Incidental Mutation 'IGL01375:Slc25a12'
ID78705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a12
Ensembl Gene ENSMUSG00000027010
Gene Namesolute carrier family 25 (mitochondrial carrier, Aralar), member 12
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL01375
Quality Score
Status
Chromosome2
Chromosomal Location71271063-71367749 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 71308050 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151937] [ENSMUST00000184169]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137916
Predicted Effect probably benign
Transcript: ENSMUST00000151937
SMART Domains Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010

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
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik A G 13: 98,984,142 probably benign Het
Anxa2 C T 9: 69,483,019 R68* probably null Het
Apc C T 18: 34,313,654 S1167L probably damaging Het
Aqp2 A G 15: 99,582,102 T149A possibly damaging Het
Asb8 T C 15: 98,141,309 E70G probably damaging Het
Carmil1 T C 13: 24,094,471 I172V possibly damaging Het
Cd38 A G 5: 43,903,597 M172V probably benign Het
Dyrk2 A G 10: 118,860,687 V222A probably damaging Het
Ephb6 T A 6: 41,615,911 probably benign Het
Fam208a A G 14: 27,440,163 R159G probably damaging Het
Fbxo15 T C 18: 84,958,279 S48P possibly damaging Het
Gsdma3 T C 11: 98,629,941 probably null Het
Htr1d A G 4: 136,443,173 T238A probably benign Het
Kcnh3 G A 15: 99,226,993 W108* probably null Het
Kdsr A T 1: 106,727,694 Y272N probably benign Het
Lrp2 A G 2: 69,478,566 probably benign Het
Nup210l G A 3: 90,159,893 V747M probably damaging Het
Olfr1200 A G 2: 88,767,466 V283A probably benign Het
Olfr1512 A G 14: 52,372,408 I215T probably damaging Het
Pfn3 T A 13: 55,414,828 R113S possibly damaging Het
Pik3r4 T C 9: 105,644,604 I123T possibly damaging Het
Plec A T 15: 76,176,440 I3121N probably damaging Het
Prepl C T 17: 85,071,991 G336D possibly damaging Het
Prpf8 C A 11: 75,494,295 A794D possibly damaging Het
Prps1l1 A G 12: 34,985,632 T249A possibly damaging Het
Rptor T A 11: 119,896,436 F1276I possibly damaging Het
Serpina3f G A 12: 104,220,476 V434I unknown Het
Slc4a4 T C 5: 89,179,734 C642R probably damaging Het
Slit2 C T 5: 48,281,714 probably benign Het
Tgfbr3 A G 5: 107,136,971 V604A probably benign Het
Tnfrsf1b T C 4: 145,225,416 Y126C probably damaging Het
Traf4 T C 11: 78,160,082 N416S probably benign Het
Trappc10 A G 10: 78,188,899 I1132T possibly damaging Het
Vps8 T A 16: 21,559,372 Y642* probably null Het
Wdr60 G T 12: 116,229,676 A552E possibly damaging Het
Other mutations in Slc25a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Slc25a12 APN 2 71344032 missense possibly damaging 0.63
IGL01116:Slc25a12 APN 2 71293352 splice site probably benign
IGL02631:Slc25a12 APN 2 71296742 missense possibly damaging 0.90
IGL02899:Slc25a12 APN 2 71279635 missense probably damaging 1.00
R0031:Slc25a12 UTSW 2 71333614 missense possibly damaging 0.93
R0689:Slc25a12 UTSW 2 71311493 missense possibly damaging 0.95
R1148:Slc25a12 UTSW 2 71312568 splice site probably benign
R1148:Slc25a12 UTSW 2 71312568 splice site probably benign
R1832:Slc25a12 UTSW 2 71333710 missense possibly damaging 0.85
R2044:Slc25a12 UTSW 2 71312548 missense probably benign 0.00
R4537:Slc25a12 UTSW 2 71275106 utr 3 prime probably benign
R4668:Slc25a12 UTSW 2 71315062 missense probably benign 0.22
R4830:Slc25a12 UTSW 2 71296805 missense probably damaging 1.00
R5476:Slc25a12 UTSW 2 71275322 missense probably benign
R5698:Slc25a12 UTSW 2 71282573 missense probably damaging 1.00
R6074:Slc25a12 UTSW 2 71276454 missense probably benign 0.01
R6516:Slc25a12 UTSW 2 71324083 missense probably damaging 0.97
R7270:Slc25a12 UTSW 2 71324025 missense probably benign
R7794:Slc25a12 UTSW 2 71311508 missense probably damaging 1.00
R8022:Slc25a12 UTSW 2 71275189 missense unknown
Z1176:Slc25a12 UTSW 2 71296746 missense probably damaging 0.99
Posted On2013-11-05