Incidental Mutation 'R4830:Slc25a12'
ID 372722
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 042446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R4830 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 71104614-71198125 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71127149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 344 (V344E)
Ref Sequence ENSEMBL: ENSMUSP00000122103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151937] [ENSMUST00000184169]
AlphaFold Q8BH59
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147553
Predicted Effect probably damaging
Transcript: ENSMUST00000151937
AA Change: V344E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: V344E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1irja_ 3 71 5e-5 SMART
Meta Mutation Damage Score 0.9437 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Ccnt1 A T 15: 98,441,332 (GRCm39) N645K probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Kif1a T C 1: 92,948,931 (GRCm39) probably null Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nlrp4e A T 7: 23,036,165 (GRCm39) N673Y probably benign Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Serpinb3a C T 1: 106,976,316 (GRCm39) E122K probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Tnpo3 T C 6: 29,568,937 (GRCm39) T472A probably benign Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R probably damaging 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
R0031:Slc25a12 UTSW 2 71,163,958 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- AAAATCACCAACGTCGGCGG -3'
(R):5'- TTGTCCCTTAAGCAGACCCG -3'

Sequencing Primer
(F):5'- GCTGAGCTGCGCGTACTC -3'
(R):5'- CTTAAGCAGACCCGGTTGCTTG -3'
Posted On 2016-03-01