Incidental Mutation 'IGL02640:Sucla2'
| ID |
301701 |
| 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 # |
IGL02640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73819246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 264
(S264Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
|
| AlphaFold |
Q9Z2I9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022706
AA Change: S264Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: S264Y
| 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
AA Change: S264Y
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: S264Y
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
| Arcn1 |
A |
C |
9: 44,662,614 (GRCm39) |
I344S |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,867 (GRCm39) |
E160G |
probably benign |
Het |
| Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
| Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
| Gnb4 |
C |
T |
3: 32,645,374 (GRCm39) |
A106T |
probably benign |
Het |
| Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,912 (GRCm39) |
V134A |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
| Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
| Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
| Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
| Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,942 (GRCm39) |
W419R |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
probably benign |
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 |
|
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 |
2015-04-16 |
Incidental Mutation