Incidental Mutation 'R4889:Slc25a31'
ID 377186
Institutional Source Beutler Lab
Gene Symbol Slc25a31
Ensembl Gene ENSMUSG00000069041
Gene Name solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31
Synonyms 1700034J06Rik
MMRRC Submission 042494-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R4889 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 40663301-40680525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40675975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 174 (I174V)
Ref Sequence ENSEMBL: ENSMUSP00000088723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091184]
AlphaFold Q3V132
Predicted Effect probably benign
Transcript: ENSMUST00000091184
AA Change: I174V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088723
Gene: ENSMUSG00000069041
AA Change: I174V

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
Meta Mutation Damage Score 0.1140 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (59/60)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado G C 10: 67,384,135 (GRCm39) R157G probably benign Het
Akap12 C A 10: 4,306,535 (GRCm39) A1115E probably damaging Het
Ankhd1 A G 18: 36,711,787 (GRCm39) M196V probably null Het
Appl2 G A 10: 83,476,922 (GRCm39) T34I probably damaging Het
Arhgap21 T C 2: 20,885,279 (GRCm39) S472G probably benign Het
Asmt G T X: 169,110,764 (GRCm39) R250L possibly damaging Het
Baz2b A T 2: 59,767,070 (GRCm39) I870N probably damaging Het
Card11 T C 5: 140,871,700 (GRCm39) Q667R possibly damaging Het
Cercam A G 2: 29,771,845 (GRCm39) D555G probably damaging Het
Cop1 A T 1: 159,112,159 (GRCm39) R284S probably damaging Het
Cr2 A G 1: 194,858,893 (GRCm39) V9A possibly damaging Het
Ctsm A G 13: 61,686,215 (GRCm39) F106S probably damaging Het
Dhx9 A T 1: 153,356,895 (GRCm39) L118Q probably damaging Het
Dnah5 G T 15: 28,235,938 (GRCm39) C355F probably benign Het
Dock1 C A 7: 134,346,705 (GRCm39) N212K probably benign Het
Efemp2 T A 19: 5,525,148 (GRCm39) L18Q probably null Het
Flvcr1 A G 1: 190,757,764 (GRCm39) L176P probably damaging Het
Gm16505 A T 13: 3,411,125 (GRCm39) noncoding transcript Het
Gm6457 A T 18: 14,703,501 (GRCm39) noncoding transcript Het
Gnptab A G 10: 88,269,775 (GRCm39) N826S probably benign Het
Hdc T G 2: 126,436,053 (GRCm39) N606T probably benign Het
Itga3 T C 11: 94,959,127 (GRCm39) D113G probably benign Het
Maml3 C T 3: 51,601,931 (GRCm39) probably benign Het
Mkrn1 A T 6: 39,396,939 (GRCm39) probably benign Het
Myo18a T C 11: 77,723,238 (GRCm39) V720A probably damaging Het
Nkx3-1 G A 14: 69,428,447 (GRCm39) probably null Het
Npat T C 9: 53,473,507 (GRCm39) I433T probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or10ag53 A T 2: 87,082,991 (GRCm39) I237F probably damaging Het
Or1l4 A G 2: 37,092,057 (GRCm39) Y268C probably damaging Het
Or5m12 C T 2: 85,735,092 (GRCm39) C102Y possibly damaging Het
Pde6c T A 19: 38,121,599 (GRCm39) M69K probably benign Het
Pde7b T C 10: 20,423,823 (GRCm39) T18A probably benign Het
Plcz1 T C 6: 139,953,474 (GRCm39) K381R probably benign Het
Ppfia4 A C 1: 134,228,252 (GRCm39) F1095V probably damaging Het
Sfxn3 T C 19: 45,038,254 (GRCm39) F78S probably damaging Het
Sim1 A T 10: 50,857,420 (GRCm39) Y390F probably benign Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco1b2 T G 6: 141,602,469 (GRCm39) probably benign Het
Smarca5 C A 8: 81,431,326 (GRCm39) D964Y possibly damaging Het
Sptbn2 T A 19: 4,779,458 (GRCm39) S338R possibly damaging Het
Srcap T C 7: 127,137,719 (GRCm39) V1023A possibly damaging Het
Syt16 A G 12: 74,176,269 (GRCm39) E46G probably damaging Het
Tas2r114 A T 6: 131,666,758 (GRCm39) I90K probably damaging Het
Tlx1 G T 19: 45,139,418 (GRCm39) D22Y probably damaging Het
Vamp8 G A 6: 72,362,522 (GRCm39) L93F possibly damaging Het
Vill T C 9: 118,892,409 (GRCm39) S347P possibly damaging Het
Zfp974 A G 7: 27,610,244 (GRCm39) Y494H possibly damaging Het
Other mutations in Slc25a31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00840:Slc25a31 APN 3 40,679,308 (GRCm39) missense probably benign 0.33
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
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
Predicted Primers PCR Primer
(F):5'- AACCTTCCTTGGATGAATGGG -3'
(R):5'- CAAACGAGGACACTTTCTGC -3'

Sequencing Primer
(F):5'- ATGAATGGGAAGATTATTTGTGTCC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2016-03-17