Incidental Mutation 'R1238:Slc25a21'
| ID |
152507 |
| 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 |
039305-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.408)
|
| Stock # |
R1238 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
56759419-57244257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56785272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 202
(I202F)
|
| 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: I195F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039289
Gene: ENSMUSG00000035472
AA Change: I195F
| 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: I202F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000106308
Gene: ENSMUSG00000035472
AA Change: I202F
| 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: I202F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
| Validation Efficiency |
97% (35/36) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,451 (GRCm39) |
N78I |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
| Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
| Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
| Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,482,908 (GRCm39) |
D146G |
probably damaging |
Het |
| Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
| Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
| P2rx1 |
A |
C |
11: 72,903,784 (GRCm39) |
K282T |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
| Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
| Rrs1 |
C |
A |
1: 9,616,026 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
| Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
| Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
| Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTTTTCTACTGACCTTCGGAAGTC -3'
(R):5'- TGGTCCCAAAATGATGTCTCTTGCTTG -3'
Sequencing Primer
(F):5'- CTCAGTTTCTGGATTTGAAAAGGAC -3'
(R):5'- CAAAATGATGTCTCTTGCTTGGTTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation