Incidental Mutation 'IGL02946:Slc25a5'
ID 364729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a5
Ensembl Gene ENSMUSG00000016319
Gene Name solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5
Synonyms adenine nucleotide translocase, Ant2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02946
Quality Score
Status
Chromosome X
Chromosomal Location 36059304-36062460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36061506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 239 (M239K)
Ref Sequence ENSEMBL: ENSMUSP00000016463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016463]
AlphaFold P51881
Predicted Effect probably damaging
Transcript: ENSMUST00000016463
AA Change: M239K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000016463
Gene: ENSMUSG00000016319
AA Change: M239K

DomainStartEndE-ValueType
Pfam:Mito_carr 4 103 4.2e-27 PFAM
Pfam:Mito_carr 109 206 1.4e-26 PFAM
Pfam:Mito_carr 205 298 2.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156672
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a transmembrane domain-containing protein that localizes to the mitochondrial inner membrane. The encoded protein facilitates the exchange of ADP from the cytoplasm with ATP from the mitochondria. Pseudogenes for this gene are found on multiple chromosomes. [provided by RefSeq, May 2015]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Stk32b T C 5: 37,688,883 (GRCm39) probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Slc25a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0601:Slc25a5 UTSW X 36,059,408 (GRCm39) missense probably benign 0.03
Z1176:Slc25a5 UTSW X 36,062,130 (GRCm39) missense probably benign 0.36
Posted On 2015-12-18