Incidental Mutation 'R0031:Slc25a12'
ID 18651
Institutional Source Beutler Lab
Gene Symbol Slc25a12
Ensembl Gene ENSMUSG00000027010
Gene Name solute carrier family 25 (mitochondrial carrier, Aralar), member 12
Synonyms B230107K20Rik
MMRRC Submission 038325-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R0031 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 71104614-71198125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71163958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 106 (V106M)
Ref Sequence ENSEMBL: ENSMUSP00000122103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151937] [ENSMUST00000184169]
AlphaFold Q8BH59
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137916
Predicted Effect possibly damaging
Transcript: ENSMUST00000151937
AA Change: V106M

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: V106M

EFh 56 84 1.83e1 SMART
EFh 90 118 5.8e-1 SMART
EFh 161 189 2.49e0 SMART
Pfam:Mito_carr 324 421 3e-27 PFAM
Pfam:Mito_carr 422 513 2.9e-18 PFAM
Pfam:Mito_carr 515 609 2.1e-27 PFAM
low complexity region 662 677 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184169
SMART Domains Protein: ENSMUSP00000139371
Gene: ENSMUSG00000027010

SCOP:d1irja_ 3 71 5e-5 SMART
Meta Mutation Damage Score 0.2036 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 G A 2: 69,115,652 (GRCm39) R571C probably damaging Het
Agr3 T C 12: 35,997,590 (GRCm39) M100T probably benign Het
Ankrd7 T A 6: 18,870,007 (GRCm39) Y253* probably null Het
Atp2c2 A T 8: 120,475,801 (GRCm39) T565S probably benign Het
Ccdc88b G T 19: 6,831,151 (GRCm39) S597Y possibly damaging Het
Celsr2 T C 3: 108,320,379 (GRCm39) N811S probably damaging Het
Cep170 A T 1: 176,583,657 (GRCm39) D907E probably damaging Het
Cip2a C T 16: 48,837,736 (GRCm39) S812F probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cmss1 T G 16: 57,131,612 (GRCm39) probably null Het
Cobl T C 11: 12,204,945 (GRCm39) T579A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csrp2 C T 10: 110,774,601 (GRCm39) S172L probably benign Het
Fip1l1 T C 5: 74,717,770 (GRCm39) S235P probably damaging Het
Gbgt1 T A 2: 28,388,462 (GRCm39) probably benign Het
Gml2 T C 15: 74,696,125 (GRCm39) I173T probably benign Het
Gucy2c T A 6: 136,674,997 (GRCm39) I1005F probably damaging Het
Irak3 T A 10: 120,012,225 (GRCm39) K88* probably null Het
Klc1 T C 12: 111,743,467 (GRCm39) Y265H probably damaging Het
Lamb1 G A 12: 31,351,155 (GRCm39) V754I probably benign Het
Lrguk A T 6: 34,020,431 (GRCm39) Q58H probably damaging Het
Lyst A G 13: 13,882,741 (GRCm39) D2902G probably benign Het
Mtpap T A 18: 4,383,244 (GRCm39) I207N probably damaging Het
Ncdn A T 4: 126,643,901 (GRCm39) probably null Het
Nup160 A G 2: 90,547,931 (GRCm39) probably null Het
Ormdl1 A G 1: 53,338,318 (GRCm39) probably benign Het
Pde5a A G 3: 122,596,704 (GRCm39) M432V probably benign Het
Pikfyve T A 1: 65,255,088 (GRCm39) probably benign Het
Plcb2 A G 2: 118,545,942 (GRCm39) V581A probably benign Het
Plpp6 T A 19: 28,942,243 (GRCm39) N281K probably benign Het
Pwp1 T C 10: 85,721,760 (GRCm39) I422T probably benign Het
Rims1 T C 1: 22,367,103 (GRCm39) N1199S probably damaging Het
Sema3c T C 5: 17,899,726 (GRCm39) L406P probably damaging Het
Senp6 C T 9: 80,033,525 (GRCm39) P84L probably damaging Het
Setx A G 2: 29,066,941 (GRCm39) I2361V probably benign Het
Slc3a1 A G 17: 85,340,274 (GRCm39) Y232C probably damaging Het
Spata31g1 A T 4: 42,973,712 (GRCm39) K1015M probably damaging Het
Taf1c A T 8: 120,325,829 (GRCm39) C678S probably benign Het
Tcp11l2 G T 10: 84,427,004 (GRCm39) C156F probably damaging Het
Tmem62 A G 2: 120,829,594 (GRCm39) T316A probably benign Het
Ulk4 A G 9: 121,102,048 (GRCm39) I10T probably damaging Het
Vps54 T C 11: 21,262,899 (GRCm39) I824T probably damaging Het
Wdfy3 A T 5: 102,037,161 (GRCm39) V2042E probably damaging Het
Wfdc6b A T 2: 164,455,779 (GRCm39) E36V probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Other mutations in Slc25a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Slc25a12 APN 2 71,174,376 (GRCm39) missense possibly damaging 0.63
IGL01116:Slc25a12 APN 2 71,123,696 (GRCm39) splice site probably benign
IGL01375:Slc25a12 APN 2 71,138,394 (GRCm39) splice site probably benign
IGL02631:Slc25a12 APN 2 71,127,086 (GRCm39) missense possibly damaging 0.90
IGL02899:Slc25a12 APN 2 71,109,979 (GRCm39) missense probably damaging 1.00
R0689:Slc25a12 UTSW 2 71,141,837 (GRCm39) missense possibly damaging 0.95
R1148:Slc25a12 UTSW 2 71,142,912 (GRCm39) splice site probably benign
R1148:Slc25a12 UTSW 2 71,142,912 (GRCm39) splice site probably benign
R1832:Slc25a12 UTSW 2 71,164,054 (GRCm39) missense possibly damaging 0.85
R2044:Slc25a12 UTSW 2 71,142,892 (GRCm39) missense probably benign 0.00
R4537:Slc25a12 UTSW 2 71,105,450 (GRCm39) utr 3 prime probably benign
R4668:Slc25a12 UTSW 2 71,145,406 (GRCm39) missense probably benign 0.22
R4830:Slc25a12 UTSW 2 71,127,149 (GRCm39) missense probably damaging 1.00
R5476:Slc25a12 UTSW 2 71,105,666 (GRCm39) missense probably benign
R5698:Slc25a12 UTSW 2 71,112,917 (GRCm39) missense probably damaging 1.00
R6074:Slc25a12 UTSW 2 71,106,798 (GRCm39) missense probably benign 0.01
R6516:Slc25a12 UTSW 2 71,154,427 (GRCm39) missense probably damaging 0.97
R7270:Slc25a12 UTSW 2 71,154,369 (GRCm39) missense probably benign
R7794:Slc25a12 UTSW 2 71,141,852 (GRCm39) missense probably damaging 1.00
R8022:Slc25a12 UTSW 2 71,105,533 (GRCm39) missense unknown
R9295:Slc25a12 UTSW 2 71,128,986 (GRCm39) missense possibly damaging 0.92
R9715:Slc25a12 UTSW 2 71,109,899 (GRCm39) missense probably benign 0.43
Z1176:Slc25a12 UTSW 2 71,127,090 (GRCm39) missense probably damaging 0.99
Posted On 2013-03-25