Incidental Mutation 'R3862:Slc25a21'
ID |
276408 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc25a21
|
Ensembl Gene |
ENSMUSG00000035472 |
Gene Name |
solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 |
Synonyms |
9930033G19Rik |
MMRRC Submission |
040903-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.408)
|
Stock # |
R3862 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
56759419-57244257 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 56764920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044634]
[ENSMUST00000110680]
[ENSMUST00000217690]
|
AlphaFold |
Q8BZ09 |
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 |
probably benign
Transcript: ENSMUST00000217690
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (36/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc2 |
G |
A |
10: 80,143,393 (GRCm39) |
G498R |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 36,939,547 (GRCm39) |
F134I |
possibly damaging |
Het |
Bub1 |
A |
G |
2: 127,656,676 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
C |
T |
6: 18,434,905 (GRCm39) |
V318M |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
Enpp6 |
A |
G |
8: 47,519,027 (GRCm39) |
Q265R |
probably benign |
Het |
Eri1 |
A |
G |
8: 35,958,448 (GRCm39) |
V61A |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fkbp9 |
A |
G |
6: 56,845,890 (GRCm39) |
T409A |
probably benign |
Het |
Gtpbp4 |
A |
G |
13: 9,040,834 (GRCm39) |
V97A |
probably damaging |
Het |
Hapln1 |
C |
T |
13: 89,753,418 (GRCm39) |
Q195* |
probably null |
Het |
Helt |
G |
T |
8: 46,745,315 (GRCm39) |
N189K |
probably benign |
Het |
Hint2 |
A |
G |
4: 43,654,771 (GRCm39) |
V91A |
probably damaging |
Het |
Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,146,323 (GRCm39) |
E1803G |
probably benign |
Het |
Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
Naif1 |
A |
G |
2: 32,342,637 (GRCm39) |
R63G |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,435,064 (GRCm39) |
I126T |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or52h7 |
G |
A |
7: 104,214,145 (GRCm39) |
R239H |
probably benign |
Het |
Or8g53 |
T |
A |
9: 39,683,920 (GRCm39) |
M59L |
probably benign |
Het |
Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
Ppp4r4 |
C |
T |
12: 103,562,680 (GRCm39) |
R550* |
probably null |
Het |
Scgb2b3 |
C |
T |
7: 31,061,430 (GRCm39) |
|
probably null |
Het |
Sgcz |
T |
C |
8: 37,990,565 (GRCm39) |
I263V |
probably benign |
Het |
Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
Snrnp200 |
C |
A |
2: 127,075,019 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
T |
C |
1: 28,816,722 (GRCm39) |
T437A |
probably damaging |
Het |
Sptbn1 |
G |
T |
11: 30,092,329 (GRCm39) |
Q479K |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,826,838 (GRCm39) |
V935D |
probably benign |
Het |
Veph1 |
C |
T |
3: 66,162,313 (GRCm39) |
C115Y |
probably damaging |
Het |
Zc3h12a |
T |
C |
4: 125,020,732 (GRCm39) |
D37G |
probably benign |
Het |
Zfand4 |
A |
T |
6: 116,270,776 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCAATGTCTCATTATTGTGTGG -3'
(R):5'- AACCAATTTAAGAGCTTCCACTTCC -3'
Sequencing Primer
(F):5'- GGCCTTGCAAAGCTTGTC -3'
(R):5'- CCTTTTCTTTTAGGATCCAACCTTGG -3'
|
Posted On |
2015-04-06 |