Incidental Mutation 'R0900:Slc25a26'
ID 83831
Institutional Source Beutler Lab
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 # R0900 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 94477312-94581653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94484639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 60 (S60T)
Ref Sequence ENSEMBL: ENSMUSP00000058028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061118] [ENSMUST00000204235] [ENSMUST00000204764]
AlphaFold Q5U680
Predicted Effect probably damaging
Transcript: ENSMUST00000061118
AA Change: S60T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100
AA Change: S60T

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: S60T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100
AA Change: S60T

DomainStartEndE-ValueType
Pfam:Mito_carr 2 43 2.7e-7 PFAM
Pfam:Mito_carr 38 82 8.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204764
AA Change: S60T

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100
AA Change: S60T

DomainStartEndE-ValueType
Pfam:Mito_carr 2 44 1e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204985
AA Change: S27T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205254
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,904,359 (GRCm39) F144I probably damaging Het
Als2cl A G 9: 110,719,496 (GRCm39) R468G possibly damaging Het
Arsk C A 13: 76,246,576 (GRCm39) probably benign Het
Cacna1d T C 14: 29,833,039 (GRCm39) H912R probably damaging Het
Ccr1 A T 9: 123,764,371 (GRCm39) V53D possibly damaging Het
Cfap91 G A 16: 38,156,764 (GRCm39) S47L possibly damaging Het
Clec2d G A 6: 129,160,076 (GRCm39) R30K probably benign Het
Col12a1 A G 9: 79,591,535 (GRCm39) V975A possibly damaging Het
Col4a1 AGCCAGGGATGCCAGG AGCCAGG 8: 11,268,014 (GRCm39) probably benign Het
Cul7 T C 17: 46,969,263 (GRCm39) S907P probably benign Het
Depdc1b A T 13: 108,498,794 (GRCm39) H159L possibly damaging Het
Dhx57 T C 17: 80,583,011 (GRCm39) H198R probably benign Het
Dpp7 T C 2: 25,246,311 (GRCm39) D10G probably damaging Het
Esp18 G A 17: 39,719,023 (GRCm39) M7I possibly damaging Het
Fam120a G T 13: 49,039,219 (GRCm39) A979E possibly damaging Het
Fam167a A G 14: 63,689,828 (GRCm39) T42A probably damaging Het
Gm973 A G 1: 59,605,827 (GRCm39) R553G probably benign Het
Ift140 T A 17: 25,254,786 (GRCm39) I422N probably benign Het
Jag1 CTTT CTTTT 2: 136,932,802 (GRCm39) probably null Het
Limk2 A G 11: 3,300,731 (GRCm39) F204L probably damaging Het
Lmo7 A G 14: 102,124,624 (GRCm39) D361G probably damaging Het
Muc2 CGTG CGTGTG 7: 141,699,185 (GRCm38) probably null Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Or52e2 T A 7: 102,804,520 (GRCm39) M145L probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcdh18 A T 3: 49,711,252 (GRCm39) F21Y probably benign Het
Pcna-ps2 T A 19: 9,261,487 (GRCm39) Y249N probably damaging Het
Prkce A T 17: 86,932,886 (GRCm39) D622V probably damaging Het
Prss47 A C 13: 65,197,208 (GRCm39) V176G possibly damaging Het
Prss55 C T 14: 64,314,627 (GRCm39) R181H probably benign Het
Prtg A T 9: 72,752,225 (GRCm39) I204L probably benign Het
Pura T C 18: 36,420,720 (GRCm39) I169T probably damaging Het
Rttn C T 18: 89,119,815 (GRCm39) T1750I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem94 T A 11: 115,682,804 (GRCm39) C614S probably benign Het
Trim12a T C 7: 103,953,469 (GRCm39) N214S probably benign Het
Ube3c T C 5: 29,806,344 (GRCm39) Y329H probably benign Het
Ubxn2a T C 12: 4,952,257 (GRCm39) K2E probably damaging Het
Unc80 A T 1: 66,710,757 (GRCm39) E2675D probably benign Het
Usf3 C T 16: 44,036,321 (GRCm39) P267L probably benign Het
Vmn1r129 A T 7: 21,094,635 (GRCm39) Y194* probably null Het
Zfp750 T C 11: 121,403,807 (GRCm39) E356G probably benign Het
Other mutations in Slc25a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Slc25a26 APN 6 94,511,204 (GRCm39) missense probably damaging 0.99
IGL02208:Slc25a26 APN 6 94,484,520 (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
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
Predicted Primers PCR Primer
(F):5'- TGAGTCATGCTTTTAGGGTCACATGTC -3'
(R):5'- CCACTGCACTAAGGAACCATGCTG -3'

Sequencing Primer
(F):5'- AATGGTAGCTTTCTTAGTGGAACC -3'
(R):5'- TCCTGGAATGGATTCTACAGCAC -3'
Posted On 2013-11-08