Incidental Mutation 'IGL03081:Slc7a12'
ID 417850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a12
Ensembl Gene ENSMUSG00000039710
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 12
Synonyms XAT1, Asc-2, asc-type amino acid transporter 2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL03081
Quality Score
Status
Chromosome 3
Chromosomal Location 14545757-14570879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14546315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 153 (F153L)
Ref Sequence ENSEMBL: ENSMUSP00000038574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
AlphaFold Q8VIE6
Predicted Effect probably benign
Transcript: ENSMUST00000037321
AA Change: F153L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: F153L

DomainStartEndE-ValueType
Pfam:AA_permease_2 7 430 1.7e-54 PFAM
Pfam:AA_permease 11 433 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120484
SMART Domains Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120801
SMART Domains Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably damaging Het
Other mutations in Slc7a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Slc7a12 APN 3 14,564,383 (GRCm39) missense possibly damaging 0.46
IGL02798:Slc7a12 APN 3 14,546,217 (GRCm39) missense probably damaging 1.00
R1441:Slc7a12 UTSW 3 14,562,414 (GRCm39) missense possibly damaging 0.89
R1672:Slc7a12 UTSW 3 14,564,337 (GRCm39) missense possibly damaging 0.77
R2021:Slc7a12 UTSW 3 14,562,393 (GRCm39) missense probably damaging 0.99
R2209:Slc7a12 UTSW 3 14,546,124 (GRCm39) missense possibly damaging 0.81
R5471:Slc7a12 UTSW 3 14,545,935 (GRCm39) missense probably damaging 1.00
R6136:Slc7a12 UTSW 3 14,564,186 (GRCm39) missense probably benign 0.01
R6154:Slc7a12 UTSW 3 14,546,094 (GRCm39) missense probably damaging 0.99
R6169:Slc7a12 UTSW 3 14,562,388 (GRCm39) missense probably damaging 1.00
R6180:Slc7a12 UTSW 3 14,546,200 (GRCm39) splice site probably null
R6714:Slc7a12 UTSW 3 14,546,380 (GRCm39) missense probably benign 0.14
R6723:Slc7a12 UTSW 3 14,564,257 (GRCm39) missense probably benign 0.07
R7003:Slc7a12 UTSW 3 14,570,580 (GRCm39) missense probably damaging 0.99
R7230:Slc7a12 UTSW 3 14,570,441 (GRCm39) missense probably damaging 1.00
R7651:Slc7a12 UTSW 3 14,546,509 (GRCm39) missense probably benign 0.01
R8429:Slc7a12 UTSW 3 14,562,342 (GRCm39) missense probably benign 0.02
R9164:Slc7a12 UTSW 3 14,564,360 (GRCm39) missense probably damaging 0.99
R9259:Slc7a12 UTSW 3 14,546,376 (GRCm39) missense probably damaging 1.00
R9344:Slc7a12 UTSW 3 14,570,491 (GRCm39) missense probably damaging 1.00
R9431:Slc7a12 UTSW 3 14,546,035 (GRCm39) missense probably damaging 1.00
R9563:Slc7a12 UTSW 3 14,564,360 (GRCm39) missense possibly damaging 0.91
R9687:Slc7a12 UTSW 3 14,545,960 (GRCm39) missense possibly damaging 0.75
Posted On 2016-08-02