Incidental Mutation 'IGL00788:Slc25a21'
ID 28687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a21
Ensembl Gene ENSMUSG00000035472
Gene Name solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21
Synonyms 9930033G19Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.408) question?
Stock # IGL00788
Quality Score
Status
Chromosome 12
Chromosomal Location 56759419-57244257 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to T at 56760597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001538] [ENSMUST00000044634] [ENSMUST00000110680] [ENSMUST00000153250] [ENSMUST00000217690]
AlphaFold Q8BZ09
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
Akap9 A G 5: 4,110,480 (GRCm39) E3061G probably damaging Het
Armh3 C T 19: 45,920,789 (GRCm39) probably null Het
Casd1 A G 6: 4,624,400 (GRCm39) T398A probably benign Het
Ceacam2 C T 7: 25,237,998 (GRCm39) probably null Het
Chst9 A G 18: 15,586,087 (GRCm39) Y159H probably benign Het
Cip2a T A 16: 48,829,432 (GRCm39) probably benign Het
Cops4 A G 5: 100,681,421 (GRCm39) E152G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dpy19l1 A G 9: 24,373,864 (GRCm39) probably benign Het
Gbp8 T A 5: 105,198,863 (GRCm39) E17D probably benign Het
Grik5 G A 7: 24,764,818 (GRCm39) H108Y probably damaging Het
Gsap G A 5: 21,426,303 (GRCm39) probably benign Het
Gsap G A 5: 21,459,022 (GRCm39) V496M probably damaging Het
Hectd1 C T 12: 51,795,571 (GRCm39) S2286N probably damaging Het
Hgf A T 5: 16,803,228 (GRCm39) Q380L probably damaging Het
Hsd11b1 C T 1: 192,923,766 (GRCm39) M1I probably null Het
Kank2 A G 9: 21,691,775 (GRCm39) probably benign Het
Klhl6 G A 16: 19,775,812 (GRCm39) L249F probably benign Het
Lrba A T 3: 86,234,992 (GRCm39) M846L probably damaging Het
Macrod2 T A 2: 142,052,069 (GRCm39) probably benign Het
Mroh9 A T 1: 162,852,227 (GRCm39) S821T probably benign Het
Myo5a A G 9: 75,076,241 (GRCm39) T819A probably benign Het
Neb A T 2: 52,095,744 (GRCm39) probably benign Het
Pcyt1b T C X: 92,778,515 (GRCm39) F255L probably benign Het
Rttn T A 18: 88,990,633 (GRCm39) S57T probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Sorbs1 A G 19: 40,325,487 (GRCm39) probably benign Het
Spats2l T A 1: 57,924,864 (GRCm39) N87K probably damaging Het
Sulf1 A G 1: 12,918,673 (GRCm39) D99G probably damaging Het
Sytl2 T A 7: 90,031,906 (GRCm39) probably benign Het
Trim13 T C 14: 61,843,119 (GRCm39) F379L probably benign Het
Other mutations in Slc25a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Slc25a21 APN 12 56,764,922 (GRCm39) splice site probably null
IGL00776:Slc25a21 APN 12 56,816,990 (GRCm39) missense probably benign 0.43
IGL01396:Slc25a21 APN 12 57,205,974 (GRCm39) missense probably benign
IGL01656:Slc25a21 APN 12 56,785,280 (GRCm39) missense probably damaging 1.00
IGL03095:Slc25a21 APN 12 56,785,410 (GRCm39) missense probably benign 0.09
R0285:Slc25a21 UTSW 12 56,904,810 (GRCm39) critical splice donor site probably null
R1238:Slc25a21 UTSW 12 56,785,272 (GRCm39) missense probably benign 0.00
R1509:Slc25a21 UTSW 12 56,904,864 (GRCm39) missense probably benign 0.00
R1803:Slc25a21 UTSW 12 56,904,872 (GRCm39) missense probably benign 0.01
R3862:Slc25a21 UTSW 12 56,764,920 (GRCm39) splice site probably benign
R4684:Slc25a21 UTSW 12 57,243,721 (GRCm39) missense probably benign 0.00
R4816:Slc25a21 UTSW 12 56,760,623 (GRCm39) missense probably damaging 1.00
R5718:Slc25a21 UTSW 12 56,764,941 (GRCm39) missense probably benign 0.00
R6265:Slc25a21 UTSW 12 57,243,685 (GRCm39) missense probably benign 0.33
R6953:Slc25a21 UTSW 12 57,205,954 (GRCm39) missense probably benign
R7337:Slc25a21 UTSW 12 56,904,828 (GRCm39) missense probably benign 0.03
R8980:Slc25a21 UTSW 12 56,816,949 (GRCm39) missense probably benign 0.00
R9750:Slc25a21 UTSW 12 56,785,382 (GRCm39) missense probably benign 0.00
U24488:Slc25a21 UTSW 12 56,785,282 (GRCm39) missense possibly damaging 0.66
Posted On 2013-04-17