Incidental Mutation 'IGL01465:Slc7a12'
ID 88096
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 # IGL01465
Quality Score
Status
Chromosome 3
Chromosomal Location 14545757-14570879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 14564383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 85 (S85R)
Ref Sequence ENSEMBL: ENSMUSP00000113566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
AlphaFold Q8VIE6
Predicted Effect probably benign
Transcript: ENSMUST00000037321
AA Change: S356R

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: S356R

DomainStartEndE-ValueType
Pfam:AA_permease_2 7 430 1.7e-54 PFAM
Pfam:AA_permease 11 433 3.4e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120484
AA Change: S85R

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710
AA Change: S85R

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120801
AA Change: S85R

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710
AA Change: S85R

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Gdpd3 A G 7: 126,367,829 (GRCm39) I221V possibly damaging Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Slc7a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02798:Slc7a12 APN 3 14,546,217 (GRCm39) missense probably damaging 1.00
IGL03081:Slc7a12 APN 3 14,546,315 (GRCm39) missense probably benign 0.00
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 2013-11-18