Incidental Mutation 'IGL00572:Slc25a10'
ID14066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a10
Ensembl Gene ENSMUSG00000025792
Gene Namesolute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10
SynonymsDic
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00572
Quality Score
Status
Chromosome11
Chromosomal Location120491840-120499187 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 120497107 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026899]
Predicted Effect probably null
Transcript: ENSMUST00000026899
SMART Domains Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792

DomainStartEndE-ValueType
Pfam:Mito_carr 5 92 4.1e-20 PFAM
Pfam:Mito_carr 94 191 2e-18 PFAM
Pfam:Mito_carr 195 284 7.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152187
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 member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A G 17: 55,820,648 I563V probably benign Het
Adgrl2 A G 3: 148,826,498 L1033P probably damaging Het
Aqr A C 2: 114,125,942 I840M possibly damaging Het
Bmper G A 9: 23,406,527 V481M probably damaging Het
Chd8 T C 14: 52,226,138 E683G probably damaging Het
Cpn1 A G 19: 43,963,829 V338A probably damaging Het
Cs A G 10: 128,360,964 probably benign Het
Gm4540 C T 3: 106,034,807 probably benign Het
Gm884 A G 11: 103,615,410 F1911L probably benign Het
Hdc A G 2: 126,601,872 F296L probably benign Het
Helt T C 8: 46,293,522 E32G probably damaging Het
Hivep1 C T 13: 42,158,871 A1529V probably benign Het
Klk1b4 A T 7: 44,210,774 H104L possibly damaging Het
Ncf2 C A 1: 152,808,174 T48N possibly damaging Het
Phkg1 G A 5: 129,865,073 Q274* probably null Het
Slc1a2 A G 2: 102,777,576 D520G possibly damaging Het
Slc8a1 A T 17: 81,388,726 S960T probably damaging Het
Sp140 G A 1: 85,621,672 R208K probably benign Het
St7 A G 6: 17,855,006 E245G probably damaging Het
Sypl T A 12: 32,954,294 S2T probably damaging Het
Tbx20 T C 9: 24,725,688 T368A probably benign Het
Tmem126a T C 7: 90,450,832 T168A probably benign Het
Ttn T C 2: 76,746,590 D24653G probably damaging Het
Ttn A G 2: 76,946,979 S1360P probably damaging Het
Uggt2 A T 14: 119,042,791 F282L probably benign Het
Usp36 A T 11: 118,264,820 N875K possibly damaging Het
Usp9x C A X: 13,125,576 H869N probably benign Het
Xpnpep1 T C 19: 53,010,148 E223G probably benign Het
Zfp729a G A 13: 67,619,321 P930S probably benign Het
Zscan10 G A 17: 23,609,461 V216M probably damaging Het
Other mutations in Slc25a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Slc25a10 APN 11 120495150 splice site probably benign
IGL02448:Slc25a10 APN 11 120497053 missense probably benign 0.01
R2291:Slc25a10 UTSW 11 120497074 missense probably benign
R2860:Slc25a10 UTSW 11 120495177 missense probably damaging 0.98
R2861:Slc25a10 UTSW 11 120495177 missense probably damaging 0.98
R3938:Slc25a10 UTSW 11 120491993 nonsense probably null
R4019:Slc25a10 UTSW 11 120497439 missense probably damaging 0.99
R4020:Slc25a10 UTSW 11 120497439 missense probably damaging 0.99
R4457:Slc25a10 UTSW 11 120497089 missense probably benign
R4542:Slc25a10 UTSW 11 120497981 splice site probably null
R5643:Slc25a10 UTSW 11 120496376 intron probably benign
R5869:Slc25a10 UTSW 11 120498117 missense probably damaging 0.98
R6032:Slc25a10 UTSW 11 120494958 critical splice acceptor site probably null
R6032:Slc25a10 UTSW 11 120494958 critical splice acceptor site probably null
R6455:Slc25a10 UTSW 11 120495205 missense probably damaging 1.00
R6574:Slc25a10 UTSW 11 120497077 missense probably benign
R6954:Slc25a10 UTSW 11 120498147 missense probably benign
R7302:Slc25a10 UTSW 11 120491956 unclassified probably benign
R7618:Slc25a10 UTSW 11 120496971 intron probably null
R7671:Slc25a10 UTSW 11 120495460 missense probably benign 0.18
R7883:Slc25a10 UTSW 11 120494514 missense possibly damaging 0.84
R7966:Slc25a10 UTSW 11 120494514 missense possibly damaging 0.84
Posted On2012-12-06