Incidental Mutation 'IGL03349:Slc25a24'
ID419608
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 #IGL03349
Quality Score
Status
Chromosome3
Chromosomal Location109123149-109168457 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109149549 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 126 (Q126R)
Ref Sequence ENSEMBL: ENSMUSP00000029477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029477] [ENSMUST00000140786]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029477
AA Change: Q126R

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029477
Gene: ENSMUSG00000040322
AA Change: Q126R

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q 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
IGL01769:Slc25a24 APN 3 109149500 missense probably damaging 0.99
IGL02803:Slc25a24 APN 3 109155071 missense probably damaging 0.99
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
R8362:Slc25a24 UTSW 3 109158562 missense possibly damaging 0.86
Posted On2016-08-02