Incidental Mutation 'IGL03265:Slc25a33'
ID415063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a33
Ensembl Gene ENSMUSG00000028982
Gene Namesolute carrier family 25, member 33
Synonyms5730438N18Rik, Pnc1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL03265
Quality Score
Status
Chromosome4
Chromosomal Location149744036-149774277 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 149762436 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 56 (L56R)
Ref Sequence ENSEMBL: ENSMUSP00000101311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105686]
Predicted Effect probably damaging
Transcript: ENSMUST00000105686
AA Change: L56R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101311
Gene: ENSMUSG00000028982
AA Change: L56R

DomainStartEndE-ValueType
Pfam:Mito_carr 7 123 3e-25 PFAM
Pfam:Mito_carr 125 218 2.5e-22 PFAM
Pfam:Mito_carr 229 319 6.2e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,047,991 D4777E probably benign Het
Abca8a C A 11: 110,053,103 M1113I probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akr1a1 A G 4: 116,637,817 M286T probably benign Het
Anapc1 T C 2: 128,627,197 S1575G probably damaging Het
Apba2 A G 7: 64,695,323 D87G probably damaging Het
Arhgap21 A G 2: 20,849,628 F1641S probably benign Het
Atad2b T A 12: 5,024,628 H1062Q probably benign Het
Bivm A G 1: 44,141,845 R396G probably damaging Het
Bmi1 T A 2: 18,681,861 M17K possibly damaging Het
Bptf T C 11: 107,054,628 N2480S probably benign Het
Cacna2d3 T C 14: 28,952,286 E944G probably damaging Het
Ces2a C T 8: 104,737,443 H236Y possibly damaging Het
Dnah7a T C 1: 53,528,848 D1863G probably benign Het
Dnajc17 C A 2: 119,185,718 E91D probably benign Het
Dus2 C A 8: 106,033,791 probably benign Het
Epha6 T C 16: 60,060,231 probably benign Het
Erap1 A T 13: 74,664,127 T354S probably damaging Het
Fbxo11 T C 17: 87,992,831 H851R probably damaging Het
Gm20532 G A 2: 26,632,684 C90Y unknown Het
Gpr21 T C 2: 37,518,074 Y211H probably damaging Het
Hectd4 A G 5: 121,259,939 probably benign Het
Hephl1 G A 9: 15,060,959 T895I probably benign Het
Hey1 T C 3: 8,664,914 Y161C probably benign Het
Kdr A G 5: 75,960,773 Y526H probably damaging Het
Lpp A G 16: 24,761,987 Y151C probably damaging Het
Macc1 A G 12: 119,446,976 N493S probably benign Het
Olfr1022 T A 2: 85,869,150 M186K possibly damaging Het
Olfr1101 T A 2: 86,989,080 Y32F probably damaging Het
Olfr315 T C 11: 58,778,871 V248A probably damaging Het
Olfr605 C A 7: 103,442,448 R225L probably benign Het
Olfr786 A T 10: 129,436,925 T38S possibly damaging Het
Pcdhb21 A G 18: 37,515,153 D445G probably damaging Het
Prkra T C 2: 76,640,270 N123D probably benign Het
Usp36 A G 11: 118,264,809 V714A possibly damaging Het
Vmn1r174 T A 7: 23,754,473 L188* probably null Het
Vmn2r12 A G 5: 109,092,070 V209A probably benign Het
Zfp809 A G 9: 22,243,043 Y352C probably benign Het
Other mutations in Slc25a33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Slc25a33 APN 4 149744919 missense probably damaging 1.00
IGL01501:Slc25a33 APN 4 149756158 splice site probably benign
IGL03192:Slc25a33 APN 4 149744766 missense probably damaging 1.00
R2226:Slc25a33 UTSW 4 149753849 missense probably benign 0.10
R5711:Slc25a33 UTSW 4 149762457 missense possibly damaging 0.91
R5853:Slc25a33 UTSW 4 149753892 missense probably benign 0.26
R6064:Slc25a33 UTSW 4 149752464 missense probably benign 0.17
R8094:Slc25a33 UTSW 4 149756152 missense probably benign 0.35
Posted On2016-08-02