Incidental Mutation 'IGL03250:Suclg1'
| ID |
414531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Suclg1
|
| Ensembl Gene |
ENSMUSG00000052738 |
| Gene Name |
succinate-CoA ligase, GDP-forming, alpha subunit |
| Synonyms |
Sucla1, 1500000I01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03250
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
73225488-73253890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73247975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 232
(N232S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064740]
[ENSMUST00000203632]
|
| AlphaFold |
Q9WUM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064740
AA Change: N232S
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: N232S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
29 |
N/A |
INTRINSIC |
|
CoA_binding
|
51 |
147 |
6.28e-35 |
SMART |
|
Pfam:Succ_CoA_lig
|
193 |
336 |
6.7e-11 |
PFAM |
|
Pfam:Ligase_CoA
|
199 |
324 |
9.3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203632
|
| SMART Domains |
Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
28 |
N/A |
INTRINSIC |
|
PDB:1EUD|A
|
37 |
67 |
2e-12 |
PDB |
|
SCOP:d1euca1
|
41 |
68 |
6e-13 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bnipl |
C |
T |
3: 95,151,450 (GRCm39) |
|
probably benign |
Het |
| Calb2 |
G |
T |
8: 110,869,739 (GRCm39) |
L265I |
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,858 (GRCm39) |
R442C |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,940,426 (GRCm39) |
V131A |
probably benign |
Het |
| Ctnnal1 |
G |
T |
4: 56,812,356 (GRCm39) |
N723K |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,711,380 (GRCm39) |
|
probably null |
Het |
| Hdac4 |
A |
C |
1: 91,862,322 (GRCm39) |
|
probably null |
Het |
| Mms19 |
A |
T |
19: 41,942,903 (GRCm39) |
|
probably null |
Het |
| Myh7 |
A |
T |
14: 55,229,704 (GRCm39) |
M113K |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,556 (GRCm39) |
T127A |
possibly damaging |
Het |
| Plekhm3 |
A |
G |
1: 64,977,206 (GRCm39) |
V88A |
possibly damaging |
Het |
| S100a7l2 |
T |
C |
3: 90,997,715 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,846 (GRCm39) |
S80P |
probably damaging |
Het |
| Upk1a |
A |
T |
7: 30,306,403 (GRCm39) |
V121E |
possibly damaging |
Het |
| Vmn1r70 |
C |
T |
7: 10,368,208 (GRCm39) |
T232I |
probably damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,063 (GRCm39) |
T306I |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,699,124 (GRCm39) |
M2524K |
probably damaging |
Het |
| Wdr6 |
A |
G |
9: 108,450,396 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Zfp809 |
A |
G |
9: 22,149,931 (GRCm39) |
T143A |
possibly damaging |
Het |
|
| Other mutations in Suclg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01864:Suclg1
|
APN |
6 |
73,241,280 (GRCm39) |
intron |
probably benign |
|
|
IGL02657:Suclg1
|
APN |
6 |
73,237,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Suclg1
|
APN |
6 |
73,247,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0012:Suclg1
|
UTSW |
6 |
73,247,980 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0012:Suclg1
|
UTSW |
6 |
73,247,980 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0038:Suclg1
|
UTSW |
6 |
73,237,486 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0038:Suclg1
|
UTSW |
6 |
73,237,486 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0379:Suclg1
|
UTSW |
6 |
73,233,211 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0969:Suclg1
|
UTSW |
6 |
73,248,099 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1123:Suclg1
|
UTSW |
6 |
73,233,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2089:Suclg1
|
UTSW |
6 |
73,241,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2091:Suclg1
|
UTSW |
6 |
73,241,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2091:Suclg1
|
UTSW |
6 |
73,241,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5083:Suclg1
|
UTSW |
6 |
73,240,963 (GRCm39) |
missense |
probably benign |
|
|
R6176:Suclg1
|
UTSW |
6 |
73,252,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Suclg1
|
UTSW |
6 |
73,233,192 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6338:Suclg1
|
UTSW |
6 |
73,241,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Suclg1
|
UTSW |
6 |
73,240,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7246:Suclg1
|
UTSW |
6 |
73,253,696 (GRCm39) |
missense |
unknown |
|
|
R7250:Suclg1
|
UTSW |
6 |
73,248,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7524:Suclg1
|
UTSW |
6 |
73,240,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7829:Suclg1
|
UTSW |
6 |
73,252,226 (GRCm39) |
splice site |
probably null |
|
|
R8166:Suclg1
|
UTSW |
6 |
73,237,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8721:Suclg1
|
UTSW |
6 |
73,246,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Suclg1
|
UTSW |
6 |
73,253,729 (GRCm39) |
missense |
unknown |
|
|
R8799:Suclg1
|
UTSW |
6 |
73,248,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation