Incidental Mutation 'R2291:Slc25a10'
ID 244374
Institutional Source Beutler Lab
Gene Symbol Slc25a10
Ensembl Gene ENSMUSG00000025792
Gene Name solute carrier family 25 (mitochondrial carrier, dicarboxylate transporter), member 10
Synonyms Dic
MMRRC Submission 040290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2291 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 120382666-120390013 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120387900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 198 (I198L)
Ref Sequence ENSEMBL: ENSMUSP00000026899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026899]
AlphaFold Q9QZD8
Predicted Effect probably benign
Transcript: ENSMUST00000026899
AA Change: I198L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026899
Gene: ENSMUSG00000025792
AA Change: I198L

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,207,450 (GRCm39) I247N probably damaging Het
Afdn A G 17: 14,109,153 (GRCm39) K1559E probably damaging Het
Ankhd1 C T 18: 36,777,386 (GRCm39) T1523I probably benign Het
Apc T A 18: 34,445,544 (GRCm39) N795K probably benign Het
Arhgap26 G T 18: 39,490,751 (GRCm39) probably benign Het
Atm C T 9: 53,402,209 (GRCm39) probably null Het
Atp1a4 T C 1: 172,072,473 (GRCm39) N394D probably damaging Het
Brinp3 T A 1: 146,776,812 (GRCm39) S420T possibly damaging Het
Cacna1d G T 14: 29,764,299 (GRCm39) R2078S probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Camk2a T A 18: 61,097,031 (GRCm39) V38E probably damaging Het
Camk4 G A 18: 33,240,996 (GRCm39) probably null Het
Ccr7 G A 11: 99,036,161 (GRCm39) R254C probably damaging Het
Celf5 C T 10: 81,302,881 (GRCm39) G267D probably damaging Het
Cfap65 G A 1: 74,965,634 (GRCm39) P459S probably damaging Het
Chd1l T C 3: 97,498,599 (GRCm39) K267E probably damaging Het
Chl1 T A 6: 103,692,354 (GRCm39) Y331N probably damaging Het
Cltc G A 11: 86,624,448 (GRCm39) T158I probably benign Het
Col16a1 T A 4: 129,960,833 (GRCm39) D430E unknown Het
Cspg4 T C 9: 56,800,027 (GRCm39) V1597A probably damaging Het
Cstf2t T A 19: 31,062,264 (GRCm39) L600H probably benign Het
Cyp27b1 T C 10: 126,884,163 (GRCm39) V5A possibly damaging Het
Depdc5 C A 5: 33,136,746 (GRCm39) Q1339K probably damaging Het
Diaph3 G T 14: 87,203,882 (GRCm39) P592Q probably damaging Het
Dync2i1 A T 12: 116,193,191 (GRCm39) probably null Het
Epha8 T C 4: 136,660,658 (GRCm39) M687V probably damaging Het
Fhod1 T A 8: 106,063,596 (GRCm39) probably benign Het
Gls2 C A 10: 128,043,479 (GRCm39) S73* probably null Het
Gm3604 T A 13: 62,519,657 (GRCm39) M33L probably damaging Het
Gpr39 A G 1: 125,605,278 (GRCm39) T69A probably benign Het
Hal T C 10: 93,339,398 (GRCm39) F496L probably damaging Het
Hipk1 T C 3: 103,668,926 (GRCm39) E490G probably damaging Het
Ints7 T G 1: 191,338,315 (GRCm39) probably null Het
Itpr3 A G 17: 27,332,553 (GRCm39) E1799G possibly damaging Het
Kif11 T A 19: 37,395,451 (GRCm39) M570K probably benign Het
Kif18b G T 11: 102,799,096 (GRCm39) Q702K probably damaging Het
Kif19a A G 11: 114,681,019 (GRCm39) T247A probably damaging Het
Lama3 A G 18: 12,658,136 (GRCm39) E360G probably damaging Het
Loxl3 G T 6: 83,014,469 (GRCm39) A126S probably benign Het
Mc5r C T 18: 68,472,435 (GRCm39) R265W probably damaging Het
Mpl A G 4: 118,306,197 (GRCm39) V340A probably benign Het
Mrpl13 G T 15: 55,411,615 (GRCm39) H56Q probably damaging Het
Msr1 T C 8: 40,077,263 (GRCm39) T116A probably benign Het
N4bp3 T C 11: 51,536,930 (GRCm39) K48E probably damaging Het
Naaladl1 A G 19: 6,156,225 (GRCm39) T104A probably benign Het
Neu1 C T 17: 35,151,742 (GRCm39) R179W probably damaging Het
Or10d5 T C 9: 39,861,630 (GRCm39) T146A probably benign Het
Or8k21 A T 2: 86,145,524 (GRCm39) Y35* probably null Het
Osbp G T 19: 11,951,198 (GRCm39) E248* probably null Het
Otx1 T A 11: 21,946,634 (GRCm39) probably benign Het
Parp4 A T 14: 56,851,274 (GRCm39) Q759L probably damaging Het
Pax6 A C 2: 105,516,228 (GRCm39) S169R probably benign Het
Pigg T G 5: 108,480,783 (GRCm39) I389M probably damaging Het
Pla2g4a C A 1: 149,776,940 (GRCm39) V59F probably damaging Het
Plcb4 A T 2: 135,781,903 (GRCm39) Q241H probably benign Het
Plpp6 A G 19: 28,941,720 (GRCm39) D107G probably damaging Het
Ppp6r2 T A 15: 89,159,690 (GRCm39) L459Q probably damaging Het
Prss55 A T 14: 64,313,171 (GRCm39) W238R probably damaging Het
Rgl1 C T 1: 152,412,032 (GRCm39) E446K probably damaging Het
Ric3 C T 7: 108,638,090 (GRCm39) G221D probably damaging Het
Rnf167 T C 11: 70,540,129 (GRCm39) F83S probably damaging Het
Ryr1 C T 7: 28,798,202 (GRCm39) V947M probably damaging Het
Scn1a A G 2: 66,119,312 (GRCm39) L1397P probably benign Het
Sh3bp1 T A 15: 78,802,519 (GRCm39) V251E possibly damaging Het
Smoc2 A T 17: 14,589,233 (GRCm39) N234I possibly damaging Het
Spdl1 T A 11: 34,710,136 (GRCm39) K382* probably null Het
Ssrp1 G A 2: 84,872,660 (GRCm39) probably null Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Triqk T A 4: 12,974,817 (GRCm39) probably null Het
Ttc19 T C 11: 62,174,519 (GRCm39) Y128H probably damaging Het
Vmn1r15 T C 6: 57,235,677 (GRCm39) S182P possibly damaging Het
Vmn1r226 A G 17: 20,908,475 (GRCm39) I236V probably damaging Het
Vmn2r120 A C 17: 57,816,479 (GRCm39) N625K probably damaging Het
Vmn2r78 T C 7: 86,569,362 (GRCm39) I85T probably damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt7a C T 6: 91,371,468 (GRCm39) V165I probably benign Het
Zbtb40 A T 4: 136,712,328 (GRCm39) Y1127N possibly damaging Het
Zfyve1 A T 12: 83,594,705 (GRCm39) H762Q probably damaging Het
Other mutations in Slc25a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Slc25a10 APN 11 120,387,933 (GRCm39) critical splice donor site probably null
IGL00816:Slc25a10 APN 11 120,385,976 (GRCm39) splice site probably benign
IGL02448:Slc25a10 APN 11 120,387,879 (GRCm39) missense probably benign 0.01
R2860:Slc25a10 UTSW 11 120,386,003 (GRCm39) missense probably damaging 0.98
R2861:Slc25a10 UTSW 11 120,386,003 (GRCm39) missense probably damaging 0.98
R3938:Slc25a10 UTSW 11 120,382,819 (GRCm39) nonsense probably null
R4019:Slc25a10 UTSW 11 120,388,265 (GRCm39) missense probably damaging 0.99
R4020:Slc25a10 UTSW 11 120,388,265 (GRCm39) missense probably damaging 0.99
R4457:Slc25a10 UTSW 11 120,387,915 (GRCm39) missense probably benign
R4542:Slc25a10 UTSW 11 120,388,807 (GRCm39) splice site probably null
R5643:Slc25a10 UTSW 11 120,387,202 (GRCm39) intron probably benign
R5869:Slc25a10 UTSW 11 120,388,943 (GRCm39) missense probably damaging 0.98
R6032:Slc25a10 UTSW 11 120,385,784 (GRCm39) critical splice acceptor site probably null
R6032:Slc25a10 UTSW 11 120,385,784 (GRCm39) critical splice acceptor site probably null
R6455:Slc25a10 UTSW 11 120,386,031 (GRCm39) missense probably damaging 1.00
R6574:Slc25a10 UTSW 11 120,387,903 (GRCm39) missense probably benign
R6954:Slc25a10 UTSW 11 120,388,973 (GRCm39) missense probably benign
R7302:Slc25a10 UTSW 11 120,382,782 (GRCm39) unclassified probably benign
R7618:Slc25a10 UTSW 11 120,387,797 (GRCm39) splice site probably null
R7671:Slc25a10 UTSW 11 120,386,286 (GRCm39) missense probably benign 0.18
R7883:Slc25a10 UTSW 11 120,385,340 (GRCm39) missense possibly damaging 0.84
R8855:Slc25a10 UTSW 11 120,385,795 (GRCm39) missense probably damaging 1.00
R9683:Slc25a10 UTSW 11 120,386,312 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCCATGTGTGGTGACGC -3'
(R):5'- CCTGAGAATTCTTGCAGCCC -3'

Sequencing Primer
(F):5'- ACGCAGGTCACAGCAGG -3'
(R):5'- AGAATTCTTGCAGCCCTGGGTC -3'
Posted On 2014-10-30