Incidental Mutation 'IGL02491:Slc7a13'
ID295648
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 #IGL02491
Quality Score
Status
Chromosome4
Chromosomal Location19818725-19842218 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19841404 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 417 (V417D)
Ref Sequence ENSEMBL: ENSMUSP00000036228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035890]
Predicted Effect probably damaging
Transcript: ENSMUST00000035890
AA Change: V417D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036228
Gene: ENSMUSG00000041052
AA Change: V417D

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik T C 5: 118,259,095 Y130H probably benign Het
Abca6 T C 11: 110,176,968 probably benign Het
Acacb T A 5: 114,192,105 I443N probably damaging Het
C1qtnf3 A T 15: 10,971,981 I118F possibly damaging Het
Carmil3 C T 14: 55,504,517 A1148V probably benign Het
Ccdc62 A T 5: 123,961,315 S677C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col11a2 C A 17: 34,064,207 probably benign Het
Cpsf7 A G 19: 10,539,637 I368V possibly damaging Het
Csmd2 T C 4: 128,534,257 S2934P probably benign Het
Csmd3 A G 15: 47,914,115 probably benign Het
Cubn A G 2: 13,321,228 Y2709H probably damaging Het
Cyp2d12 T A 15: 82,558,481 L375Q possibly damaging Het
Etv4 A T 11: 101,783,965 probably null Het
Exph5 T A 9: 53,375,043 D1141E possibly damaging Het
Fbxo16 T A 14: 65,321,287 H298Q probably benign Het
Fbxw21 T A 9: 109,143,819 Y349F probably benign Het
Foxs1 G A 2: 152,932,801 R111C probably damaging Het
Galnt15 T A 14: 32,056,316 L436Q probably damaging Het
Gbf1 T C 19: 46,262,540 probably benign Het
Gm8237 A T 14: 5,863,577 C29* probably null Het
Hcn1 A G 13: 117,810,040 D317G unknown Het
Itgam A G 7: 128,116,018 N877D possibly damaging Het
Kcnma1 T C 14: 23,311,689 R1047G probably damaging Het
Klhdc3 T C 17: 46,677,300 R180G possibly damaging Het
Lpcat2 T C 8: 92,874,251 V241A probably damaging Het
Mnat1 A G 12: 73,123,908 N24S probably null Het
Mprip A G 11: 59,770,031 T967A probably benign Het
Mtf1 T C 4: 124,838,579 F477L probably benign Het
Naaladl1 A G 19: 6,109,718 E393G possibly damaging Het
Olfr1328 A T 4: 118,934,161 L229H probably damaging Het
Olfr513 A G 7: 108,755,114 K86R probably damaging Het
Olfr521 A G 7: 99,767,333 E57G possibly damaging Het
Pcdhb6 A T 18: 37,335,682 D552V probably damaging Het
Pglyrp3 C T 3: 92,014,637 S4F possibly damaging Het
Pramef12 A T 4: 144,394,752 M234K probably damaging Het
Prss27 A T 17: 24,044,255 probably benign Het
Slc5a9 A G 4: 111,896,352 S51P probably damaging Het
Slc6a4 A G 11: 77,027,208 Y592C probably damaging Het
Syne2 A G 12: 76,072,179 T5857A probably benign Het
Thap1 A C 8: 26,160,857 S52R probably damaging Het
Thsd4 T C 9: 60,000,018 N158S probably damaging Het
Tmem147 A T 7: 30,728,201 probably benign Het
Trdmt1 G A 2: 13,516,672 A311V probably benign Het
U2surp T A 9: 95,490,220 R296S probably damaging Het
Upf2 A G 2: 6,026,164 D805G unknown Het
Usp34 T A 11: 23,432,630 H2057Q probably damaging Het
Vmn2r110 T A 17: 20,596,138 D41V probably damaging Het
Vmn2r16 T A 5: 109,339,837 L192* probably null Het
Vnn3 T A 10: 23,865,918 S374T probably benign Het
Wdr62 A C 7: 30,242,759 D1089E probably benign Het
Xdh T A 17: 73,886,464 D1279V probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518b A G 5: 38,673,780 I294T possibly damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Slc7a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01769:Slc7a13 APN 4 19839527 missense probably benign 0.00
IGL02541:Slc7a13 APN 4 19839212 splice site probably benign
IGL02814:Slc7a13 APN 4 19839387 missense 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 On2015-04-16