Incidental Mutation 'IGL00776:Slc25a21'
| ID |
14067 |
| 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: 0.498)
|
| Stock # |
IGL00776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
56759419-57244257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56816990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BZ09 |
| 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
| 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
AA Change: T99I
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: T99I
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
| Ankrd24 |
A |
C |
10: 81,478,979 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,809 (GRCm39) |
W20G |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
| Smurf1 |
A |
G |
5: 144,818,584 (GRCm39) |
S619P |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
| Strn4 |
C |
T |
7: 16,564,377 (GRCm39) |
R185C |
probably damaging |
Het |
| Tctn3 |
A |
G |
19: 40,585,865 (GRCm39) |
F560S |
probably damaging |
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 |
|
|
IGL00788:Slc25a21
|
APN |
12 |
56,760,597 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation