Incidental Mutation 'IGL02272:Slc25a46'
ID 287184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a46
Ensembl Gene ENSMUSG00000024259
Gene Name solute carrier family 25, member 46
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02272
Quality Score
Status
Chromosome 18
Chromosomal Location 31580168-31609902 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31583568 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 294 (T294A)
Ref Sequence ENSEMBL: ENSMUSP00000053325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060396]
AlphaFold Q9CQS4
Predicted Effect probably benign
Transcript: ENSMUST00000060396
AA Change: T294A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053325
Gene: ENSMUSG00000024259
AA Change: T294A

DomainStartEndE-ValueType
low complexity region 74 95 N/A INTRINSIC
transmembrane domain 268 290 N/A INTRINSIC
Pfam:Mito_carr 311 417 2.7e-12 PFAM
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 mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,450,021 C759* probably null Het
Adgrg6 T A 10: 14,468,829 M127L probably damaging Het
AI314180 A T 4: 58,811,731 N1439K probably benign Het
Anxa9 A G 3: 95,305,894 V47A probably benign Het
Arhgef12 T A 9: 43,001,452 D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 probably benign Het
Ccdc169 A G 3: 55,150,748 E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 probably null Het
Cntnap1 G A 11: 101,178,316 V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 V852E probably damaging Het
Csmd1 A T 8: 16,199,893 S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 probably benign Het
Dusp6 T A 10: 99,266,019 V289D probably damaging Het
Epha6 C T 16: 59,818,937 R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 V152E probably benign Het
Hmces A G 6: 87,917,855 probably null Het
Hsph1 A G 5: 149,617,530 S852P probably benign Het
Kat6b A C 14: 21,626,778 K394Q probably damaging Het
Kdr G A 5: 75,961,840 T475I probably benign Het
Klhl25 A G 7: 75,866,620 T425A probably benign Het
Klk1b8 T A 7: 43,952,793 C50S probably damaging Het
Kri1 T C 9: 21,276,168 Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 S953P probably benign Het
Lpin1 A G 12: 16,547,600 V681A probably damaging Het
Lpin3 A G 2: 160,901,661 T508A probably benign Het
Moxd1 T A 10: 24,282,700 Y417* probably null Het
Mthfd1l T G 10: 4,041,812 I588S probably damaging Het
Myo5c C A 9: 75,266,160 N543K possibly damaging Het
Myo9a T A 9: 59,884,600 probably benign Het
Nme8 T C 13: 19,658,826 Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 N249T probably damaging Het
Pex11g A G 8: 3,465,898 V45A probably benign Het
Pkhd1 C A 1: 20,209,260 G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 V353A probably damaging Het
Prss16 T A 13: 22,003,035 Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 V524E probably damaging Het
Rap1gap A G 4: 137,716,566 Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 L598F probably damaging Het
Sardh T G 2: 27,224,991 D550A probably benign Het
Serpinc1 T G 1: 160,999,992 I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 T196S probably damaging Het
Srrm2 T C 17: 23,815,782 probably benign Het
Steap2 T A 5: 5,677,612 N241I probably benign Het
Tcaf3 T C 6: 42,596,660 Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 Q52K possibly damaging Het
Ttn A G 2: 76,735,028 V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 S99R probably benign Het
Ubxn2b A T 4: 6,216,071 K331N probably damaging Het
Usp50 G A 2: 126,769,944 T232I probably damaging Het
Vmn2r116 G A 17: 23,385,999 M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 R383G probably benign Het
Other mutations in Slc25a46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Slc25a46 APN 18 31605815 unclassified probably benign
LCD18:Slc25a46 UTSW 18 31597313 intron probably benign
R0375:Slc25a46 UTSW 18 31583266 missense possibly damaging 0.46
R0675:Slc25a46 UTSW 18 31609588 missense probably benign 0.00
R1155:Slc25a46 UTSW 18 31583615 missense probably benign 0.16
R1248:Slc25a46 UTSW 18 31609754 missense possibly damaging 0.67
R1619:Slc25a46 UTSW 18 31583489 missense probably benign 0.00
R1761:Slc25a46 UTSW 18 31607262 missense possibly damaging 0.80
R1803:Slc25a46 UTSW 18 31594588 missense probably damaging 1.00
R1954:Slc25a46 UTSW 18 31600241 splice site probably null
R2013:Slc25a46 UTSW 18 31609725 missense probably benign
R2015:Slc25a46 UTSW 18 31609725 missense probably benign
R2519:Slc25a46 UTSW 18 31602761 missense probably benign
R3896:Slc25a46 UTSW 18 31583672 missense probably damaging 1.00
R4423:Slc25a46 UTSW 18 31609598 missense probably benign
R4647:Slc25a46 UTSW 18 31600192 missense probably damaging 0.99
R4948:Slc25a46 UTSW 18 31583283 missense probably damaging 0.96
R4959:Slc25a46 UTSW 18 31602754 missense possibly damaging 0.85
R5017:Slc25a46 UTSW 18 31605783 missense probably damaging 0.96
R5654:Slc25a46 UTSW 18 31583240 missense probably damaging 1.00
R7983:Slc25a46 UTSW 18 31583430 missense probably damaging 1.00
R9027:Slc25a46 UTSW 18 31583379 missense probably benign 0.00
Z1176:Slc25a46 UTSW 18 31609685 missense probably damaging 1.00
Posted On 2015-04-16