Incidental Mutation 'IGL01614:Slc25a23'
ID92332
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a23
Ensembl Gene ENSMUSG00000046329
Gene Namesolute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01614
Quality Score
Status
Chromosome17
Chromosomal Location57043711-57059863 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57045579 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 435 (R435Q)
Ref Sequence ENSEMBL: ENSMUSP00000040198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040280] [ENSMUST00000058661] [ENSMUST00000169012] [ENSMUST00000171528]
Predicted Effect probably null
Transcript: ENSMUST00000040280
AA Change: R435Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040198
Gene: ENSMUSG00000046329
AA Change: R435Q

DomainStartEndE-ValueType
EFh 13 41 2.72e-3 SMART
EFh 80 108 1.09e0 SMART
EFh 116 144 3.07e1 SMART
Pfam:Mito_carr 181 273 3.8e-25 PFAM
Pfam:Mito_carr 274 366 4.1e-26 PFAM
Pfam:Mito_carr 372 465 6.5e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000058661
SMART Domains Protein: ENSMUSP00000058877
Gene: ENSMUSG00000011486

DomainStartEndE-ValueType
Pfam:Mito_carr 25 118 4.5e-22 PFAM
Pfam:Mito_carr 119 210 7.8e-21 PFAM
Pfam:Mito_carr 215 308 2.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000163442
SMART Domains Protein: ENSMUSP00000132962
Gene: ENSMUSG00000046329

DomainStartEndE-ValueType
Pfam:Mito_carr 1 58 6.5e-15 PFAM
Pfam:Mito_carr 64 123 1.9e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169012
SMART Domains Protein: ENSMUSP00000130857
Gene: ENSMUSG00000011486

DomainStartEndE-ValueType
Pfam:Mito_carr 11 104 3.7e-24 PFAM
Pfam:Mito_carr 105 197 3.5e-22 PFAM
Pfam:Mito_carr 201 294 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169146
Predicted Effect probably null
Transcript: ENSMUST00000170015
AA Change: R234Q
SMART Domains Protein: ENSMUSP00000132169
Gene: ENSMUSG00000046329
AA Change: R234Q

DomainStartEndE-ValueType
Pfam:Mito_carr 1 76 1.9e-19 PFAM
Pfam:Mito_carr 77 166 1.2e-21 PFAM
Pfam:Mito_carr 172 265 7.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171128
Predicted Effect probably benign
Transcript: ENSMUST00000171528
SMART Domains Protein: ENSMUSP00000128348
Gene: ENSMUSG00000046329

DomainStartEndE-ValueType
Pfam:Mito_carr 22 114 8.3e-29 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired mitochondrial function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Slc25a23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Slc25a23 APN 17 57047233 missense probably benign 0.01
IGL01919:Slc25a23 APN 17 57047291 missense possibly damaging 0.61
IGL01933:Slc25a23 APN 17 57052813 nonsense probably null
IGL02297:Slc25a23 APN 17 57053324 missense probably benign 0.00
R1317:Slc25a23 UTSW 17 57053888 missense possibly damaging 0.63
R1411:Slc25a23 UTSW 17 57059622 missense probably damaging 0.97
R1577:Slc25a23 UTSW 17 57047306 missense probably benign 0.00
R2156:Slc25a23 UTSW 17 57045562 missense probably benign 0.00
R4581:Slc25a23 UTSW 17 57052740 missense probably damaging 0.96
R4755:Slc25a23 UTSW 17 57052794 missense possibly damaging 0.92
R4786:Slc25a23 UTSW 17 57047326 missense possibly damaging 0.68
R4789:Slc25a23 UTSW 17 57059597 missense probably damaging 1.00
R5402:Slc25a23 UTSW 17 57053336 missense probably benign 0.07
R5423:Slc25a23 UTSW 17 57053597 missense probably damaging 0.99
R5478:Slc25a23 UTSW 17 57052780 missense probably damaging 1.00
R5659:Slc25a23 UTSW 17 57045500 unclassified probably benign
R5787:Slc25a23 UTSW 17 57053825 missense probably damaging 1.00
R6417:Slc25a23 UTSW 17 57052780 missense probably damaging 0.98
R6420:Slc25a23 UTSW 17 57052780 missense probably damaging 0.98
R6462:Slc25a23 UTSW 17 57052720 missense probably damaging 1.00
R6830:Slc25a23 UTSW 17 57053804 nonsense probably null
R6858:Slc25a23 UTSW 17 57058171 missense probably damaging 1.00
R7311:Slc25a23 UTSW 17 57052827 missense probably damaging 1.00
R7381:Slc25a23 UTSW 17 57053587 missense probably damaging 1.00
R7491:Slc25a23 UTSW 17 57052822 nonsense probably null
R7543:Slc25a23 UTSW 17 57058106 critical splice donor site probably null
R7646:Slc25a23 UTSW 17 57059759 unclassified probably benign
X0026:Slc25a23 UTSW 17 57055350 missense probably benign 0.09
Posted On2013-12-09