Incidental Mutation 'IGL03349:Slc25a24'
ID 419608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a24
Ensembl Gene ENSMUSG00000040322
Gene Name solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24
Synonyms 2610016M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03349
Quality Score
Status
Chromosome 3
Chromosomal Location 109030465-109075725 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109056865 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BMD8
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: 81,629,455 (GRCm39) Y3648H probably benign Het
Akr1c20 T A 13: 4,558,249 (GRCm39) R172* probably null Het
Apba1 A T 19: 23,894,939 (GRCm39) E458D probably benign Het
Atg2a T A 19: 6,308,054 (GRCm39) V1590D possibly damaging Het
Atp13a4 A G 16: 29,275,489 (GRCm39) S332P probably benign Het
Atp8b2 A T 3: 89,865,124 (GRCm39) F163I probably damaging Het
Azin2 A T 4: 128,839,907 (GRCm39) Y228* probably null Het
Cd109 C T 9: 78,543,767 (GRCm39) H104Y probably benign Het
Ces2a G T 8: 105,460,712 (GRCm39) L3F probably damaging Het
Crebbp A G 16: 3,935,222 (GRCm39) V889A possibly damaging Het
Crim1 A T 17: 78,662,579 (GRCm39) K801* probably null Het
Cxcr1 T C 1: 74,231,687 (GRCm39) T112A possibly damaging Het
Cyp1a2 A G 9: 57,587,158 (GRCm39) S378P possibly damaging Het
Cyp2c67 T C 19: 39,632,128 (GRCm39) Y80C probably damaging Het
Dennd4a T C 9: 64,796,256 (GRCm39) W761R probably damaging Het
Dgki C T 6: 37,074,562 (GRCm39) probably null Het
Dnase1l3 T C 14: 7,984,146 (GRCm38) T89A probably benign Het
Dock4 C A 12: 40,783,309 (GRCm39) Q748K probably benign Het
Elmo3 A G 8: 106,033,020 (GRCm39) E68G possibly damaging Het
Fer1l4 C A 2: 155,886,654 (GRCm39) E692* probably null Het
Fkbp9 T A 6: 56,826,703 (GRCm39) M101K probably damaging Het
Grin1 C A 2: 25,200,448 (GRCm39) V225L probably benign Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Heatr5b C A 17: 79,062,749 (GRCm39) K1933N probably benign Het
Hsdl1 A T 8: 120,292,436 (GRCm39) S260T probably benign Het
Hspg2 T C 4: 137,287,833 (GRCm39) probably benign Het
Ift172 A T 5: 31,441,474 (GRCm39) V220E probably benign Het
Igkv12-47 C T 6: 69,727,850 (GRCm39) noncoding transcript Het
Ism1 C T 2: 139,573,895 (GRCm39) R82* probably null Het
Lrch3 A G 16: 32,775,694 (GRCm39) T187A probably damaging Het
Ltbr T A 6: 125,289,329 (GRCm39) D160V probably damaging Het
Lypd11 T A 7: 24,422,261 (GRCm39) S163C probably damaging Het
Mark3 A T 12: 111,594,684 (GRCm39) K353I probably benign Het
Mrm3 A T 11: 76,140,772 (GRCm39) H260L probably damaging Het
Nckap1 T C 2: 80,355,904 (GRCm39) Q627R probably benign Het
Neb T A 2: 52,168,964 (GRCm39) Y1857F possibly damaging Het
Ntsr1 A G 2: 180,142,295 (GRCm39) T29A probably benign Het
Ofcc1 C T 13: 40,226,228 (GRCm39) G768D probably benign Het
Or5k17 T C 16: 58,746,323 (GRCm39) M204V probably benign Het
Pde8b T C 13: 95,179,551 (GRCm39) probably benign Het
Pld4 A T 12: 112,734,313 (GRCm39) Q393L probably benign Het
Prss23 T C 7: 89,159,065 (GRCm39) I335V probably benign Het
Prune2 A G 19: 17,100,710 (GRCm39) I2071M probably damaging Het
Ptprz1 T A 6: 23,000,331 (GRCm39) V807E probably damaging Het
Rnf20 G A 4: 49,655,936 (GRCm39) A961T probably damaging Het
Slc35e1 A T 8: 73,237,696 (GRCm39) Y382N probably damaging Het
Snrpn C T 7: 59,635,613 (GRCm39) G129D probably damaging Het
Spag9 A T 11: 93,984,335 (GRCm39) N386I possibly damaging Het
Ssna1 T C 2: 25,161,542 (GRCm39) N102D possibly damaging Het
Tex21 A T 12: 76,268,365 (GRCm39) I139N probably benign Het
Trgc2 T A 13: 19,489,346 (GRCm39) T129S probably benign Het
Trim21 T C 7: 102,212,484 (GRCm39) T161A probably benign Het
Vmn2r82 T A 10: 79,213,703 (GRCm39) H96Q probably benign Het
Other mutations in Slc25a24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00709:Slc25a24 APN 3 109,066,670 (GRCm39) missense probably damaging 1.00
IGL01065:Slc25a24 APN 3 109,065,967 (GRCm39) unclassified probably benign
IGL01769:Slc25a24 APN 3 109,056,816 (GRCm39) missense probably damaging 0.99
IGL02803:Slc25a24 APN 3 109,062,387 (GRCm39) missense probably damaging 0.99
R0318:Slc25a24 UTSW 3 109,064,316 (GRCm39) missense probably benign 0.00
R0448:Slc25a24 UTSW 3 109,064,332 (GRCm39) splice site probably benign
R1554:Slc25a24 UTSW 3 109,043,586 (GRCm39) missense probably benign 0.02
R1564:Slc25a24 UTSW 3 109,070,819 (GRCm39) missense probably damaging 1.00
R1935:Slc25a24 UTSW 3 109,043,581 (GRCm39) missense probably damaging 1.00
R1936:Slc25a24 UTSW 3 109,043,581 (GRCm39) missense probably damaging 1.00
R4936:Slc25a24 UTSW 3 109,070,864 (GRCm39) missense probably damaging 0.98
R5299:Slc25a24 UTSW 3 109,073,668 (GRCm39) missense probably benign 0.03
R6480:Slc25a24 UTSW 3 109,043,617 (GRCm39) missense probably damaging 1.00
R6748:Slc25a24 UTSW 3 109,056,823 (GRCm39) missense possibly damaging 0.67
R7269:Slc25a24 UTSW 3 109,065,960 (GRCm39) missense probably null 0.99
R7483:Slc25a24 UTSW 3 109,066,751 (GRCm39) missense probably damaging 1.00
R8362:Slc25a24 UTSW 3 109,065,878 (GRCm39) missense possibly damaging 0.86
R9017:Slc25a24 UTSW 3 109,062,395 (GRCm39) missense possibly damaging 0.91
R9022:Slc25a24 UTSW 3 109,070,757 (GRCm39) missense probably benign 0.06
R9178:Slc25a24 UTSW 3 109,064,268 (GRCm39) missense possibly damaging 0.92
R9258:Slc25a24 UTSW 3 109,066,751 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02