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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |