Incidental Mutation 'IGL00840:Slc25a31'
ID14070
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a31
Ensembl Gene ENSMUSG00000069041
Gene Namesolute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31
Synonyms1700034J06Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.295) question?
Stock #IGL00840
Quality Score
Status
Chromosome3
Chromosomal Location40708855-40726096 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40724877 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 258 (S258P)
Ref Sequence ENSEMBL: ENSMUSP00000088723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091184]
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: 94,282,482 Y1764C probably damaging Het
Agbl3 T C 6: 34,799,159 V200A possibly damaging Het
Akr1b10 T C 6: 34,394,106 S264P possibly damaging Het
Camkmt T G 17: 85,458,123 L319* probably null Het
Cdhr2 T C 13: 54,720,152 W513R probably damaging Het
Cts8 T C 13: 61,251,578 Y189C probably damaging Het
Cyp2d10 T A 15: 82,404,490 T264S probably benign Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dnah8 G A 17: 30,790,941 V3769M probably damaging Het
Dnajc16 C A 4: 141,768,003 G468V probably damaging Het
Eif3d A T 15: 77,961,869 N351K probably benign Het
F5 T C 1: 164,179,524 M299T probably benign Het
Fcamr G A 1: 130,813,214 V457M probably benign Het
Gm4763 A T 7: 24,723,506 L129H probably damaging Het
Heatr5b A G 17: 78,765,437 L1599P probably damaging Het
Kl A T 5: 150,980,787 I335F possibly damaging Het
Knop1 A G 7: 118,852,798 Y233H probably damaging Het
Lhcgr T C 17: 88,753,736 probably benign Het
Macrod2 A T 2: 142,176,658 N237I possibly damaging Het
Myo7a T C 7: 98,051,659 S2168G probably benign Het
Naxe T C 3: 88,057,983 I108V probably benign Het
Ncbp1 T A 4: 46,161,307 W428R probably damaging Het
Nxpe3 T C 16: 55,844,232 I542V probably damaging Het
Phkb T A 8: 85,957,587 S424R probably benign Het
Rgs20 C T 1: 5,070,015 V55I probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Rpgr T C X: 10,208,709 I233V possibly damaging Het
Soat1 A C 1: 156,434,196 V414G probably damaging Het
St18 A T 1: 6,833,594 E693V probably damaging Het
Svil T C 18: 5,063,555 V1029A probably benign Het
Tnfaip3 C A 10: 19,005,126 V398L probably damaging Het
Ubap1 A G 4: 41,379,562 T259A probably benign Het
Wdr7 A G 18: 63,927,327 E1347G possibly damaging Het
Other mutations in Slc25a31
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4706:Slc25a31 UTSW 3 40716545 missense probably damaging 1.00
R4801:Slc25a31 UTSW 3 40721545 missense probably damaging 0.98
R4802:Slc25a31 UTSW 3 40721545 missense probably damaging 0.98
R4889:Slc25a31 UTSW 3 40721545 missense probably benign 0.13
Posted On2012-12-06