Incidental Mutation 'IGL00776:Slc25a21'
ID14067
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a21
Ensembl Gene ENSMUSG00000035472
Gene Namesolute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
Synonyms9930033G19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.427) question?
Stock #IGL00776
Quality Score
Status
Chromosome12
Chromosomal Location56712634-57197472 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 56770205 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 99 (T99I)
Ref Sequence ENSEMBL: ENSMUSP00000151751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000217690]
Predicted Effect probably benign
Transcript: ENSMUST00000044634
AA Change: T92I

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
AA Change: T92I

DomainStartEndE-ValueType
Pfam:Mito_carr 10 104 2.3e-24 PFAM
Pfam:Mito_carr 107 200 1.3e-16 PFAM
Pfam:Mito_carr 202 298 3.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110680
AA Change: T99I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: T99I

DomainStartEndE-ValueType
Pfam:Mito_carr 28 111 4.7e-21 PFAM
Pfam:Mito_carr 114 207 7.7e-17 PFAM
Pfam:Mito_carr 209 305 2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160892
Predicted Effect probably benign
Transcript: ENSMUST00000217690
AA Change: T99I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,540,371 D90E probably benign Het
Abcb5 T C 12: 118,919,854 S560G probably damaging Het
Ankrd24 A C 10: 81,643,145 probably benign Het
Atp8a1 A T 5: 67,749,143 I461N probably benign Het
Eif4a1 G A 11: 69,669,096 L166F probably damaging Het
Herc1 T A 9: 66,421,038 H1542Q probably benign Het
Itih4 G A 14: 30,889,604 V95I probably benign Het
Kcnh7 A G 2: 62,850,376 I289T probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Mterf1a A C 5: 3,891,809 W20G possibly damaging Het
Slc24a5 T C 2: 125,080,889 S161P probably damaging Het
Smurf1 A G 5: 144,881,774 S619P probably benign Het
Sorbs1 C T 19: 40,344,351 probably null Het
Strn4 C T 7: 16,830,452 R185C probably damaging Het
Tctn3 A G 19: 40,597,421 F560S probably damaging Het
Other mutations in Slc25a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Slc25a21 APN 12 56718137 splice site probably null
IGL00788:Slc25a21 APN 12 56713812 utr 3 prime probably benign
IGL01396:Slc25a21 APN 12 57159189 missense probably benign
IGL01656:Slc25a21 APN 12 56738495 missense probably damaging 1.00
IGL03095:Slc25a21 APN 12 56738625 missense probably benign 0.09
R0285:Slc25a21 UTSW 12 56858025 critical splice donor site probably null
R1238:Slc25a21 UTSW 12 56738487 missense probably benign 0.00
R1509:Slc25a21 UTSW 12 56858079 missense probably benign 0.00
R1803:Slc25a21 UTSW 12 56858087 missense probably benign 0.01
R3862:Slc25a21 UTSW 12 56718135 splice site probably benign
R4684:Slc25a21 UTSW 12 57196936 missense probably benign 0.00
R4816:Slc25a21 UTSW 12 56713838 missense probably damaging 1.00
R5718:Slc25a21 UTSW 12 56718156 missense probably benign 0.00
R6265:Slc25a21 UTSW 12 57196900 missense probably benign 0.33
R6953:Slc25a21 UTSW 12 57159169 missense probably benign
R7337:Slc25a21 UTSW 12 56858043 missense probably benign 0.03
U24488:Slc25a21 UTSW 12 56738497 missense possibly damaging 0.66
Posted On2012-12-06