Incidental Mutation 'R0062:Slc7a6'
ID 46629
Institutional Source Beutler Lab
Gene Symbol Slc7a6
Ensembl Gene ENSMUSG00000031904
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 6
Synonyms LAT-2
MMRRC Submission 038354-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.349) question?
Stock # R0062 (G1)
Quality Score 190
Status Validated
Chromosome 8
Chromosomal Location 106895489-106925338 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106916264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 180 (V180E)
Ref Sequence ENSEMBL: ENSMUSP00000034378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421]
AlphaFold Q8BGK6
Predicted Effect probably damaging
Transcript: ENSMUST00000034378
AA Change: V180E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: V180E

DomainStartEndE-ValueType
Pfam:AA_permease_2 45 467 1.2e-66 PFAM
Pfam:AA_permease 50 471 2.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211824
AA Change: V180E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000212377
Predicted Effect probably benign
Transcript: ENSMUST00000212421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213020
Meta Mutation Damage Score 0.7245 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G T 10: 120,614,511 (GRCm39) probably benign Het
4930407I10Rik T A 15: 81,947,267 (GRCm39) I388K probably benign Het
4930407I10Rik T A 15: 81,950,504 (GRCm39) V1467D probably damaging Het
Abi2 T A 1: 60,492,884 (GRCm39) N182K probably benign Het
Adam25 A T 8: 41,207,829 (GRCm39) H365L probably damaging Het
Ankfy1 T A 11: 72,603,030 (GRCm39) Y20N probably damaging Het
Aqp11 C T 7: 97,387,068 (GRCm39) V43M probably benign Het
Arhgef10l A T 4: 140,279,843 (GRCm39) L503Q probably damaging Het
Arhgef28 A T 13: 98,093,150 (GRCm39) I977N possibly damaging Het
Cacna1b A G 2: 24,648,343 (GRCm39) Y161H probably damaging Het
Cacna1c T C 6: 118,579,198 (GRCm39) D1480G probably damaging Het
Clk3 A G 9: 57,659,449 (GRCm39) M533T probably damaging Het
Cnbd1 A G 4: 18,860,504 (GRCm39) I414T possibly damaging Het
Commd3 A T 2: 18,679,514 (GRCm39) probably null Het
Crybg1 G T 10: 43,873,902 (GRCm39) Q1069K probably damaging Het
Dnah8 T A 17: 30,984,685 (GRCm39) F3128I probably damaging Het
Dnmt3b C T 2: 153,514,192 (GRCm39) P382S probably benign Het
Dock1 A G 7: 134,379,224 (GRCm39) probably null Het
Dpysl3 C T 18: 43,466,941 (GRCm39) probably null Het
Ebf2 T A 14: 67,475,989 (GRCm39) probably benign Het
F830045P16Rik T C 2: 129,305,624 (GRCm39) E250G possibly damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fetub T C 16: 22,747,836 (GRCm39) probably benign Het
Fmn2 A T 1: 174,436,015 (GRCm39) probably benign Het
Fryl T C 5: 73,179,621 (GRCm39) I2929V probably benign Het
Gm11232 T A 4: 71,675,112 (GRCm39) Q130L possibly damaging Het
Gm9637 G T 14: 19,402,570 (GRCm38) noncoding transcript Het
Gna15 A G 10: 81,348,239 (GRCm39) probably null Het
Gtf3c5 T C 2: 28,462,198 (GRCm39) probably benign Het
Irs2 G A 8: 11,055,723 (GRCm39) T903I possibly damaging Het
Itga2 G A 13: 115,007,032 (GRCm39) S432L possibly damaging Het
Izumo1 A G 7: 45,276,621 (GRCm39) T395A probably benign Het
Kcnd2 G A 6: 21,727,225 (GRCm39) V593M possibly damaging Het
Kprp T C 3: 92,731,989 (GRCm39) S354G probably damaging Het
Krt72 T C 15: 101,694,443 (GRCm39) K151E probably damaging Het
Letm2 A T 8: 26,077,464 (GRCm39) probably benign Het
Lipe A G 7: 25,097,874 (GRCm39) V23A possibly damaging Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Mef2c A G 13: 83,800,992 (GRCm39) N231D possibly damaging Het
Mtdh T A 15: 34,134,426 (GRCm39) probably benign Het
Mthfd1 G A 12: 76,344,363 (GRCm39) probably benign Het
Nbeal1 C A 1: 60,286,876 (GRCm39) N899K probably benign Het
Noc3l T C 19: 38,803,253 (GRCm39) S129G probably benign Het
Odad2 T A 18: 7,129,593 (GRCm39) probably benign Het
Or10ak14 T C 4: 118,611,100 (GRCm39) I212V probably benign Het
Or2aj6 T C 16: 19,443,167 (GRCm39) M228V probably benign Het
Or4c118 T C 2: 88,974,966 (GRCm39) I134V possibly damaging Het
Or8b1c T A 9: 38,384,554 (GRCm39) D170E probably benign Het
Pik3r6 T A 11: 68,419,635 (GRCm39) Y149N probably damaging Het
Pja2 C A 17: 64,615,966 (GRCm39) V310L probably damaging Het
Plcd3 G A 11: 102,965,720 (GRCm39) A504V probably benign Het
Rint1 G A 5: 23,992,826 (GRCm39) probably benign Het
Ripor3 A G 2: 167,826,358 (GRCm39) probably benign Het
Rpa2 C A 4: 132,505,125 (GRCm39) N251K probably damaging Het
Rttn T C 18: 89,029,090 (GRCm39) probably null Het
Ryr2 C T 13: 11,884,002 (GRCm39) probably null Het
Scara3 T C 14: 66,168,417 (GRCm39) N400S probably damaging Het
Slc8b1 T A 5: 120,659,928 (GRCm39) probably null Het
Slco1a4 G A 6: 141,765,205 (GRCm39) Q346* probably null Het
Stk32b A G 5: 37,618,792 (GRCm39) S229P probably damaging Het
Syde2 A G 3: 145,704,508 (GRCm39) R487G probably benign Het
Tbc1d2b T C 9: 90,104,355 (GRCm39) probably benign Het
Ticrr T C 7: 79,317,654 (GRCm39) V396A probably benign Het
Trrap T C 5: 144,719,003 (GRCm39) probably benign Het
Vmn1r124 A T 7: 20,993,743 (GRCm39) I267K probably benign Het
Vps13a A T 19: 16,646,054 (GRCm39) H1994Q probably damaging Het
Wdr36 T G 18: 32,997,802 (GRCm39) V820G possibly damaging Het
Wdr83 G A 8: 85,806,456 (GRCm39) T114I possibly damaging Het
Zc3h7a T C 16: 10,957,011 (GRCm39) N866S probably damaging Het
Zfc3h1 A G 10: 115,252,658 (GRCm39) K1324E probably benign Het
Other mutations in Slc7a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Slc7a6 APN 8 106,905,872 (GRCm39) missense probably benign 0.01
IGL01149:Slc7a6 APN 8 106,906,232 (GRCm39) missense probably damaging 0.96
IGL02232:Slc7a6 APN 8 106,923,206 (GRCm39) missense possibly damaging 0.87
IGL02972:Slc7a6 APN 8 106,906,059 (GRCm39) missense probably damaging 0.99
IGL03082:Slc7a6 APN 8 106,919,854 (GRCm39) splice site probably null
IGL03108:Slc7a6 APN 8 106,921,149 (GRCm39) missense probably damaging 0.99
R0062:Slc7a6 UTSW 8 106,916,263 (GRCm39) missense possibly damaging 0.79
R0325:Slc7a6 UTSW 8 106,921,149 (GRCm39) missense probably damaging 0.99
R1803:Slc7a6 UTSW 8 106,919,088 (GRCm39) missense possibly damaging 0.70
R1928:Slc7a6 UTSW 8 106,920,120 (GRCm39) unclassified probably benign
R5912:Slc7a6 UTSW 8 106,906,289 (GRCm39) missense probably benign
R6317:Slc7a6 UTSW 8 106,919,099 (GRCm39) missense probably damaging 0.98
R6370:Slc7a6 UTSW 8 106,922,069 (GRCm39) missense probably benign 0.44
R7030:Slc7a6 UTSW 8 106,922,606 (GRCm39) missense possibly damaging 0.64
R7944:Slc7a6 UTSW 8 106,906,239 (GRCm39) missense possibly damaging 0.65
R7945:Slc7a6 UTSW 8 106,906,239 (GRCm39) missense possibly damaging 0.65
R8314:Slc7a6 UTSW 8 106,895,590 (GRCm39) unclassified probably benign
R8369:Slc7a6 UTSW 8 106,919,796 (GRCm39) missense probably damaging 0.99
R8397:Slc7a6 UTSW 8 106,920,165 (GRCm39) missense probably damaging 1.00
R8889:Slc7a6 UTSW 8 106,922,534 (GRCm39) missense probably damaging 1.00
R9109:Slc7a6 UTSW 8 106,922,534 (GRCm39) missense probably damaging 0.96
R9298:Slc7a6 UTSW 8 106,922,534 (GRCm39) missense probably damaging 0.96
RF008:Slc7a6 UTSW 8 106,922,030 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGCCCTAGTAGCTTAGGATGCAGTG -3'
(R):5'- GCTGAAAGATGAAGCTGAGTCCCC -3'

Sequencing Primer
(F):5'- ATGCAGTGTAGGGTATTCATACG -3'
(R):5'- TGAAGCTGAGTCCCCACATC -3'
Posted On 2013-06-11