Incidental Mutation 'R6136:Slc7a12'
ID488336
Institutional Source Beutler Lab
Gene Symbol Slc7a12
Ensembl Gene ENSMUSG00000039710
Gene Namesolute carrier family 7 (cationic amino acid transporter, y+ system), member 12
SynonymsAsc-2, asc-type amino acid transporter 2, XAT1
MMRRC Submission 044283-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #R6136 (G1)
Quality Score225.009
Status Validated
Chromosome3
Chromosomal Location14480697-14505830 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 14499126 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 20 (L20I)
Ref Sequence ENSEMBL: ENSMUSP00000113566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
Predicted Effect probably benign
Transcript: ENSMUST00000037321
AA Change: L291I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: L291I

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
AA Change: L20I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710
AA Change: L20I

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120801
AA Change: L20I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710
AA Change: L20I

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,972,853 S729P probably damaging Het
3100002H09Rik C A 4: 124,610,388 G124C unknown Het
3425401B19Rik A T 14: 32,662,282 D575E possibly damaging Het
Abca15 A T 7: 120,340,049 H222L possibly damaging Het
Arhgef18 T C 8: 3,454,507 V1013A probably benign Het
Arsj T C 3: 126,364,775 M1T probably null Het
Atp10a A C 7: 58,828,340 Q1377P probably benign Het
Atrip T A 9: 109,071,736 E178D probably damaging Het
Chadl T C 15: 81,693,554 N625D probably benign Het
Chrng G A 1: 87,209,801 V320I probably benign Het
Cox11 T C 11: 90,644,395 L84P probably damaging Het
Dchs1 T G 7: 105,760,925 T1747P probably benign Het
Dnah12 A G 14: 26,875,270 K3529E probably damaging Het
Ecd T C 14: 20,320,791 N620S probably damaging Het
Fbn1 T A 2: 125,403,132 K278N possibly damaging Het
Fcho2 T C 13: 98,789,767 K103E probably damaging Het
Fzd7 T G 1: 59,483,260 F101V probably damaging Het
Galnt13 G T 2: 54,516,479 probably benign Het
Gif G A 19: 11,750,285 A158T probably damaging Het
Gm32647 C T 7: 94,475,732 Het
Gm5624 A T 14: 44,559,876 D152E probably benign Het
Heatr6 T A 11: 83,772,503 V664E possibly damaging Het
Hpgd A G 8: 56,294,952 D36G probably damaging Het
Ifnlr1 A G 4: 135,703,797 T199A possibly damaging Het
Kalrn T G 16: 34,357,111 D228A probably damaging Het
Miox T C 15: 89,335,321 M47T probably damaging Het
Nampt A T 12: 32,830,302 I65F probably benign Het
Ncf1 T C 5: 134,226,633 K135E probably damaging Het
Nop53 G A 7: 15,938,389 Q452* probably null Het
Olfr1037 A G 2: 86,084,901 L292S probably damaging Het
Pik3cg A G 12: 32,204,359 V543A probably benign Het
Ralgds T C 2: 28,550,565 probably null Het
Rap1a A G 3: 105,750,282 V7A probably damaging Het
Rasal1 T C 5: 120,675,478 V639A possibly damaging Het
Rassf8 A G 6: 145,815,656 N236S probably benign Het
Rbm47 G C 5: 66,026,283 R326G probably damaging Het
Sbno1 T C 5: 124,378,491 D1272G probably benign Het
Setx A G 2: 29,148,027 D1508G probably benign Het
Slc1a1 T A 19: 28,905,410 L358Q probably damaging Het
Spats2l C T 1: 57,902,143 T187M probably damaging Het
Specc1l A G 10: 75,246,660 D647G probably benign Het
Steap4 G A 5: 7,978,562 R380Q probably damaging Het
Syne2 A G 12: 75,905,325 S456G probably benign Het
Tfcp2 G T 15: 100,512,313 T391N probably damaging Het
Tns2 T A 15: 102,107,030 D122E probably damaging Het
Tshr A G 12: 91,538,234 M649V probably benign Het
Ubr3 A G 2: 69,993,763 T1440A probably benign Het
Urb2 A G 8: 124,030,092 D846G probably benign Het
Vmn1r202 T C 13: 22,501,462 T262A possibly damaging Het
Vmn2r61 G T 7: 42,267,031 W356L probably damaging Het
Wdr11 T A 7: 129,618,703 M605K possibly damaging Het
Zfp647 G A 15: 76,912,085 P125L probably damaging Het
Other mutations in Slc7a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Slc7a12 APN 3 14499323 missense possibly damaging 0.46
IGL02798:Slc7a12 APN 3 14481157 missense probably damaging 1.00
IGL03081:Slc7a12 APN 3 14481255 missense probably benign 0.00
R1441:Slc7a12 UTSW 3 14497354 missense possibly damaging 0.89
R1672:Slc7a12 UTSW 3 14499277 missense possibly damaging 0.77
R2021:Slc7a12 UTSW 3 14497333 missense probably damaging 0.99
R2209:Slc7a12 UTSW 3 14481064 missense possibly damaging 0.81
R5471:Slc7a12 UTSW 3 14480875 missense probably damaging 1.00
R6154:Slc7a12 UTSW 3 14481034 missense probably damaging 0.99
R6169:Slc7a12 UTSW 3 14497328 missense probably damaging 1.00
R6180:Slc7a12 UTSW 3 14481140 intron probably null
R6714:Slc7a12 UTSW 3 14481320 missense probably benign 0.14
R6723:Slc7a12 UTSW 3 14499197 missense probably benign 0.07
R7003:Slc7a12 UTSW 3 14505520 missense probably damaging 0.99
R7230:Slc7a12 UTSW 3 14505381 missense probably damaging 1.00
R7651:Slc7a12 UTSW 3 14481449 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCACTGAGTTTCCTTGAAGTTC -3'
(R):5'- GCAACCCGATCATTTGCAGC -3'

Sequencing Primer
(F):5'- TAGACTCCTCCTAGAAAGAATTTGCC -3'
(R):5'- CCCGATCATTTGCAGCAAATTTATAC -3'
Posted On2017-10-10