Incidental Mutation 'R9687:Slc7a12'
ID 728892
Institutional Source Beutler Lab
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
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 14545757-14570879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14545960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 35 (Y35C)
Ref Sequence ENSEMBL: ENSMUSP00000038574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
AlphaFold Q8VIE6
Predicted Effect possibly damaging
Transcript: ENSMUST00000037321
AA Change: Y35C

PolyPhen 2 Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: Y35C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,249 (GRCm39) L446P probably damaging Het
Abcc9 T C 6: 142,578,889 (GRCm39) T927A probably benign Het
Abraxas2 A G 7: 132,482,577 (GRCm39) T258A probably benign Het
Akna A T 4: 63,292,674 (GRCm39) C1078* probably null Het
Arhgap24 T A 5: 102,994,022 (GRCm39) F34L probably benign Het
Cpa5 C T 6: 30,614,041 (GRCm39) T61I probably benign Het
Crebrf A G 17: 26,982,601 (GRCm39) *654W probably null Het
Dchs1 C A 7: 105,407,191 (GRCm39) R2134L probably damaging Het
Dcps T C 9: 35,035,978 (GRCm39) N303D probably damaging Het
Ddhd1 C T 14: 45,848,190 (GRCm39) E527K probably damaging Het
Dnah14 T A 1: 181,425,978 (GRCm39) M174K probably benign Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Entrep1 A G 19: 23,957,029 (GRCm39) I327T probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etv1 T C 12: 38,911,361 (GRCm39) Y396H probably damaging Het
Fbxo11 A G 17: 88,316,494 (GRCm39) I293T Het
Gcfc2 T A 6: 81,918,323 (GRCm39) S338T probably damaging Het
Gm10272 T C 10: 77,542,764 (GRCm39) V102A possibly damaging Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gna14 G A 19: 16,582,350 (GRCm39) R206Q Het
Gpm6a T C 8: 55,503,209 (GRCm39) Y153H possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
H2-M10.6 G A 17: 37,125,147 (GRCm39) V313I probably benign Het
Igkv8-19 T C 6: 70,318,005 (GRCm39) I74V probably benign Het
Kif24 A G 4: 41,428,546 (GRCm39) L138P probably damaging Het
Kif26a A G 12: 112,143,625 (GRCm39) E1293G probably damaging Het
Lrp1 A C 10: 127,402,562 (GRCm39) L2203R probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Ncor1 A T 11: 62,260,193 (GRCm39) I519N possibly damaging Het
Obsl1 A G 1: 75,479,670 (GRCm39) V575A probably damaging Het
Or2y15 T C 11: 49,350,518 (GRCm39) F4S probably benign Het
Or5m8 G T 2: 85,822,220 (GRCm39) V20L probably benign Het
Or7a35 T A 10: 78,853,843 (GRCm39) I229N probably damaging Het
Osbpl5 A G 7: 143,247,598 (GRCm39) Y747H possibly damaging Het
Pcdh18 T A 3: 49,711,036 (GRCm39) D93V probably damaging Het
Ppef2 T A 5: 92,386,746 (GRCm39) D397V probably benign Het
Ppfia4 G A 1: 134,245,694 (GRCm39) T620I probably benign Het
Ppp1r9a T C 6: 4,905,978 (GRCm39) S178P probably damaging Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Pxk A G 14: 8,151,567 (GRCm38) I461V possibly damaging Het
Rab18 T A 18: 6,784,622 (GRCm39) N104K probably benign Het
Sars1 A G 3: 108,343,221 (GRCm39) L90P probably benign Het
Scaf8 T A 17: 3,221,410 (GRCm39) I299N unknown Het
Sh3bp2 C T 5: 34,716,977 (GRCm39) P463S probably benign Het
Slc12a3 A G 8: 95,075,208 (GRCm39) N734S possibly damaging Het
Slc12a7 G T 13: 73,938,796 (GRCm39) R191L probably damaging Het
Spmip2 G A 3: 79,337,299 (GRCm39) D36N possibly damaging Het
Susd4 A G 1: 182,722,762 (GRCm39) probably null Het
Taar7f G A 10: 23,925,727 (GRCm39) R107K probably benign Het
Tarm1 T C 7: 3,544,457 (GRCm39) T237A probably benign Het
Tshr C A 12: 91,504,439 (GRCm39) A459E probably damaging Het
Tubgcp5 G T 7: 55,475,327 (GRCm39) probably null Het
Unc13b T C 4: 43,174,920 (GRCm39) V1916A unknown Het
Unc45b A G 11: 82,810,562 (GRCm39) D274G probably damaging Het
Vmn1r230 T A 17: 21,067,604 (GRCm39) Y264* probably null Het
Vmn2r109 G T 17: 20,775,332 (GRCm39) Q132K Het
Zbtb20 A G 16: 43,430,160 (GRCm39) S151G possibly damaging Het
Zbtb22 A C 17: 34,136,850 (GRCm39) T332P probably damaging Het
Zc3h6 A G 2: 128,859,281 (GRCm39) D1104G probably damaging Het
Zfp748 A G 13: 67,690,471 (GRCm39) V263A probably benign Het
Zhx3 A C 2: 160,623,678 (GRCm39) V163G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GGCAACACCCTGTTTGACAG -3'
(R):5'- ACCAATGCCTAGAAAGTGAGC -3'

Sequencing Primer
(F):5'- GACAGGGTTTTTCACAAACTGACAG -3'
(R):5'- TGAGCAAAAAGTTTAATCCAGAGAC -3'
Posted On 2022-10-06