Incidental Mutation 'R5476:Slc25a12'
| ID |
434065 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc25a12
|
| Ensembl Gene |
ENSMUSG00000027010 |
| Gene Name |
solute carrier family 25 (mitochondrial carrier, Aralar), member 12 |
| Synonyms |
B230107K20Rik |
| MMRRC Submission |
043037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R5476 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
71104614-71198125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71105666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 623
(S623P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151937]
[ENSMUST00000184169]
|
| AlphaFold |
Q8BH59 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130715
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147553
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151937
AA Change: S623P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122103
Gene: ENSMUSG00000027010
AA Change: S623P
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
56 |
84 |
1.83e1 |
SMART |
|
EFh
|
90 |
118 |
5.8e-1 |
SMART |
|
EFh
|
161 |
189 |
2.49e0 |
SMART |
|
Pfam:Mito_carr
|
324 |
421 |
3e-27 |
PFAM |
|
Pfam:Mito_carr
|
422 |
513 |
2.9e-18 |
PFAM |
|
Pfam:Mito_carr
|
515 |
609 |
2.1e-27 |
PFAM |
|
low complexity region
|
662 |
677 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184169
|
| SMART Domains |
Protein: ENSMUSP00000139371
Gene: ENSMUSG00000027010
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1irja_
|
3 |
71 |
5e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
T |
G |
7: 44,791,493 (GRCm39) |
N71H |
possibly damaging |
Het |
| Alg5 |
T |
A |
3: 54,654,019 (GRCm39) |
S252T |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,885,497 (GRCm39) |
N560S |
probably benign |
Het |
| Ccdc96 |
A |
G |
5: 36,642,981 (GRCm39) |
D329G |
possibly damaging |
Het |
| Cep128 |
T |
C |
12: 91,180,392 (GRCm39) |
E917G |
probably damaging |
Het |
| Cpox |
G |
C |
16: 58,499,088 (GRCm39) |
V434L |
probably damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,753 (GRCm39) |
R22G |
possibly damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,077,843 (GRCm39) |
Y597N |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,051,456 (GRCm39) |
D671G |
possibly damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,570,801 (GRCm39) |
|
probably null |
Het |
| Faim |
A |
G |
9: 98,874,782 (GRCm39) |
R110G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,653,772 (GRCm39) |
V726A |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,041 (GRCm39) |
|
probably null |
Het |
| Lefty1 |
T |
C |
1: 180,765,263 (GRCm39) |
M277T |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,794,414 (GRCm39) |
M469V |
probably benign |
Het |
| Mroh4 |
A |
T |
15: 74,483,510 (GRCm39) |
I609N |
probably benign |
Het |
| Myl6b |
C |
T |
10: 128,333,216 (GRCm39) |
|
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,766,733 (GRCm39) |
D208G |
probably damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,565 (GRCm39) |
V108L |
probably benign |
Het |
| Pbp2 |
A |
G |
6: 135,286,922 (GRCm39) |
S142P |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,754,476 (GRCm39) |
D165E |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,459,896 (GRCm39) |
K577R |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,671,466 (GRCm39) |
M476T |
probably benign |
Het |
| Prr14l |
T |
C |
5: 33,001,482 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,289,356 (GRCm39) |
V282A |
probably benign |
Het |
| Rif1 |
A |
G |
2: 51,979,607 (GRCm39) |
I430V |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 84,970,352 (GRCm39) |
I967N |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,819 (GRCm39) |
|
probably null |
Het |
| Spata2 |
A |
T |
2: 167,326,079 (GRCm39) |
S247T |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 138,948,899 (GRCm39) |
Y232N |
probably benign |
Het |
| Tor3a |
G |
T |
1: 156,501,137 (GRCm39) |
S100R |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,998,165 (GRCm39) |
F385S |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,328,121 (GRCm39) |
T134S |
probably benign |
Het |
| Vmn1r175 |
C |
T |
7: 23,508,556 (GRCm39) |
V24I |
possibly damaging |
Het |
| Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
| Zfp157 |
T |
G |
5: 138,455,443 (GRCm39) |
V547G |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,079 (GRCm39) |
C551S |
probably damaging |
Het |
|
| Other mutations in Slc25a12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Slc25a12
|
APN |
2 |
71,174,376 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01116:Slc25a12
|
APN |
2 |
71,123,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01375:Slc25a12
|
APN |
2 |
71,138,394 (GRCm39) |
splice site |
probably benign |
|
|
IGL02631:Slc25a12
|
APN |
2 |
71,127,086 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02899:Slc25a12
|
APN |
2 |
71,109,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Slc25a12
|
UTSW |
2 |
71,163,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0689:Slc25a12
|
UTSW |
2 |
71,141,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1148:Slc25a12
|
UTSW |
2 |
71,142,912 (GRCm39) |
splice site |
probably benign |
|
|
R1148:Slc25a12
|
UTSW |
2 |
71,142,912 (GRCm39) |
splice site |
probably benign |
|
|
R1832:Slc25a12
|
UTSW |
2 |
71,164,054 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2044:Slc25a12
|
UTSW |
2 |
71,142,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4537:Slc25a12
|
UTSW |
2 |
71,105,450 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4668:Slc25a12
|
UTSW |
2 |
71,145,406 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4830:Slc25a12
|
UTSW |
2 |
71,127,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Slc25a12
|
UTSW |
2 |
71,112,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6074:Slc25a12
|
UTSW |
2 |
71,106,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6516:Slc25a12
|
UTSW |
2 |
71,154,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7270:Slc25a12
|
UTSW |
2 |
71,154,369 (GRCm39) |
missense |
probably benign |
|
|
R7794:Slc25a12
|
UTSW |
2 |
71,141,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Slc25a12
|
UTSW |
2 |
71,105,533 (GRCm39) |
missense |
unknown |
|
|
R9295:Slc25a12
|
UTSW |
2 |
71,128,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9715:Slc25a12
|
UTSW |
2 |
71,109,899 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Slc25a12
|
UTSW |
2 |
71,127,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGTACCATGCAGCTG -3'
(R):5'- TGGTGACGCTGGATATCATG -3'
Sequencing Primer
(F):5'- ACAGTACCATGCAGCTGACTGG -3'
(R):5'- ACGCTGGATATCATGATTGATGCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation