Incidental Mutation 'R8721:Suclg1'
| ID |
662115 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suclg1
|
| Ensembl Gene |
ENSMUSG00000052738 |
| Gene Name |
succinate-CoA ligase, GDP-forming, alpha subunit |
| Synonyms |
Sucla1, 1500000I01Rik |
| MMRRC Submission |
068717-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
73225488-73253890 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73246362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 218
(L218F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064740]
[ENSMUST00000203632]
|
| AlphaFold |
Q9WUM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064740
AA Change: L218F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: L218F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,035,115 (GRCm39) |
D684G |
possibly damaging |
Het |
| Abhd16a |
T |
C |
17: 35,310,571 (GRCm39) |
V94A |
possibly damaging |
Het |
| Acly |
A |
T |
11: 100,412,806 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
G |
T |
16: 85,594,775 (GRCm39) |
T621K |
probably damaging |
Het |
| Arhgap24 |
A |
T |
5: 103,023,565 (GRCm39) |
T200S |
possibly damaging |
Het |
| Arhgap31 |
A |
G |
16: 38,427,058 (GRCm39) |
V598A |
probably benign |
Het |
| Ascc1 |
T |
C |
10: 59,933,928 (GRCm39) |
F323S |
possibly damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,879,335 (GRCm39) |
S1785P |
unknown |
Het |
| Ces2b |
T |
A |
8: 105,560,527 (GRCm39) |
V114D |
possibly damaging |
Het |
| Cfap73 |
T |
C |
5: 120,768,089 (GRCm39) |
E223G |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,314,015 (GRCm39) |
N78S |
possibly damaging |
Het |
| Cyp7a1 |
G |
T |
4: 6,268,273 (GRCm39) |
A484E |
probably damaging |
Het |
| Dnah9 |
G |
T |
11: 65,986,124 (GRCm39) |
T1170K |
probably damaging |
Het |
| Fam83d |
G |
T |
2: 158,627,522 (GRCm39) |
V404L |
probably benign |
Het |
| Fbxw28 |
C |
T |
9: 109,157,382 (GRCm39) |
V289I |
probably benign |
Het |
| Frs2 |
T |
G |
10: 116,909,935 (GRCm39) |
I476L |
probably benign |
Het |
| Gbp2b |
A |
T |
3: 142,312,705 (GRCm39) |
I363F |
possibly damaging |
Het |
| Gm8267 |
A |
T |
14: 44,959,507 (GRCm39) |
F186I |
possibly damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,605 (GRCm39) |
L3P |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,315,189 (GRCm39) |
L3671F |
probably damaging |
Het |
| Hspa12b |
A |
G |
2: 130,982,922 (GRCm39) |
D260G |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,111,619 (GRCm39) |
K440E |
probably damaging |
Het |
| Morn4 |
A |
T |
19: 42,066,439 (GRCm39) |
N49K |
possibly damaging |
Het |
| Mtmr6 |
T |
G |
14: 60,527,128 (GRCm39) |
|
probably null |
Het |
| Mylk |
A |
T |
16: 34,817,176 (GRCm39) |
D1848V |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,140,064 (GRCm39) |
V242A |
probably damaging |
Het |
| Or4a74 |
T |
C |
2: 89,440,186 (GRCm39) |
K87E |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,055,386 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,969,846 (GRCm39) |
Q405L |
possibly damaging |
Het |
| Robo2 |
A |
G |
16: 73,703,798 (GRCm39) |
S30P |
|
Het |
| Tas2r134 |
T |
C |
2: 51,517,571 (GRCm39) |
S17P |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,002,889 (GRCm39) |
L846P |
probably damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,599 (GRCm39) |
N199S |
probably benign |
Het |
| Traj35 |
C |
T |
14: 54,421,272 (GRCm39) |
T14I |
|
Het |
| Tril |
A |
G |
6: 53,797,183 (GRCm39) |
V13A |
probably benign |
Het |
| Tshz2 |
T |
A |
2: 169,727,278 (GRCm39) |
S625T |
probably benign |
Het |
| Ttll12 |
A |
G |
15: 83,464,784 (GRCm39) |
F464L |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,075,044 (GRCm39) |
|
probably null |
Het |
| Zfp346 |
A |
G |
13: 55,261,491 (GRCm39) |
S94G |
possibly damaging |
Het |
| Zfp429 |
T |
A |
13: 67,538,331 (GRCm39) |
Y371F |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,522 (GRCm39) |
E186V |
probably benign |
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 |
|
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 |
|
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'- TGCTATTGATCTAAGTGGCAAACC -3'
(R):5'- AGAAGCTTTGGGCACAGTGC -3'
Sequencing Primer
(F):5'- CCATGCTGTGAATTGTATACAGTCTG -3'
(R):5'- GTGCACTCTCTTAACCCAGAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation