Incidental Mutation 'IGL02232:Slc7a6'
ID285742
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a6
Ensembl Gene ENSMUSG00000031904
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 6
SynonymsLAT-2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL02232
Quality Score
Status
Chromosome8
Chromosomal Location106168857-106198706 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 106196574 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 495 (C495Y)
Ref Sequence ENSEMBL: ENSMUSP00000034378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034378] [ENSMUST00000035925] [ENSMUST00000211824] [ENSMUST00000212377] [ENSMUST00000212421]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034378
AA Change: C495Y

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034378
Gene: ENSMUSG00000031904
AA Change: C495Y

DomainStartEndE-ValueType
Pfam:AA_permease_2 45 467 1.2e-66 PFAM
Pfam:AA_permease 50 471 2.1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000035925
SMART Domains Protein: ENSMUSP00000039029
Gene: ENSMUSG00000033106

DomainStartEndE-ValueType
Pfam:DUF1762 190 255 9.4e-13 PFAM
low complexity region 271 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212150
Predicted Effect probably benign
Transcript: ENSMUST00000212377
Predicted Effect probably benign
Transcript: ENSMUST00000212421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213020
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,664,525 V199A possibly damaging Het
Aco1 T C 4: 40,175,996 M210T probably damaging Het
Actr10 G A 12: 70,943,515 E114K probably benign Het
Adam6b T C 12: 113,491,144 M527T probably benign Het
Ahi1 C T 10: 20,981,375 T623M probably damaging Het
Aldh8a1 T C 10: 21,395,646 W424R probably damaging Het
Apeh A T 9: 108,091,872 S299T probably benign Het
Bbs5 A C 2: 69,655,551 I147L probably benign Het
Bmp2k T G 5: 97,031,250 probably benign Het
C2cd6 A G 1: 59,062,492 F336S probably damaging Het
Ccdc129 A G 6: 55,967,937 T548A unknown Het
Cd274 T A 19: 29,382,538 L248M probably damaging Het
Chsy3 T A 18: 59,409,311 M507K possibly damaging Het
Clip2 T C 5: 134,503,130 N572S probably damaging Het
Commd9 A G 2: 101,900,979 T170A probably benign Het
Cpt1c G A 7: 44,960,156 S674L probably damaging Het
Dhx33 C A 11: 70,987,204 R671L probably damaging Het
Dnah5 G A 15: 28,299,240 E1583K probably damaging Het
Eed G T 7: 89,972,285 N51K probably damaging Het
Efcab14 A G 4: 115,760,064 probably benign Het
Ephb2 A C 4: 136,657,451 M884R probably damaging Het
Foxn2 G T 17: 88,463,051 A109S probably benign Het
Fut1 A T 7: 45,619,447 D220V probably damaging Het
Gm6468 C T 5: 95,281,207 noncoding transcript Het
Gm7964 A T 7: 83,756,307 noncoding transcript Het
Gm9772 C T 17: 22,007,050 probably benign Het
Golph3 G T 15: 12,349,492 M199I probably benign Het
Itpr1 A G 6: 108,417,923 N1666D probably damaging Het
Kif12 C T 4: 63,166,495 E529K probably benign Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc52 T A 1: 167,466,380 N112I probably damaging Het
Msi1 T A 5: 115,441,447 probably null Het
Nasp T G 4: 116,604,800 E170A probably damaging Het
Necab2 T A 8: 119,462,652 V187E probably damaging Het
Obscn T C 11: 59,038,978 E5790G probably damaging Het
Olfr461 A G 6: 40,544,046 L311P probably damaging Het
Olfr872 A T 9: 20,260,215 D125V probably damaging Het
Pard3b C T 1: 62,166,382 T445I probably damaging Het
Pcdh10 A G 3: 45,380,942 I564V probably benign Het
Pcdhb22 T A 18: 37,520,549 L690Q probably damaging Het
Pemt T A 11: 59,976,854 T115S probably damaging Het
Plcl2 A G 17: 50,606,641 N226S possibly damaging Het
Ppp6r1 A G 7: 4,633,342 S750P probably damaging Het
Prtg T C 9: 72,851,489 V375A probably damaging Het
Psd3 A C 8: 67,904,145 M673R probably damaging Het
Ptprt T C 2: 161,530,517 I1392V probably damaging Het
Rlf G A 4: 121,182,614 T200I probably benign Het
Robo1 G A 16: 72,971,984 G479D possibly damaging Het
Rpe65 A G 3: 159,604,351 D87G possibly damaging Het
Sema3g T C 14: 31,221,224 V148A probably damaging Het
Sgms2 G A 3: 131,323,184 P341S probably benign Het
Skint7 A T 4: 111,982,028 Q173L possibly damaging Het
Slc2a9 G A 5: 38,436,670 A150V probably benign Het
Slc35c2 A G 2: 165,282,881 L58P probably damaging Het
Smurf1 G A 5: 144,886,438 P458L probably damaging Het
Spag1 C T 15: 36,221,564 T601I probably benign Het
Spink8 A T 9: 109,820,597 Q49L possibly damaging Het
Spout1 A T 2: 30,175,254 Y284N probably damaging Het
Srrm1 A T 4: 135,353,116 M1K probably null Het
Stxbp5l A G 16: 37,329,895 L116P probably damaging Het
Tlr9 T C 9: 106,224,937 F476L probably damaging Het
Tmem41b A G 7: 109,978,753 V108A probably damaging Het
Tra2b A G 16: 22,249,040 probably benign Het
Trio G T 15: 27,902,561 H271Q probably benign Het
Ttn A G 2: 76,892,919 probably benign Het
Usp51 A T X: 153,008,673 H421L probably damaging Het
Vmn2r29 A T 7: 7,241,811 W355R probably damaging Het
Vpreb1 T C 16: 16,868,739 N96D possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zp3r C A 1: 130,596,667 C213F probably damaging Het
Other mutations in Slc7a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:Slc7a6 APN 8 106179240 missense probably benign 0.01
IGL01149:Slc7a6 APN 8 106179600 missense probably damaging 0.96
IGL02972:Slc7a6 APN 8 106179427 missense probably damaging 0.99
IGL03082:Slc7a6 APN 8 106193222 unclassified probably null
IGL03108:Slc7a6 APN 8 106194517 missense probably damaging 0.99
R0062:Slc7a6 UTSW 8 106189631 missense possibly damaging 0.79
R0062:Slc7a6 UTSW 8 106189632 missense probably damaging 0.97
R0325:Slc7a6 UTSW 8 106194517 missense probably damaging 0.99
R1803:Slc7a6 UTSW 8 106192456 missense possibly damaging 0.70
R1928:Slc7a6 UTSW 8 106193488 unclassified probably benign
R5912:Slc7a6 UTSW 8 106179657 missense probably benign
R6317:Slc7a6 UTSW 8 106192467 missense probably damaging 0.98
R6370:Slc7a6 UTSW 8 106195437 missense probably benign 0.44
R7030:Slc7a6 UTSW 8 106195974 missense possibly damaging 0.64
R7944:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R7945:Slc7a6 UTSW 8 106179607 missense possibly damaging 0.65
R8369:Slc7a6 UTSW 8 106193164 missense probably damaging 0.99
R8397:Slc7a6 UTSW 8 106193533 missense probably damaging 1.00
RF008:Slc7a6 UTSW 8 106195398 missense probably benign 0.13
Posted On2015-04-16