A G 10: 33,930,154 probably null Het
Other mutations in Slc7a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02135:Slc7a3 APN X 101079492 missense probably benign 0.01
R2059:Slc7a3 UTSW X 101080767 missense probably benign
R3421:Slc7a3 UTSW X 101080875 splice site probably benign
R3422:Slc7a3 UTSW X 101080875 splice site probably benign
Posted On2015-04-16