Incidental Mutation 'IGL00788:Slc25a21'
ID28687
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: 0.299) question?
Stock #IGL00788
Quality Score
Status
Chromosome12
Chromosomal Location56712634-57197472 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to T at 56713812 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001538] [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000153250] [ENSMUST00000217690]
Predicted Effect probably benign
Transcript: ENSMUST00000001538
SMART Domains Protein: ENSMUSP00000001538
Gene: ENSMUSG00000001497

DomainStartEndE-ValueType
PAX 4 128 6.81e-90 SMART
low complexity region 265 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000044634
SMART Domains Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472

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
SMART Domains Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472

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: ENSMUST00000152848
Predicted Effect probably benign
Transcript: ENSMUST00000153250
SMART Domains Protein: ENSMUSP00000117928
Gene: ENSMUSG00000001497

DomainStartEndE-ValueType
PAX 4 128 6.81e-90 SMART
low complexity region 265 274 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217690
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik C T 19: 45,932,350 probably null Het
Akap9 A G 5: 4,060,480 E3061G probably damaging Het
C330027C09Rik T A 16: 49,009,069 probably benign Het
Casd1 A G 6: 4,624,400 T398A probably benign Het
Ceacam2 C T 7: 25,538,573 probably null Het
Chst9 A G 18: 15,453,030 Y159H probably benign Het
Cops4 A G 5: 100,533,555 E152G probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dpy19l1 A G 9: 24,462,568 probably benign Het
Gbp8 T A 5: 105,050,997 E17D probably benign Het
Grik5 G A 7: 25,065,393 H108Y probably damaging Het
Gsap G A 5: 21,221,305 probably benign Het
Gsap G A 5: 21,254,024 V496M probably damaging Het
Hectd1 C T 12: 51,748,788 S2286N probably damaging Het
Hgf A T 5: 16,598,230 Q380L probably damaging Het
Hsd11b1 C T 1: 193,241,458 M1I probably null Het
Kank2 A G 9: 21,780,479 probably benign Het
Klhl6 G A 16: 19,957,062 L249F probably benign Het
Lrba A T 3: 86,327,685 M846L probably damaging Het
Macrod2 T A 2: 142,210,149 probably benign Het
Mroh9 A T 1: 163,024,658 S821T probably benign Het
Myo5a A G 9: 75,168,959 T819A probably benign Het
Neb A T 2: 52,205,732 probably benign Het
Pcyt1b T C X: 93,734,909 F255L probably benign Het
Rttn T A 18: 88,972,509 S57T probably benign Het
Senp2 A G 16: 22,018,364 D121G probably damaging Het
Sorbs1 A G 19: 40,337,043 probably benign Het
Spats2l T A 1: 57,885,705 N87K probably damaging Het
Sulf1 A G 1: 12,848,449 D99G probably damaging Het
Sytl2 T A 7: 90,382,698 probably benign Het
Trim13 T C 14: 61,605,670 F379L probably benign Het
Other mutations in Slc25a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Slc25a21 APN 12 56718137 splice site probably null
IGL00776:Slc25a21 APN 12 56770205 missense probably benign 0.43
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 On2013-04-17