Incidental Mutation 'R5991:Slc25a4'
ID 482014
Institutional Source Beutler Lab
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
MMRRC Submission 044171-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5991 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 46660205-46664099 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46662373 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 95 (Y95C)
Ref Sequence ENSEMBL: ENSMUSP00000034049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034049]
AlphaFold P48962
Predicted Effect probably damaging
Transcript: ENSMUST00000034049
AA Change: Y95C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034049
Gene: ENSMUSG00000031633
AA Change: Y95C

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
Meta Mutation Damage Score 0.5018 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 96% (53/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,777,032 (GRCm39) R683Q probably damaging Het
Adam8 T A 7: 139,570,200 (GRCm39) H69L probably damaging Het
Bbs2 G T 8: 94,824,914 (GRCm39) R23S probably benign Het
Bod1l A T 5: 41,974,206 (GRCm39) C2369* probably null Het
Capn11 G T 17: 45,970,278 (GRCm39) probably null Het
Carmil2 A G 8: 106,418,023 (GRCm39) Q679R probably null Het
Cep120 T C 18: 53,854,870 (GRCm39) I422V probably benign Het
Cnot7 A C 8: 40,948,696 (GRCm39) probably null Het
Col1a1 T C 11: 94,828,745 (GRCm39) V29A unknown Het
Dnttip1 A T 2: 164,596,100 (GRCm39) Q115L possibly damaging Het
Dyrk4 A G 6: 126,857,188 (GRCm39) V497A probably benign Het
Ep300 A G 15: 81,532,667 (GRCm39) D1635G unknown Het
Ercc5 T A 1: 44,219,990 (GRCm39) C1087* probably null Het
Fap A T 2: 62,348,865 (GRCm39) M517K probably damaging Het
Focad C A 4: 88,319,256 (GRCm39) D1574E possibly damaging Het
Fsip2 C T 2: 82,820,812 (GRCm39) P5515L probably benign Het
Gpr158 T C 2: 21,373,319 (GRCm39) Y85H probably damaging Het
Hc A G 2: 34,896,117 (GRCm39) V1222A possibly damaging Het
Hipk3 C T 2: 104,268,328 (GRCm39) M546I probably damaging Het
Jup T C 11: 100,270,395 (GRCm39) N371D possibly damaging Het
Ltbp4 A G 7: 27,008,741 (GRCm39) Y1262H probably damaging Het
Lyar A G 5: 38,385,209 (GRCm39) E83G probably damaging Het
Lyg2 C T 1: 37,954,800 (GRCm39) probably null Het
Mtmr11 T A 3: 96,075,905 (GRCm39) probably null Het
Myct1 A T 10: 5,554,426 (GRCm39) R98* probably null Het
Nol11 T C 11: 107,061,971 (GRCm39) T612A probably benign Het
Or2l5 T C 16: 19,333,507 (GRCm39) N293S probably damaging Het
Or4b1d T A 2: 89,968,578 (GRCm39) K302* probably null Het
Or4c113 C T 2: 88,885,126 (GRCm39) V215I probably benign Het
Or4f61 C T 2: 111,922,960 (GRCm39) V29M probably benign Het
Or5m9 A G 2: 85,877,254 (GRCm39) I143V probably benign Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pcdhb3 T C 18: 37,434,561 (GRCm39) S176P probably benign Het
Pdcd1lg2 C T 19: 29,431,867 (GRCm39) R212W probably benign Het
Plin3 T C 17: 56,593,576 (GRCm39) Y46C probably damaging Het
Rfx7 G A 9: 72,526,820 (GRCm39) E1337K possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ryr1 G T 7: 28,804,035 (GRCm39) N584K probably damaging Het
Scmh1 T C 4: 120,379,817 (GRCm39) V544A probably benign Het
Sdk2 G A 11: 113,834,080 (GRCm39) T34M probably damaging Het
Serpinb9e T A 13: 33,443,790 (GRCm39) L270H probably damaging Het
Shoc2 T A 19: 53,991,480 (GRCm39) N248K probably damaging Het
Sirpd G T 3: 15,385,818 (GRCm39) A28E probably benign Het
Slc4a1ap A G 5: 31,691,413 (GRCm39) N403S possibly damaging Het
Spink10 T A 18: 62,790,956 (GRCm39) W7R probably null Het
Ssrp1 A G 2: 84,872,640 (GRCm39) K426R possibly damaging Het
Tbc1d24 G A 17: 24,428,043 (GRCm39) probably benign Het
Tead3 A T 17: 28,553,352 (GRCm39) probably null Het
Timd4 A G 11: 46,734,030 (GRCm39) *344W probably null Het
Tmem181a T A 17: 6,339,312 (GRCm39) W115R probably damaging Het
Tmem245 G A 4: 56,916,733 (GRCm39) T65I probably damaging Het
Vmn1r12 G C 6: 57,136,640 (GRCm39) V202L probably damaging Het
Vmn1r80 A G 7: 11,927,423 (GRCm39) T178A probably benign Het
Vps33b T A 7: 79,933,162 (GRCm39) probably null Het
Zmym6 T A 4: 127,002,266 (GRCm39) probably null Het
Other mutations in Slc25a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00529:Slc25a4 APN 8 46,662,346 (GRCm39) missense probably damaging 0.99
IGL02967:Slc25a4 APN 8 46,662,187 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CGACTTGAAGATCTTGGTGAGAC -3'
(R):5'- CCCAAACTAGGTCCAGCATG -3'

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