Incidental Mutation 'IGL02967:Slc25a4'
ID 365669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a4
Ensembl Gene ENSMUSG00000031633
Gene Name solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
Synonyms adenine nucleotide translocase-1, Ant1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02967
Quality Score
Status
Chromosome 8
Chromosomal Location 46660205-46664099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46662187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 157 (L157P)
Ref Sequence ENSEMBL: ENSMUSP00000034049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034049]
AlphaFold P48962
Predicted Effect probably damaging
Transcript: ENSMUST00000034049
AA Change: L157P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034049
Gene: ENSMUSG00000031633
AA Change: L157P

DomainStartEndE-ValueType
Pfam:Mito_carr 4 103 6.6e-28 PFAM
Pfam:Mito_carr 109 206 1.2e-26 PFAM
Pfam:Mito_carr 204 298 8.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155986
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,328,291 (GRCm39) T3455A probably damaging Het
Abca8a G A 11: 109,941,762 (GRCm39) P1169L probably damaging Het
Ablim3 T A 18: 61,959,574 (GRCm39) K272* probably null Het
Abtb3 A G 10: 85,469,646 (GRCm39) T856A probably benign Het
Acin1 A G 14: 54,880,210 (GRCm39) V574A possibly damaging Het
Acot4 A T 12: 84,090,235 (GRCm39) I311L probably benign Het
Akap9 C T 5: 4,026,164 (GRCm39) A1273V probably benign Het
Ap1g2 T A 14: 55,342,479 (GRCm39) probably benign Het
Apob A T 12: 8,065,366 (GRCm39) K4112* probably null Het
Aspdh A G 7: 44,114,963 (GRCm39) probably null Het
Atf7ip T C 6: 136,583,725 (GRCm39) I1252T probably damaging Het
Avpr1a A G 10: 122,285,367 (GRCm39) T220A possibly damaging Het
Bdp1 A G 13: 100,178,778 (GRCm39) F1856S possibly damaging Het
Cit A T 5: 116,083,896 (GRCm39) N743I probably benign Het
Clvs2 T C 10: 33,471,784 (GRCm39) K174E probably damaging Het
Cyp4f40 A T 17: 32,893,222 (GRCm39) Q351L probably damaging Het
Dmbt1 G T 7: 130,672,919 (GRCm39) V550L possibly damaging Het
Edem1 T G 6: 108,813,738 (GRCm39) S178A probably damaging Het
Fam222b C T 11: 78,044,934 (GRCm39) A165V probably benign Het
Fer T C 17: 64,203,262 (GRCm39) V64A possibly damaging Het
Fggy T G 4: 95,814,986 (GRCm39) F535C possibly damaging Het
Fkbp15 A T 4: 62,222,627 (GRCm39) S1091T probably damaging Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Fut7 G T 2: 25,315,155 (GRCm39) V91L probably damaging Het
Gemin4 A T 11: 76,103,067 (GRCm39) C565S probably damaging Het
Gzmm C T 10: 79,530,897 (GRCm39) T233I possibly damaging Het
Hps5 A T 7: 46,418,804 (GRCm39) L789Q possibly damaging Het
Krt32 G A 11: 99,974,876 (GRCm39) S357F possibly damaging Het
Lrig2 C T 3: 104,401,512 (GRCm39) probably benign Het
Lrp8 C A 4: 107,718,431 (GRCm39) Q678K probably benign Het
Mmp27 C A 9: 7,571,591 (GRCm39) Q45K probably benign Het
Myh1 A G 11: 67,099,896 (GRCm39) D602G possibly damaging Het
Ncoa1 G T 12: 4,345,294 (GRCm39) H684Q probably damaging Het
Nol9 T C 4: 152,125,559 (GRCm39) V170A possibly damaging Het
Notch2 A G 3: 98,053,460 (GRCm39) D2041G probably damaging Het
Nrg3 G T 14: 38,390,256 (GRCm39) probably benign Het
Nuak1 T A 10: 84,276,085 (GRCm39) H46L probably damaging Het
Pdzd2 G T 15: 12,374,427 (GRCm39) Q1903K probably benign Het
Pik3c2g T C 6: 139,913,554 (GRCm39) V616A probably damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prdm11 A T 2: 92,843,234 (GRCm39) F75Y probably damaging Het
Prelid1 G A 13: 55,472,219 (GRCm39) V132I probably benign Het
Prom1 A G 5: 44,201,740 (GRCm39) S227P probably damaging Het
Psmb5 G A 14: 54,854,083 (GRCm39) R132C probably benign Het
Pus10 A G 11: 23,668,602 (GRCm39) N360D probably damaging Het
Pygm G A 19: 6,443,868 (GRCm39) V610M probably damaging Het
Setd1a A G 7: 127,384,349 (GRCm39) probably benign Het
Sfmbt1 T A 14: 30,538,759 (GRCm39) W793R probably damaging Het
Sost T G 11: 101,855,084 (GRCm39) E75A possibly damaging Het
Tdrd9 A G 12: 111,958,922 (GRCm39) S119G possibly damaging Het
Tepsin A G 11: 119,984,954 (GRCm39) I238T probably benign Het
Tfr2 T A 5: 137,581,081 (GRCm39) L507* probably null Het
Tmem106a T C 11: 101,477,121 (GRCm39) I110T possibly damaging Het
Tmem38a A T 8: 73,339,926 (GRCm39) D298V possibly damaging Het
Tmprss12 A T 15: 100,183,262 (GRCm39) R201S probably benign Het
Ugt2b36 T C 5: 87,238,759 (GRCm39) T271A possibly damaging Het
Virma T G 4: 11,514,096 (GRCm39) V650G probably benign Het
Vmn1r220 A T 13: 23,368,162 (GRCm39) I178N probably damaging Het
Zfp609 A G 9: 65,604,901 (GRCm39) S1276P possibly damaging Het
Zfp809 A G 9: 22,146,398 (GRCm39) Y29C probably damaging Het
Other mutations in Slc25a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Slc25a4 APN 8 46,662,346 (GRCm39) missense probably damaging 0.99
R1396:Slc25a4 UTSW 8 46,662,325 (GRCm39) missense probably damaging 1.00
R1740:Slc25a4 UTSW 8 46,661,540 (GRCm39) missense probably benign 0.02
R1909:Slc25a4 UTSW 8 46,662,437 (GRCm39) missense probably damaging 1.00
R2352:Slc25a4 UTSW 8 46,662,212 (GRCm39) missense probably benign
R4989:Slc25a4 UTSW 8 46,660,509 (GRCm39) missense probably benign 0.00
R5991:Slc25a4 UTSW 8 46,662,373 (GRCm39) missense probably damaging 1.00
R7593:Slc25a4 UTSW 8 46,662,241 (GRCm39) missense probably damaging 1.00
R8223:Slc25a4 UTSW 8 46,663,896 (GRCm39) missense probably damaging 1.00
R9066:Slc25a4 UTSW 8 46,662,115 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18