Incidental Mutation 'IGL03095:Slc25a21'
| ID |
418532 |
| 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 # |
IGL03095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
56759419-57244257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56785410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 156
(T156A)
|
| 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: T149A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
AA Change: T149A
| 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: T156A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: T156A
| 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 |
probably benign
Transcript: ENSMUST00000217690
AA Change: T156A
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,738,321 (GRCm39) |
D96E |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,794,265 (GRCm39) |
E632D |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
| Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,869,732 (GRCm39) |
S223P |
probably damaging |
Het |
| Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
| Lin54 |
A |
T |
5: 100,602,337 (GRCm39) |
V400E |
probably damaging |
Het |
| Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
| Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
| Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
| Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
| Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
| Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
| Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,629 (GRCm39) |
E480G |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
| Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
| Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation