Incidental Mutation 'IGL02208:Slc25a26'
ID 284593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a26
Ensembl Gene ENSMUSG00000045100
Gene Name solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
Synonyms D6Bwg0781e, 4933433F13Rik, 4930433D19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02208
Quality Score
Status
Chromosome 6
Chromosomal Location 94477312-94581653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94484520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 20 (V20E)
Ref Sequence ENSEMBL: ENSMUSP00000145328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061118] [ENSMUST00000204235] [ENSMUST00000204764]
AlphaFold Q5U680
Predicted Effect possibly damaging
Transcript: ENSMUST00000061118
AA Change: V20E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100
AA Change: V20E

DomainStartEndE-ValueType
Pfam:Mito_carr 2 82 7e-14 PFAM
Pfam:Mito_carr 84 173 4e-16 PFAM
Pfam:Mito_carr 176 269 2.8e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204235
AA Change: V20E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100
AA Change: V20E

DomainStartEndE-ValueType
Pfam:Mito_carr 2 43 2.7e-7 PFAM
Pfam:Mito_carr 38 82 8.2e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204764
AA Change: V20E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100
AA Change: V20E

DomainStartEndE-ValueType
Pfam:Mito_carr 2 44 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205254
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial carriers, including SLC25A26, are a family of transport proteins found mostly in the inner membranes of mitochondria. They shuttle metabolites and cofactors through the mitochondrial membrane (Agrimi et al., 2004 [PubMed 14674884]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Embryos homozygous for a transposon insertion appear growth retarded and underdeveloped and die after E8.5 but prior to birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,950,772 (GRCm39) Y898H probably damaging Het
Abr T C 11: 76,346,471 (GRCm39) T484A probably damaging Het
Ahsg G A 16: 22,711,060 (GRCm39) V66I possibly damaging Het
Arhgef5 T G 6: 43,252,064 (GRCm39) D938E probably benign Het
Asap1 T A 15: 63,993,882 (GRCm39) E731V probably damaging Het
Cdca2 C T 14: 67,950,589 (GRCm39) R114Q probably damaging Het
Dock5 A G 14: 68,065,899 (GRCm39) I368T probably benign Het
Dse T A 10: 34,028,433 (GRCm39) M886L probably benign Het
Efcab11 A G 12: 99,820,861 (GRCm39) probably benign Het
Eri2 G A 7: 119,385,158 (GRCm39) P448S probably benign Het
Iffo1 A G 6: 125,122,329 (GRCm39) D37G possibly damaging Het
Lrrc39 A T 3: 116,371,923 (GRCm39) Q230L probably damaging Het
Macrod2 C A 2: 142,216,196 (GRCm39) S443Y possibly damaging Het
Map4 T A 9: 109,807,938 (GRCm39) M1K probably null Het
Misfa T C 7: 46,633,572 (GRCm39) probably benign Het
Myh4 G A 11: 67,142,760 (GRCm39) A974T possibly damaging Het
Npm3 T C 19: 45,737,299 (GRCm39) T72A probably benign Het
Or14j1 T C 17: 38,146,415 (GRCm39) F175S probably damaging Het
P3h4 T C 11: 100,304,901 (GRCm39) N162S probably damaging Het
Pcnx2 G T 8: 126,478,894 (GRCm39) T2118N probably benign Het
Pla2r1 G T 2: 60,258,932 (GRCm39) P1152Q possibly damaging Het
Pole2 C T 12: 69,269,936 (GRCm39) E63K possibly damaging Het
Polr3e T A 7: 120,531,363 (GRCm39) F151I probably damaging Het
Prdm2 T C 4: 142,862,313 (GRCm39) T326A probably benign Het
Prdm8 G T 5: 98,331,324 (GRCm39) A59S possibly damaging Het
Reps1 A G 10: 17,994,770 (GRCm39) N538S probably damaging Het
Scube1 T C 15: 83,587,741 (GRCm39) D76G probably damaging Het
Senp6 T C 9: 80,021,225 (GRCm39) F302L probably damaging Het
Skic2 A T 17: 35,060,651 (GRCm39) I822N probably damaging Het
Slc17a7 T C 7: 44,820,367 (GRCm39) I299T probably damaging Het
Spem2 T C 11: 69,708,089 (GRCm39) probably null Het
Stat5b A C 11: 100,695,739 (GRCm39) F81C probably damaging Het
Taf6 A T 5: 138,179,169 (GRCm39) V423E probably damaging Het
Tcaf2 T A 6: 42,606,020 (GRCm39) Y551F probably damaging Het
Tgm6 A T 2: 129,977,790 (GRCm39) D43V probably benign Het
Tubb3 G T 8: 124,147,603 (GRCm39) V179L probably damaging Het
Ubr1 G A 2: 120,776,830 (GRCm39) H304Y probably benign Het
Vmn2r56 T G 7: 12,449,408 (GRCm39) M277L probably benign Het
Wdr72 G A 9: 74,064,581 (GRCm39) V538M probably damaging Het
Other mutations in Slc25a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Slc25a26 APN 6 94,511,204 (GRCm39) missense probably damaging 0.99
R0147:Slc25a26 UTSW 6 94,569,507 (GRCm39) splice site probably null
R0244:Slc25a26 UTSW 6 94,487,814 (GRCm39) missense probably damaging 1.00
R0555:Slc25a26 UTSW 6 94,569,391 (GRCm39) critical splice acceptor site probably null
R0900:Slc25a26 UTSW 6 94,484,639 (GRCm39) missense probably damaging 1.00
R1427:Slc25a26 UTSW 6 94,487,828 (GRCm39) missense probably damaging 1.00
R4494:Slc25a26 UTSW 6 94,575,384 (GRCm39) missense probably damaging 1.00
R4625:Slc25a26 UTSW 6 94,484,633 (GRCm39) missense probably damaging 0.97
R6009:Slc25a26 UTSW 6 94,487,807 (GRCm39) missense probably benign 0.00
R9133:Slc25a26 UTSW 6 94,511,143 (GRCm39) missense
X0066:Slc25a26 UTSW 6 94,553,327 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16