Incidental Mutation 'IGL00973:Sucla2'
ID |
28991 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sucla2
|
Ensembl Gene |
ENSMUSG00000022110 |
Gene Name |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
Synonyms |
4930547K18Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.923)
|
Stock # |
IGL00973
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73828347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 318
(I318T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
|
AlphaFold |
Q9Z2I9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022706
AA Change: I318T
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022706 Gene: ENSMUSG00000022110 AA Change: I318T
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 |
noncoding transcript
Transcript: ENSMUST00000159165
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160507
AA Change: I318T
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123765 Gene: ENSMUSG00000022110 AA Change: I318T
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 |
noncoding transcript
Transcript: ENSMUST00000161082
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
Hinfp |
T |
G |
9: 44,209,436 (GRCm39) |
D283A |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
Other mutations in Sucla2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R1136: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 |
|
|
Posted On |
2013-04-17 |