Incidental Mutation 'IGL01702:Slc25a3'
ID 104501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a3
Ensembl Gene ENSMUSG00000061904
Gene Name solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3
Synonyms Phc, 5730556H19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01702
Quality Score
Status
Chromosome 10
Chromosomal Location 90952436-90959902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90953987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 242 (Y242N)
Ref Sequence ENSEMBL: ENSMUSP00000127098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076694] [ENSMUST00000163246] [ENSMUST00000164505] [ENSMUST00000170810]
AlphaFold Q8VEM8
Predicted Effect probably benign
Transcript: ENSMUST00000076694
AA Change: Y241N

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000075987
Gene: ENSMUSG00000061904
AA Change: Y241N

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 58 147 3.9e-23 PFAM
Pfam:Mito_carr 156 243 4.8e-19 PFAM
Pfam:Mito_carr 254 338 3.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000103979
Predicted Effect probably benign
Transcript: ENSMUST00000163246
SMART Domains Protein: ENSMUSP00000129301
Gene: ENSMUSG00000061904

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164505
AA Change: Y241N

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132480
Gene: ENSMUSG00000061904
AA Change: Y241N

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 58 147 3.9e-23 PFAM
Pfam:Mito_carr 156 243 4.8e-19 PFAM
Pfam:Mito_carr 254 338 3.7e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167455
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169339
Predicted Effect probably damaging
Transcript: ENSMUST00000170810
AA Change: Y242N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000127098
Gene: ENSMUSG00000061904
AA Change: Y242N

DomainStartEndE-ValueType
low complexity region 29 46 N/A INTRINSIC
Pfam:Mito_carr 59 147 8.6e-21 PFAM
Pfam:Mito_carr 157 245 4.4e-19 PFAM
Pfam:Mito_carr 255 339 2.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172442
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 catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7a T C 15: 77,273,886 (GRCm39) probably null Het
Asb2 C T 12: 103,302,164 (GRCm39) G128E possibly damaging Het
Atp11c A T X: 59,315,263 (GRCm39) S683T probably damaging Het
Brinp3 A G 1: 146,627,735 (GRCm39) probably benign Het
Cpeb3 A T 19: 37,103,782 (GRCm39) M369K possibly damaging Het
Exoc5 A T 14: 49,253,072 (GRCm39) C580* probably null Het
Gm9956 A G 10: 56,621,335 (GRCm39) Het
Gzmk C T 13: 113,317,084 (GRCm39) V32I probably damaging Het
Hsf4 T C 8: 105,998,221 (GRCm39) I129T probably damaging Het
Igkv1-115 T A 6: 68,138,516 (GRCm39) W40R probably damaging Het
Iqub A T 6: 24,500,312 (GRCm39) M314K probably benign Het
Krt87 T C 15: 101,389,099 (GRCm39) T78A probably benign Het
Med28 T C 5: 45,682,633 (GRCm39) S100P probably benign Het
Prx G A 7: 27,219,212 (GRCm39) V1238I probably benign Het
Ptprq T C 10: 107,353,727 (GRCm39) N2263S probably benign Het
Rab12 A G 17: 66,826,384 (GRCm39) F61S probably damaging Het
Serpinb9d T C 13: 33,387,006 (GRCm39) F358S probably damaging Het
Smtnl1 T C 2: 84,649,034 (GRCm39) I73M possibly damaging Het
Tnp1 C A 1: 73,054,877 (GRCm39) probably benign Het
Trim5 T C 7: 103,928,638 (GRCm39) E101G probably damaging Het
Other mutations in Slc25a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Slc25a3 APN 10 90,953,977 (GRCm39) missense probably benign 0.01
R1215:Slc25a3 UTSW 10 90,953,170 (GRCm39) missense possibly damaging 0.95
R4737:Slc25a3 UTSW 10 90,958,050 (GRCm39) missense possibly damaging 0.66
R5418:Slc25a3 UTSW 10 90,955,398 (GRCm39) missense probably benign
R5799:Slc25a3 UTSW 10 90,957,903 (GRCm39) missense probably benign
R6228:Slc25a3 UTSW 10 90,958,090 (GRCm39) missense probably damaging 0.98
R6269:Slc25a3 UTSW 10 90,952,963 (GRCm39) nonsense probably null
R6414:Slc25a3 UTSW 10 90,958,190 (GRCm39) missense possibly damaging 0.66
R6866:Slc25a3 UTSW 10 90,955,567 (GRCm39) missense probably damaging 0.99
R7404:Slc25a3 UTSW 10 90,952,902 (GRCm39) missense possibly damaging 0.69
R7633:Slc25a3 UTSW 10 90,953,904 (GRCm39) critical splice donor site probably null
R8222:Slc25a3 UTSW 10 90,954,053 (GRCm39) missense probably damaging 1.00
R8751:Slc25a3 UTSW 10 90,952,960 (GRCm39) missense probably benign 0.06
Z1176:Slc25a3 UTSW 10 90,959,473 (GRCm39) missense probably benign
Posted On 2014-01-21