Incidental Mutation 'IGL00840:Slc25a31'
ID 14070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a31
Ensembl Gene ENSMUSG00000069041
Gene Name solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31
Synonyms 1700034J06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # IGL00840
Quality Score
Status
Chromosome 3
Chromosomal Location 40663301-40680525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40679308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 258 (S258P)
Ref Sequence ENSEMBL: ENSMUSP00000088723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091184]
AlphaFold Q3V132
Predicted Effect probably benign
Transcript: ENSMUST00000091184
AA Change: S258P

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000088723
Gene: ENSMUSG00000069041
AA Change: S258P

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:Mito_carr 17 116 1.3e-26 PFAM
Pfam:Mito_carr 122 219 1.3e-25 PFAM
Pfam:Mito_carr 219 313 8.9e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ADP/ATP carrier family of proteins that exchange cytosolic ADP for matrix ATP in the mitochondria. Cells over-expressing this gene have been shown to display an anti-apoptotic phenotype. This protein is also thought to play a role in spermatogenesis, where it is believed to associate with a part of the flagellar cytoskeleton and with glycolytic enzymes. Male mice with mutations in the mouse ortholog of this gene are sterile and spermatocytes display an early meiotic arrest phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Male mice homozygous for a null allele exhibit infertility, arrested meiosis and increased apoptosis of the spermatocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T C 15: 94,180,363 (GRCm39) Y1764C probably damaging Het
Agbl3 T C 6: 34,776,094 (GRCm39) V200A possibly damaging Het
Akr1b10 T C 6: 34,371,041 (GRCm39) S264P possibly damaging Het
Camkmt T G 17: 85,765,551 (GRCm39) L319* probably null Het
Cdhr2 T C 13: 54,867,965 (GRCm39) W513R probably damaging Het
Cts8 T C 13: 61,399,392 (GRCm39) Y189C probably damaging Het
Cyp2d10 T A 15: 82,288,691 (GRCm39) T264S probably benign Het
Dbt G A 3: 116,339,763 (GRCm39) G384S probably benign Het
Dnah8 G A 17: 31,009,915 (GRCm39) V3769M probably damaging Het
Dnajc16 C A 4: 141,495,314 (GRCm39) G468V probably damaging Het
Eif3d A T 15: 77,846,069 (GRCm39) N351K probably benign Het
F5 T C 1: 164,007,093 (GRCm39) M299T probably benign Het
Fcamr G A 1: 130,740,951 (GRCm39) V457M probably benign Het
Heatr5b A G 17: 79,072,866 (GRCm39) L1599P probably damaging Het
Kl A T 5: 150,904,252 (GRCm39) I335F possibly damaging Het
Knop1 A G 7: 118,452,021 (GRCm39) Y233H probably damaging Het
Lhcgr T C 17: 89,061,164 (GRCm39) probably benign Het
Lypd11 A T 7: 24,422,931 (GRCm39) L129H probably damaging Het
Macrod2 A T 2: 142,018,578 (GRCm39) N237I possibly damaging Het
Myo7a T C 7: 97,700,866 (GRCm39) S2168G probably benign Het
Naxe T C 3: 87,965,290 (GRCm39) I108V probably benign Het
Ncbp1 T A 4: 46,161,307 (GRCm39) W428R probably damaging Het
Nxpe3 T C 16: 55,664,595 (GRCm39) I542V probably damaging Het
Phkb T A 8: 86,684,216 (GRCm39) S424R probably benign Het
Rgs20 C T 1: 5,140,238 (GRCm39) V55I probably benign Het
Ros1 T G 10: 52,020,969 (GRCm39) T648P possibly damaging Het
Rpgr T C X: 10,074,948 (GRCm39) I233V possibly damaging Het
Soat1 A C 1: 156,261,766 (GRCm39) V414G probably damaging Het
St18 A T 1: 6,903,818 (GRCm39) E693V probably damaging Het
Svil T C 18: 5,063,555 (GRCm39) V1029A probably benign Het
Tnfaip3 C A 10: 18,880,874 (GRCm39) V398L probably damaging Het
Ubap1 A G 4: 41,379,562 (GRCm39) T259A probably benign Het
Wdr7 A G 18: 64,060,398 (GRCm39) E1347G possibly damaging Het
Other mutations in Slc25a31
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4706:Slc25a31 UTSW 3 40,670,975 (GRCm39) missense probably damaging 1.00
R4801:Slc25a31 UTSW 3 40,675,975 (GRCm39) missense probably damaging 0.98
R4802:Slc25a31 UTSW 3 40,675,975 (GRCm39) missense probably damaging 0.98
R4889:Slc25a31 UTSW 3 40,675,975 (GRCm39) missense probably benign 0.13
R7579:Slc25a31 UTSW 3 40,679,471 (GRCm39) missense possibly damaging 0.92
R8125:Slc25a31 UTSW 3 40,663,573 (GRCm39) missense probably damaging 1.00
R8261:Slc25a31 UTSW 3 40,679,351 (GRCm39) missense probably damaging 1.00
R9430:Slc25a31 UTSW 3 40,679,297 (GRCm39) critical splice acceptor site probably null
Posted On 2012-12-06