Incidental Mutation 'R6009:Slc25a26'
ID 479646
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
MMRRC Submission 044186-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6009 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 94477312-94581653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94487807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 89 (V89L)
Ref Sequence ENSEMBL: ENSMUSP00000145328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061118] [ENSMUST00000204235] [ENSMUST00000204764]
AlphaFold Q5U680
Predicted Effect probably benign
Transcript: ENSMUST00000061118
AA Change: V89L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100
AA Change: V89L

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 benign
Transcript: ENSMUST00000204235
AA Change: V89L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100
AA Change: V89L

DomainStartEndE-ValueType
Pfam:Mito_carr 2 43 2.7e-7 PFAM
Pfam:Mito_carr 38 82 8.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204764
SMART Domains Protein: ENSMUSP00000144816
Gene: ENSMUSG00000045100

DomainStartEndE-ValueType
Pfam:Mito_carr 2 44 1e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204985
AA Change: V56L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205254
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,700,454 (GRCm39) probably benign Het
Afap1 T C 5: 36,154,904 (GRCm39) S683P probably damaging Het
Chid1 T A 7: 141,109,493 (GRCm39) D131V probably damaging Het
Clstn2 C T 9: 97,338,579 (GRCm39) R860Q probably benign Het
Crlf1 A C 8: 70,956,129 (GRCm39) K403T probably damaging Het
Ctdspl2 T G 2: 121,819,319 (GRCm39) N201K probably benign Het
Cyb561a3 G A 19: 10,564,172 (GRCm39) V171I possibly damaging Het
Dazap1 T C 10: 80,121,138 (GRCm39) probably benign Het
Dbf4 G T 5: 8,453,718 (GRCm39) Q235K probably damaging Het
Dgka C T 10: 128,559,548 (GRCm39) G471D probably damaging Het
Fam13b A T 18: 34,630,458 (GRCm39) F100Y possibly damaging Het
Flii A T 11: 60,611,583 (GRCm39) L376* probably null Het
Fnip1 G T 11: 54,393,097 (GRCm39) G487V probably damaging Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golgb1 G T 16: 36,735,321 (GRCm39) A1523S probably damaging Het
Gstm4 A G 3: 107,950,659 (GRCm39) V114A possibly damaging Het
Gtf3c1 A G 7: 125,246,602 (GRCm39) F1569S possibly damaging Het
Gtf3c5 A T 2: 28,461,177 (GRCm39) D312E probably benign Het
Gtpbp1 G A 15: 79,596,297 (GRCm39) V149M probably damaging Het
Hoxa7 C T 6: 52,194,367 (GRCm39) V7M probably damaging Het
Il17f C T 1: 20,849,510 (GRCm39) probably null Het
Ints9 T C 14: 65,245,531 (GRCm39) V263A probably benign Het
Kansl1l C T 1: 66,774,759 (GRCm39) C689Y probably benign Het
Kctd7 G A 5: 130,174,039 (GRCm39) G39E probably damaging Het
Krt82 T A 15: 101,453,540 (GRCm39) D282V probably benign Het
Lemd1 G T 1: 132,155,990 (GRCm39) E11* probably null Het
Maml2 A G 9: 13,532,294 (GRCm39) T503A probably benign Het
Mief2 A G 11: 60,622,485 (GRCm39) T352A probably benign Het
Msantd1 C A 5: 35,075,049 (GRCm39) T37K probably benign Het
Mtus2 A G 5: 148,243,462 (GRCm39) E94G probably damaging Het
Naaa A T 5: 92,407,440 (GRCm39) L353Q probably benign Het
Nek5 T C 8: 22,610,838 (GRCm39) E55G probably benign Het
Npat T C 9: 53,474,749 (GRCm39) M847T probably damaging Het
Nus1 G A 10: 52,309,539 (GRCm39) V268I probably benign Het
Or51r1 A G 7: 102,227,801 (GRCm39) N33S possibly damaging Het
Parn C T 16: 13,485,428 (GRCm39) D23N probably damaging Het
Pdgfa T C 5: 138,964,954 (GRCm39) E176G probably damaging Het
Plcl1 T A 1: 55,735,405 (GRCm39) F249I probably damaging Het
Plscr5 C T 9: 92,086,488 (GRCm39) Q153* probably null Het
Polr2b T C 5: 77,468,099 (GRCm39) I133T probably benign Het
Polr3c A G 3: 96,620,930 (GRCm39) S463P probably damaging Het
Pprc1 A T 19: 46,060,171 (GRCm39) I1530L probably damaging Het
Prex1 C T 2: 166,423,904 (GRCm39) S996N probably damaging Het
Rnf169 C A 7: 99,576,330 (GRCm39) R291S possibly damaging Het
Setd5 A G 6: 113,087,480 (GRCm39) K127R probably damaging Het
Slc4a10 A G 2: 61,877,034 (GRCm39) T16A probably benign Het
Smchd1 A T 17: 71,747,951 (GRCm39) H430Q probably damaging Het
Ttll7 A T 3: 146,640,290 (GRCm39) D503V probably damaging Het
Vav2 A T 2: 27,161,912 (GRCm39) probably null Het
Zbtb47 T C 9: 121,591,937 (GRCm39) S86P possibly damaging Het
Zfp345 A T 2: 150,314,437 (GRCm39) C367S probably damaging Het
Zfp964 T A 8: 70,116,106 (GRCm39) H235Q possibly damaging 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
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
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'- TACGGAAAAGGCGTGTGCTTG -3'
(R):5'- AGCTCTGAACTTGAACCACAG -3'

Sequencing Primer
(F):5'- GCGTGTGCTTGCCAATTC -3'
(R):5'- TTGAACCACAGCACCAAAATAAC -3'
Posted On 2017-06-26