Incidental Mutation 'IGL02814:Slc7a13'
ID360707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a13
Ensembl Gene ENSMUSG00000041052
Gene Namesolute carrier family 7, (cationic amino acid transporter, y+ system) member 13
SynonymsAGT1, XAT2, AGT-1, 0610009O04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02814
Quality Score
Status
Chromosome4
Chromosomal Location19818725-19842218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 19839387 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 330 (C330Y)
Ref Sequence ENSEMBL: ENSMUSP00000036228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035890]
Predicted Effect probably benign
Transcript: ENSMUST00000035890
AA Change: C330Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: C330Y

DomainStartEndE-ValueType
Pfam:AA_permease_2 17 440 3.3e-44 PFAM
Pfam:AA_permease 21 454 3.7e-19 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700081O15Rik C A 19: 7,420,422 N111K possibly damaging Het
Abca9 A T 11: 110,154,467 F347I possibly damaging Het
Adcy5 A G 16: 35,303,649 T1233A probably benign Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cadps2 T C 6: 23,321,707 E1083G probably damaging Het
Capn8 C A 1: 182,598,771 L224M probably damaging Het
Cdh4 A T 2: 179,780,474 E130D probably benign Het
Cgn G A 3: 94,774,240 T515M probably benign Het
Chrna10 C T 7: 102,112,262 G374D probably benign Het
Chrnb1 T A 11: 69,795,680 Y38F probably damaging Het
Cyld A G 8: 88,744,897 D621G probably benign Het
Cyp4f37 T C 17: 32,634,671 F443S probably benign Het
Dctn1 C A 6: 83,189,914 A152E probably damaging Het
Eml4 T A 17: 83,441,362 Y228* probably null Het
Fbln2 T A 6: 91,265,857 C846* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gart T C 16: 91,623,457 S833G possibly damaging Het
Gda T C 19: 21,428,475 probably null Het
Gjb5 C T 4: 127,355,562 R263Q probably benign Het
Gtf2i T C 5: 134,286,704 K193E probably damaging Het
Hist2h4 C A 3: 96,263,287 K6N probably benign Het
Ints1 C T 5: 139,772,391 E244K possibly damaging Het
Kat14 G A 2: 144,402,463 S412N probably benign Het
Kcnn3 A T 3: 89,521,175 H236L possibly damaging Het
Kif15 T A 9: 123,003,640 I1005K possibly damaging Het
Klrc1 T C 6: 129,678,892 T7A possibly damaging Het
Lcp2 T C 11: 34,071,033 S130P probably damaging Het
Ldha T A 7: 46,850,891 Y133* probably null Het
Lrp2 A G 2: 69,506,736 C1231R probably damaging Het
Lrrn1 T A 6: 107,567,352 V37D probably damaging Het
Mep1a T A 17: 43,477,221 H648L probably benign Het
Mmp25 C T 17: 23,639,762 G272R probably damaging Het
Myh15 A G 16: 49,145,438 probably benign Het
Myl3 G T 9: 110,767,991 E140* probably null Het
Nlrp4f A G 13: 65,185,042 S809P probably damaging Het
Nrde2 T C 12: 100,144,135 I207M probably null Het
Olfr1373 C T 11: 52,144,810 C240Y probably damaging Het
Olfr474 T C 7: 107,954,770 I43T probably benign Het
Olfr541 T C 7: 140,705,133 L294P probably damaging Het
Paics T G 5: 76,962,473 V245G probably damaging Het
Pank1 A G 19: 34,840,855 F95L probably damaging Het
Pde4dip A C 3: 97,767,100 C167G probably damaging Het
Picalm C A 7: 90,191,749 T542K possibly damaging Het
Piezo1 A G 8: 122,498,215 Y651H probably damaging Het
Pikfyve T A 1: 65,250,194 C1208* probably null Het
Pkd1l1 T A 11: 8,902,582 T634S probably benign Het
Rab32 T C 10: 10,546,427 T183A probably benign Het
Rad18 T C 6: 112,644,622 I206V possibly damaging Het
Rbm15b T C 9: 106,885,776 I398V probably benign Het
Rbm28 T C 6: 29,159,726 E101G probably benign Het
Rsf1 T C 7: 97,661,227 L388P probably damaging Het
Scnn1g A G 7: 121,740,365 Y129C probably damaging Het
Spock1 A T 13: 57,587,673 V101E probably damaging Het
Sympk T A 7: 19,053,273 W1029R probably damaging Het
Syne2 T A 12: 75,945,376 H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 Y199N probably damaging Het
Trim10 T A 17: 36,877,336 C481* probably null Het
Vmn2r102 A G 17: 19,677,908 E395G probably damaging Het
Wfs1 A C 5: 36,967,669 V626G possibly damaging Het
Zfp689 A G 7: 127,445,021 S146P possibly damaging Het
Zfp786 T C 6: 47,819,841 H721R probably damaging Het
Other mutations in Slc7a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Slc7a13 APN 4 19839527 missense probably benign 0.00
IGL02491:Slc7a13 APN 4 19841404 missense probably damaging 0.98
IGL02541:Slc7a13 APN 4 19839212 splice site probably benign
R0145:Slc7a13 UTSW 4 19818782 start gained probably benign
R0305:Slc7a13 UTSW 4 19839401 missense probably benign 0.12
R0468:Slc7a13 UTSW 4 19841500 missense probably benign 0.04
R0522:Slc7a13 UTSW 4 19824010 missense probably benign 0.02
R0848:Slc7a13 UTSW 4 19818866 missense probably benign 0.00
R1240:Slc7a13 UTSW 4 19819212 missense probably damaging 1.00
R1623:Slc7a13 UTSW 4 19824031 missense possibly damaging 0.84
R1830:Slc7a13 UTSW 4 19819046 missense probably benign 0.33
R1903:Slc7a13 UTSW 4 19839254 missense probably benign 0.01
R1952:Slc7a13 UTSW 4 19841578 missense probably benign
R2229:Slc7a13 UTSW 4 19839399 missense probably benign 0.43
R2887:Slc7a13 UTSW 4 19819052 missense possibly damaging 0.69
R4175:Slc7a13 UTSW 4 19819492 missense probably null 0.99
R4233:Slc7a13 UTSW 4 19819070 missense probably damaging 0.97
R4764:Slc7a13 UTSW 4 19819390 missense probably benign 0.08
R4941:Slc7a13 UTSW 4 19841467 missense probably damaging 1.00
R5355:Slc7a13 UTSW 4 19839267 missense probably benign 0.43
R6221:Slc7a13 UTSW 4 19839305 missense probably benign 0.00
R6641:Slc7a13 UTSW 4 19839534 missense probably damaging 1.00
R7237:Slc7a13 UTSW 4 19839364 missense probably benign
Posted On2015-12-18