Incidental Mutation 'R9164:Slc7a12'
ID 695895
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 Asc-2, asc-type amino acid transporter 2, XAT1
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock # R9164 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 14480697-14505830 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14499300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 349 (I349F)
Ref Sequence ENSEMBL: ENSMUSP00000038574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037321] [ENSMUST00000120484] [ENSMUST00000120801]
AlphaFold Q8VIE6
Predicted Effect probably damaging
Transcript: ENSMUST00000037321
AA Change: I349F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038574
Gene: ENSMUSG00000039710
AA Change: I349F

DomainStartEndE-ValueType
Pfam:AA_permease_2 7 430 1.7e-54 PFAM
Pfam:AA_permease 11 433 3.4e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120484
AA Change: I78F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112799
Gene: ENSMUSG00000039710
AA Change: I78F

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120801
AA Change: I78F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113566
Gene: ENSMUSG00000039710
AA Change: I78F

DomainStartEndE-ValueType
Pfam:AA_permease_2 1 173 5.3e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,328,157 E3112D probably damaging Het
Abtb2 C T 2: 103,711,484 T847I possibly damaging Het
Acox1 A T 11: 116,198,347 H48Q probably benign Het
Adam9 A G 8: 24,996,779 I161T possibly damaging Het
Ankrd50 A G 3: 38,457,055 Y388H probably damaging Het
Arap1 A T 7: 101,391,883 K593* probably null Het
Bicc1 G A 10: 70,945,264 T661M probably damaging Het
Cela1 A G 15: 100,682,885 probably null Het
Celf1 T A 2: 91,001,081 L85H probably damaging Het
Cep120 A T 18: 53,719,246 M520K probably benign Het
Chd1l C T 3: 97,594,040 R230H probably benign Het
Cyp2c55 A T 19: 39,007,127 K28* probably null Het
D930048N14Rik A T 11: 51,654,782 H167L unknown Het
Ddx58 T A 4: 40,208,827 M762L probably damaging Het
Dnah11 C T 12: 118,027,516 E2372K probably damaging Het
Dock4 T A 12: 40,704,338 I442N probably damaging Het
Dpp6 T C 5: 27,451,288 probably null Het
Dysf T C 6: 84,203,326 C1960R probably damaging Het
Gm13941 T C 2: 111,105,979 S2G unknown Het
Gm37240 T C 3: 84,509,941 N157S possibly damaging Het
Gp1ba A G 11: 70,640,457 I350V unknown Het
Gtf3c4 A G 2: 28,834,649 V357A probably benign Het
Hemgn T C 4: 46,396,106 I377V probably benign Het
Hsd3b3 T C 3: 98,753,373 D28G probably benign Het
Intu A T 3: 40,690,703 D508V probably damaging Het
Kif28 A T 1: 179,705,768 M604K probably damaging Het
Klra6 T A 6: 130,016,724 I195F possibly damaging Het
Lhfp G A 3: 53,043,466 V54I probably benign Het
Lrpap1 T C 5: 35,105,579 Y38C probably damaging Het
Maats1 A G 16: 38,335,598 Y88H possibly damaging Het
Map1b T A 13: 99,425,843 Q2453L unknown Het
Map1b C A 13: 99,432,308 E1302* probably null Het
Map7 C T 10: 20,246,664 R159C probably benign Het
Mov10l1 C T 15: 89,012,158 T735I probably benign Het
Nfasc C A 1: 132,634,806 R77L probably damaging Het
Nipsnap1 T C 11: 4,889,969 V230A probably benign Het
Olfr1206 C T 2: 88,865,451 P282L possibly damaging Het
Olfr857 T A 9: 19,713,658 M277K probably benign Het
Olfr860 T A 9: 19,846,208 N137I possibly damaging Het
Orm3 T C 4: 63,356,572 L39P probably damaging Het
Pcdhb19 T A 18: 37,498,799 V549E probably damaging Het
Pclo T A 5: 14,681,685 S274R Het
Phactr1 A G 13: 42,682,702 D2G possibly damaging Het
Phtf2 G A 5: 20,803,192 R164* probably null Het
Prkcq A G 2: 11,226,905 D13G probably damaging Het
Proser1 A T 3: 53,472,073 N156I probably benign Het
Prss51 T C 14: 64,097,509 I171T probably damaging Het
Ptbp2 G A 3: 119,752,991 P81S probably damaging Het
Ptk2b T C 14: 66,166,773 D681G possibly damaging Het
Sorcs2 G T 5: 36,077,968 T240K possibly damaging Het
Sowahc C A 10: 59,222,075 A11E probably benign Het
Spag1 A T 15: 36,216,253 Y526F probably damaging Het
Stim1 A G 7: 102,435,419 H526R probably benign Het
Stx1b T C 7: 127,814,987 K69R probably benign Het
Tal1 T C 4: 115,063,449 S107P probably benign Het
Tas2r130 T C 6: 131,630,012 I273M probably damaging Het
Ttc24 A T 3: 88,072,988 Y135* probably null Het
Ttn G A 2: 76,753,512 P22384S probably damaging Het
Vmn2r14 T G 5: 109,216,221 T610P probably damaging Het
Vmn2r84 T A 10: 130,385,800 *850C probably null Het
Vwf T A 6: 125,565,843 I94N Het
Zan A T 5: 137,424,071 S2762T unknown Het
Zbtb20 A G 16: 43,610,401 Q352R probably benign Het
Zfc3h1 T C 10: 115,423,469 Y1649H probably benign Het
Zfp397 A T 18: 23,956,771 Q111L probably damaging Het
Zfp616 T A 11: 74,084,999 I698N 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
R6136:Slc7a12 UTSW 3 14499126 missense probably benign 0.01
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 splice site 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
R8429:Slc7a12 UTSW 3 14497282 missense probably benign 0.02
R9259:Slc7a12 UTSW 3 14481316 missense probably damaging 1.00
R9344:Slc7a12 UTSW 3 14505431 missense probably damaging 1.00
R9431:Slc7a12 UTSW 3 14480975 missense probably damaging 1.00
R9563:Slc7a12 UTSW 3 14499300 missense possibly damaging 0.91
R9687:Slc7a12 UTSW 3 14480900 missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- TTGGTGTCACATGGATGAACAG -3'
(R):5'- TTGTTCCACGGGATCTGCAG -3'

Sequencing Primer
(F):5'- GTCACATGGATGAACAGAGTCTTTCC -3'
(R):5'- ACGGGATCTGCAGGGTTTGTAAC -3'
Posted On 2022-02-07