Incidental Mutation 'IGL01769:Slc25a24'
ID153801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a24
Ensembl Gene ENSMUSG00000040322
Gene Namesolute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24
Synonyms2610016M12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01769
Quality Score
Status
Chromosome3
Chromosomal Location109123149-109168457 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 109149500 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 110 (E110K)
Ref Sequence ENSEMBL: ENSMUSP00000029477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029477] [ENSMUST00000140786]
Predicted Effect probably damaging
Transcript: ENSMUST00000029477
AA Change: E110K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029477
Gene: ENSMUSG00000040322
AA Change: E110K

DomainStartEndE-ValueType
EFh 23 51 3.08e-2 SMART
EFh 59 87 1.32e-1 SMART
EFh 90 118 1.65e-2 SMART
Blast:EFh 126 154 7e-9 BLAST
Pfam:Mito_carr 190 281 2.1e-27 PFAM
Pfam:Mito_carr 282 374 8.1e-27 PFAM
Pfam:Mito_carr 380 473 4.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140786
SMART Domains Protein: ENSMUSP00000143109
Gene: ENSMUSG00000040322

DomainStartEndE-ValueType
EFh 23 51 1.5e-4 SMART
EFh 59 87 6.3e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 131,357,486 M162L probably benign Het
Aldh1a1 A T 19: 20,642,919 T487S probably benign Het
Bahcc1 T C 11: 120,280,204 probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cldn10 G A 14: 118,873,717 probably benign Het
Cntn3 G A 6: 102,208,184 T657I probably damaging Het
Crb1 A T 1: 139,337,068 I204K probably damaging Het
Crim1 C A 17: 78,313,235 T368K probably benign Het
Csad C A 15: 102,180,081 V237L probably benign Het
Cyp39a1 T G 17: 43,749,915 H451Q possibly damaging Het
Dclk2 T C 3: 86,816,360 E376G possibly damaging Het
Dnah10 A T 5: 124,764,944 Y1331F possibly damaging Het
Dnajc11 A T 4: 151,979,302 I452L probably damaging Het
Dpf2 T C 19: 5,912,782 probably benign Het
Elovl2 A C 13: 41,186,944 V225G probably damaging Het
Fancd2 T A 6: 113,545,111 H222Q possibly damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt4 C T 11: 49,635,171 probably benign Het
Foxp2 T C 6: 15,409,835 V478A possibly damaging Het
H2-Q1 G A 17: 35,323,529 V317M probably benign Het
Igkv3-5 G A 6: 70,663,352 probably benign Het
Isg20 G A 7: 78,914,381 C12Y probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Nat8f5 G A 6: 85,817,877 R34C probably benign Het
Olfr924 T C 9: 38,848,333 V73A probably benign Het
Pramel7 A G 2: 87,489,588 S454P probably benign Het
Rarb T A 14: 16,443,760 E176V probably damaging Het
Sema4a T A 3: 88,449,756 I303F possibly damaging Het
Slc7a13 A T 4: 19,839,527 I377L probably benign Het
Smim19 T C 8: 22,463,377 probably null Het
Tiam2 A G 17: 3,427,290 Y596C probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ubxn8 G A 8: 33,629,378 probably benign Het
Vmn2r108 C A 17: 20,471,018 M414I probably benign Het
Vmn2r99 A G 17: 19,380,115 N467S probably damaging Het
Zfp456 T A 13: 67,367,153 T145S probably benign Het
Other mutations in Slc25a24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Slc25a24 APN 3 109159354 missense probably damaging 1.00
IGL01065:Slc25a24 APN 3 109158651 unclassified probably benign
IGL02803:Slc25a24 APN 3 109155071 missense probably damaging 0.99
IGL03349:Slc25a24 APN 3 109149549 missense possibly damaging 0.67
R0318:Slc25a24 UTSW 3 109157000 missense probably benign 0.00
R0448:Slc25a24 UTSW 3 109157016 splice site probably benign
R1554:Slc25a24 UTSW 3 109136270 missense probably benign 0.02
R1564:Slc25a24 UTSW 3 109163503 missense probably damaging 1.00
R1935:Slc25a24 UTSW 3 109136265 missense probably damaging 1.00
R1936:Slc25a24 UTSW 3 109136265 missense probably damaging 1.00
R4936:Slc25a24 UTSW 3 109163548 missense probably damaging 0.98
R5299:Slc25a24 UTSW 3 109166352 missense probably benign 0.03
R6480:Slc25a24 UTSW 3 109136301 missense probably damaging 1.00
R6748:Slc25a24 UTSW 3 109149507 missense possibly damaging 0.67
R7269:Slc25a24 UTSW 3 109158644 missense probably null 0.99
R7483:Slc25a24 UTSW 3 109159435 missense probably damaging 1.00
Posted On2014-02-04