Incidental Mutation 'IGL00309:Slc25a25'
ID7236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a25
Ensembl Gene ENSMUSG00000026819
Gene Namesolute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25
Synonyms1110030N17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00309
Quality Score
Status
Chromosome2
Chromosomal Location32414487-32451445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 32419160 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 75 (V75E)
Ref Sequence ENSEMBL: ENSMUSP00000141486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028160] [ENSMUST00000052119] [ENSMUST00000113307] [ENSMUST00000113308] [ENSMUST00000113310] [ENSMUST00000136361] [ENSMUST00000153886]
Predicted Effect probably benign
Transcript: ENSMUST00000028160
AA Change: V223E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819
AA Change: V223E

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
EFh 48 76 8.73e0 SMART
EFh 84 112 2.64e-1 SMART
EFh 115 143 1.36e0 SMART
Blast:EFh 151 191 1e-9 BLAST
Pfam:Mito_carr 227 320 1.7e-26 PFAM
Pfam:Mito_carr 321 413 6.4e-26 PFAM
Pfam:Mito_carr 418 512 9.9e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052119
AA Change: V210E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000060581
Gene: ENSMUSG00000026819
AA Change: V210E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EFh 71 99 4.53e0 SMART
EFh 102 130 1.36e0 SMART
Blast:EFh 138 178 2e-9 BLAST
Pfam:Mito_carr 214 307 1.2e-26 PFAM
Pfam:Mito_carr 308 400 2.5e-27 PFAM
Pfam:Mito_carr 405 500 4.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113307
AA Change: V178E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108932
Gene: ENSMUSG00000026819
AA Change: V178E

DomainStartEndE-ValueType
EFh 51 79 9.51e0 SMART
EFh 82 110 1.36e0 SMART
EFh 118 146 8.82e1 SMART
Pfam:Mito_carr 182 275 1.1e-26 PFAM
Pfam:Mito_carr 276 368 2.2e-27 PFAM
Pfam:Mito_carr 373 468 4.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113308
AA Change: V198E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000108933
Gene: ENSMUSG00000026819
AA Change: V198E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
EFh 71 99 4.53e0 SMART
EFh 102 130 1.36e0 SMART
EFh 138 166 8.82e1 SMART
Pfam:Mito_carr 202 295 1.1e-26 PFAM
Pfam:Mito_carr 296 388 2.4e-27 PFAM
Pfam:Mito_carr 393 488 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113310
AA Change: V211E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819
AA Change: V211E

DomainStartEndE-ValueType
low complexity region 11 30 N/A INTRINSIC
EFh 48 76 8.73e0 SMART
EFh 84 112 2.64e-1 SMART
EFh 115 143 1.36e0 SMART
EFh 151 179 8.82e1 SMART
Pfam:Mito_carr 215 308 1.2e-26 PFAM
Pfam:Mito_carr 309 401 2.5e-27 PFAM
Pfam:Mito_carr 406 501 4.9e-21 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000127961
AA Change: V174E
SMART Domains Protein: ENSMUSP00000121932
Gene: ENSMUSG00000026819
AA Change: V174E

DomainStartEndE-ValueType
EFh 36 64 8.99e0 SMART
EFh 67 95 1.36e0 SMART
Blast:EFh 103 143 1e-8 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128611
Predicted Effect probably benign
Transcript: ENSMUST00000136361
AA Change: V163E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000115617
Gene: ENSMUSG00000026819
AA Change: V163E

DomainStartEndE-ValueType
EFh 36 64 8.99e0 SMART
EFh 67 95 1.36e0 SMART
EFh 103 131 8.82e1 SMART
Pfam:Mito_carr 167 260 9.3e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153782
Predicted Effect probably benign
Transcript: ENSMUST00000153886
AA Change: V75E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000141486
Gene: ENSMUSG00000026819
AA Change: V75E

DomainStartEndE-ValueType
SCOP:d1exra_ 1 38 1e-4 SMART
Blast:EFh 15 43 2e-13 BLAST
Pfam:Mito_carr 79 112 1.1e-7 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 belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced physical endurance and metabolic efficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gga1 G T 15: 78,883,355 V98L possibly damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Slc25a25
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Slc25a25 APN 2 32419091 missense probably damaging 1.00
IGL02211:Slc25a25 APN 2 32417440 missense probably damaging 1.00
IGL02393:Slc25a25 APN 2 32417843 missense probably benign 0.40
R0385:Slc25a25 UTSW 2 32417822 missense probably damaging 0.99
R1208:Slc25a25 UTSW 2 32417425 missense probably benign 0.11
R1208:Slc25a25 UTSW 2 32417425 missense probably benign 0.11
R1611:Slc25a25 UTSW 2 32420379 missense probably damaging 1.00
R1960:Slc25a25 UTSW 2 32420651 splice site probably null
R2405:Slc25a25 UTSW 2 32417719 splice site probably null
R3749:Slc25a25 UTSW 2 32420380 missense probably benign 0.21
R4446:Slc25a25 UTSW 2 32430609 missense probably benign 0.00
R4815:Slc25a25 UTSW 2 32420410 missense probably damaging 1.00
R5245:Slc25a25 UTSW 2 32421328 nonsense probably null
R6884:Slc25a25 UTSW 2 32420662 missense probably benign 0.34
R7144:Slc25a25 UTSW 2 32419166 missense probably damaging 1.00
R7210:Slc25a25 UTSW 2 32420396 missense possibly damaging 0.89
R7255:Slc25a25 UTSW 2 32421372 missense possibly damaging 0.60
R7667:Slc25a25 UTSW 2 32451209 missense probably benign 0.00
R7893:Slc25a25 UTSW 2 32451165 nonsense probably null
R7976:Slc25a25 UTSW 2 32451165 nonsense probably null
X0021:Slc25a25 UTSW 2 32421514 missense probably damaging 1.00
Posted On2012-04-20