Incidental Mutation 'R1136:Sucla2'
ID |
95057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sucla2
|
Ensembl Gene |
ENSMUSG00000022110 |
Gene Name |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
Synonyms |
4930547K18Rik |
MMRRC Submission |
039209-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
R1136 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 73798074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123898
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
[ENSMUST00000162691]
|
AlphaFold |
Q9Z2I9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022706
|
SMART Domains |
Protein: ENSMUSP00000022706 Gene: ENSMUSG00000022110
Domain | Start | End | E-Value | Type |
Pfam:ATP-grasp_5
|
44 |
277 |
1.6e-11 |
PFAM |
Pfam:ATP-grasp_2
|
54 |
262 |
9.2e-78 |
PFAM |
Pfam:Ligase_CoA
|
321 |
441 |
2.2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160507
|
SMART Domains |
Protein: ENSMUSP00000123765 Gene: ENSMUSG00000022110
Domain | Start | End | E-Value | Type |
Pfam:ATP-grasp_5
|
44 |
277 |
3e-11 |
PFAM |
Pfam:ATP-grasp_2
|
54 |
262 |
9.5e-77 |
PFAM |
Pfam:Ligase_CoA
|
321 |
441 |
2.2e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162723
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
100% (52/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trap allele exhibit perinatal lethality with reduced size, placenta mineralization, decreased mitochondrial DNA and respiration. [provided by MGI curators]
|
Allele List at MGI |
All alleles(7) : Targeted, other(2) Gene trapped(5) |
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
C |
T |
13: 68,878,436 (GRCm39) |
G401S |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,847 (GRCm39) |
F133L |
probably damaging |
Het |
C1qtnf3 |
A |
G |
15: 10,978,670 (GRCm39) |
E290G |
probably damaging |
Het |
Ccdc180 |
C |
A |
4: 45,914,589 (GRCm39) |
D701E |
probably benign |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Csmd3 |
A |
T |
15: 47,539,213 (GRCm39) |
I1508N |
probably damaging |
Het |
Dgkh |
T |
C |
14: 78,862,329 (GRCm39) |
R80G |
probably damaging |
Het |
Dock1 |
T |
A |
7: 134,449,902 (GRCm39) |
V805D |
possibly damaging |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
A |
13: 64,016,934 (GRCm39) |
V679D |
possibly damaging |
Het |
Esp6 |
T |
C |
17: 40,876,284 (GRCm39) |
Y111H |
probably benign |
Het |
Focad |
T |
C |
4: 88,244,417 (GRCm39) |
F799S |
unknown |
Het |
Foxred1 |
C |
A |
9: 35,116,333 (GRCm39) |
M438I |
probably benign |
Het |
Galnt11 |
T |
G |
5: 25,463,943 (GRCm39) |
V405G |
probably damaging |
Het |
Gm4847 |
A |
G |
1: 166,457,935 (GRCm39) |
Y473H |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,115 (GRCm39) |
T461M |
probably damaging |
Het |
Hnrnpu |
A |
T |
1: 178,158,790 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,755,646 (GRCm39) |
|
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,948 (GRCm39) |
H291R |
probably damaging |
Het |
Mfsd14b |
C |
T |
13: 65,243,506 (GRCm39) |
S46N |
probably benign |
Het |
Mtch1 |
C |
T |
17: 29,552,744 (GRCm39) |
|
probably null |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mylk |
T |
C |
16: 34,820,688 (GRCm39) |
I1880T |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,965,815 (GRCm39) |
L1288P |
probably damaging |
Het |
Ncf2 |
A |
T |
1: 152,706,123 (GRCm39) |
H245L |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,654,049 (GRCm39) |
|
probably benign |
Het |
Npdc1 |
G |
T |
2: 25,297,727 (GRCm39) |
A127S |
probably benign |
Het |
Nudt3 |
C |
A |
17: 27,842,080 (GRCm39) |
R27L |
probably benign |
Het |
Nwd1 |
C |
T |
8: 73,424,397 (GRCm39) |
|
probably benign |
Het |
Pex7 |
T |
A |
10: 19,764,434 (GRCm39) |
I170F |
probably benign |
Het |
Phyhipl |
A |
G |
10: 70,404,902 (GRCm39) |
V57A |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,053 (GRCm39) |
P1687S |
possibly damaging |
Het |
Plekhj1 |
A |
T |
10: 80,633,654 (GRCm39) |
|
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,968 (GRCm39) |
L312H |
probably damaging |
Het |
Samsn1 |
T |
C |
16: 75,670,408 (GRCm39) |
I232V |
probably null |
Het |
Sec63 |
A |
T |
10: 42,682,542 (GRCm39) |
D411V |
probably damaging |
Het |
Slc44a4 |
C |
T |
17: 35,146,998 (GRCm39) |
H343Y |
probably damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tent2 |
C |
T |
13: 93,312,205 (GRCm39) |
|
probably null |
Het |
Tmtc3 |
A |
G |
10: 100,307,905 (GRCm39) |
|
probably benign |
Het |
Trafd1 |
C |
T |
5: 121,511,387 (GRCm39) |
R477H |
possibly damaging |
Het |
Uhrf2 |
T |
A |
19: 30,033,626 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,871,549 (GRCm39) |
D578V |
possibly damaging |
Het |
Wdcp |
G |
A |
12: 4,901,655 (GRCm39) |
V504I |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,423,196 (GRCm39) |
Y487H |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,441,846 (GRCm39) |
H147R |
probably damaging |
Het |
|
Other mutations in Sucla2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00973:Sucla2
|
APN |
14 |
73,828,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01539:Sucla2
|
APN |
14 |
73,828,561 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02064:Sucla2
|
APN |
14 |
73,816,913 (GRCm39) |
nonsense |
probably null |
|
IGL02240:Sucla2
|
APN |
14 |
73,828,287 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02640:Sucla2
|
APN |
14 |
73,819,246 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02965:Sucla2
|
APN |
14 |
73,816,871 (GRCm39) |
missense |
probably benign |
0.00 |
3-1:Sucla2
|
UTSW |
14 |
73,806,397 (GRCm39) |
nonsense |
probably null |
|
PIT4812001:Sucla2
|
UTSW |
14 |
73,816,889 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0189:Sucla2
|
UTSW |
14 |
73,830,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R0764:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R0765:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R0844:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1065:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1067:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1162:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1311:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1312:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1345:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1416:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
R1677:Sucla2
|
UTSW |
14 |
73,830,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Sucla2
|
UTSW |
14 |
73,831,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R2126:Sucla2
|
UTSW |
14 |
73,830,108 (GRCm39) |
missense |
possibly damaging |
0.71 |
R2484:Sucla2
|
UTSW |
14 |
73,819,149 (GRCm39) |
missense |
probably benign |
0.12 |
R2566:Sucla2
|
UTSW |
14 |
73,790,244 (GRCm39) |
intron |
probably benign |
|
R3706:Sucla2
|
UTSW |
14 |
73,828,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Sucla2
|
UTSW |
14 |
73,806,429 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5620:Sucla2
|
UTSW |
14 |
73,832,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R5650:Sucla2
|
UTSW |
14 |
73,828,569 (GRCm39) |
missense |
probably benign |
0.38 |
R5947:Sucla2
|
UTSW |
14 |
73,830,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R6045:Sucla2
|
UTSW |
14 |
73,806,404 (GRCm39) |
nonsense |
probably null |
|
R6236:Sucla2
|
UTSW |
14 |
73,831,190 (GRCm39) |
missense |
probably benign |
0.39 |
R6693:Sucla2
|
UTSW |
14 |
73,806,107 (GRCm39) |
nonsense |
probably null |
|
R7706:Sucla2
|
UTSW |
14 |
73,806,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Sucla2
|
UTSW |
14 |
73,797,905 (GRCm39) |
missense |
probably benign |
0.13 |
R9055:Sucla2
|
UTSW |
14 |
73,819,068 (GRCm39) |
intron |
probably benign |
|
R9064:Sucla2
|
UTSW |
14 |
73,828,303 (GRCm39) |
missense |
probably benign |
|
R9380:Sucla2
|
UTSW |
14 |
73,828,312 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGACTACAAGTGCAGCAGCAG -3'
(R):5'- GCTAAAAGGAGGACTTCAGCACCC -3'
Sequencing Primer
(F):5'- AGCAGCAGAGGACCCTTTC -3'
(R):5'- TCCTCAAAAACAAGCCaagtcaaac -3'
|
Posted On |
2014-01-05 |