Incidental Mutation 'R1123:Suclg1'
| ID |
95848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suclg1
|
| Ensembl Gene |
ENSMUSG00000052738 |
| Gene Name |
succinate-CoA ligase, GDP-forming, alpha subunit |
| Synonyms |
Sucla1, 1500000I01Rik |
| MMRRC Submission |
039196-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1123 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
73225488-73253890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73233210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 51
(I51V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145246
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064740]
[ENSMUST00000123159]
[ENSMUST00000203632]
|
| AlphaFold |
Q9WUM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064740
AA Change: I52V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: I52V
| 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: ENSMUST00000123159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173409
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203632
AA Change: I51V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738
AA Change: I51V
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,154,906 (GRCm39) |
M987K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,929 (GRCm39) |
D516G |
probably benign |
Het |
| Arhgap12 |
A |
C |
18: 6,031,822 (GRCm39) |
V573G |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,305,351 (GRCm39) |
S2P |
probably damaging |
Het |
| Cel |
T |
C |
2: 28,446,752 (GRCm39) |
Y473C |
probably damaging |
Het |
| Cfap157 |
C |
T |
2: 32,667,935 (GRCm39) |
V469M |
possibly damaging |
Het |
| Cyp2c40 |
C |
G |
19: 39,801,121 (GRCm39) |
V45L |
probably benign |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,821,762 (GRCm39) |
T706A |
probably benign |
Het |
| Esyt1 |
A |
T |
10: 128,352,427 (GRCm39) |
V728E |
probably benign |
Het |
| Etnk2 |
A |
G |
1: 133,301,010 (GRCm39) |
D259G |
probably benign |
Het |
| Evi5 |
T |
G |
5: 107,968,444 (GRCm39) |
I184L |
probably benign |
Het |
| Fem1a |
G |
C |
17: 56,564,791 (GRCm39) |
D295H |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,424,799 (GRCm39) |
F83S |
probably damaging |
Het |
| Hephl1 |
T |
C |
9: 14,991,436 (GRCm39) |
T601A |
probably benign |
Het |
| Isoc1 |
T |
C |
18: 58,804,695 (GRCm39) |
V201A |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,501,346 (GRCm39) |
D830V |
probably damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,166,544 (GRCm39) |
C646F |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,299,428 (GRCm39) |
Y1255H |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,212 (GRCm39) |
S115P |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,697 (GRCm39) |
Y102* |
probably null |
Het |
| Or9m1 |
A |
C |
2: 87,733,248 (GRCm39) |
I257M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,328 (GRCm39) |
A739T |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,386,111 (GRCm39) |
V920A |
probably damaging |
Het |
| Slc16a7 |
A |
C |
10: 125,067,016 (GRCm39) |
S208A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,435,047 (GRCm39) |
I208N |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,336 (GRCm39) |
L286P |
probably 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 |
|
IGL03250:Suclg1
|
APN |
6 |
73,247,975 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGTTCCTTTGTGGGGAATGA -3'
(R):5'- CGCAATGTCCATTTTACAATGTCCACC -3'
Sequencing Primer
(F):5'- cacccgactgctcttcc -3'
(R):5'- ATTTTACAATGTCCACCTGCAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation