Incidental Mutation 'IGL00694:Slc25a26'
ID14069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a26
Ensembl Gene ENSMUSG00000045100
Gene Namesolute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
Synonyms4930433D19Rik, 4933433F13Rik, D6Bwg0781e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00694
Quality Score
Status
Chromosome6
Chromosomal Location94500331-94604672 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94534223 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 127 (I127N)
Ref Sequence ENSEMBL: ENSMUSP00000058028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061118] [ENSMUST00000204235] [ENSMUST00000204764]
Predicted Effect probably damaging
Transcript: ENSMUST00000061118
AA Change: I127N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058028
Gene: ENSMUSG00000045100
AA Change: I127N

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
SMART Domains Protein: ENSMUSP00000145328
Gene: ENSMUSG00000045100

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: I94N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205173
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,230,168 Q192L probably damaging Het
Adgrl4 T C 3: 151,439,396 probably benign Het
Aqr A T 2: 114,151,525 D259E probably damaging Het
Arl14ep A T 2: 106,967,192 F153L probably damaging Het
Asb15 G T 6: 24,570,664 R547L possibly damaging Het
Chd8 A C 14: 52,217,970 V1020G probably damaging Het
Coq2 C T 5: 100,655,314 S370N probably benign Het
Crebl2 T A 6: 134,849,195 S36R probably damaging Het
Cyp2c29 A T 19: 39,321,635 T263S possibly damaging Het
Edem1 T C 6: 108,841,601 I190T possibly damaging Het
Fbn2 T G 18: 58,037,809 E2170A possibly damaging Het
Gak T G 5: 108,613,634 *129C probably null Het
Gm13101 G T 4: 143,965,822 P203Q possibly damaging Het
Hc T C 2: 34,991,629 I1436V probably benign Het
Kmt2c A T 5: 25,293,161 F534I probably damaging Het
Mfhas1 G A 8: 35,590,771 R800Q probably benign Het
Npat A G 9: 53,563,517 T870A probably benign Het
Pde8a T C 7: 81,306,708 V285A possibly damaging Het
Spag1 A T 15: 36,227,171 E658V possibly damaging Het
St3gal2 A T 8: 110,969,581 H266L probably damaging Het
Sult6b2 A G 6: 142,790,289 I193T possibly damaging Het
Tas2r120 T C 6: 132,657,275 F107L probably benign Het
Thoc1 A G 18: 9,989,744 D475G possibly damaging Het
Tpo T A 12: 30,105,994 R169S probably damaging Het
Zhx2 A G 15: 57,821,760 N175S probably benign Het
Other mutations in Slc25a26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Slc25a26 APN 6 94507539 missense probably damaging 0.99
R0147:Slc25a26 UTSW 6 94592526 intron probably null
R0244:Slc25a26 UTSW 6 94510833 missense probably damaging 1.00
R0555:Slc25a26 UTSW 6 94592410 critical splice acceptor site probably null
R0900:Slc25a26 UTSW 6 94507658 missense probably damaging 1.00
R1427:Slc25a26 UTSW 6 94510847 missense probably damaging 1.00
R4494:Slc25a26 UTSW 6 94598403 missense probably damaging 1.00
R4625:Slc25a26 UTSW 6 94507652 missense probably damaging 0.97
R6009:Slc25a26 UTSW 6 94510826 missense probably benign 0.00
X0066:Slc25a26 UTSW 6 94576346 missense possibly damaging 0.88
Posted On2012-12-06