Incidental Mutation 'IGL02240:Sucla2'
ID286040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sucla2
Ensembl Gene ENSMUSG00000022110
Gene Namesuccinate-Coenzyme A ligase, ADP-forming, beta subunit
Synonyms4930547K18Rik
Accession Numbers

Genbank: NM_011506; MGI: 1306775

Is this an essential gene? Probably essential (E-score: 0.908) question?
Stock #IGL02240
Quality Score
Status
Chromosome14
Chromosomal Location73525319-73596142 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73590847 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 298 (D298G)
Ref Sequence ENSEMBL: ENSMUSP00000123765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022706] [ENSMUST00000160507]
Predicted Effect probably damaging
Transcript: ENSMUST00000022706
AA Change: D298G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: D298G

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000160507
AA Change: D298G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: D298G

DomainStartEndE-ValueType
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,803,662 E1169G probably damaging Het
Cdc34 A G 10: 79,687,989 D168G possibly damaging Het
Cwc27 A T 13: 104,806,643 F130L probably damaging Het
Dglucy T A 12: 100,871,413 M635K possibly damaging Het
Eral1 G A 11: 78,077,861 R149* probably null Het
Gad1-ps A G 10: 99,444,958 noncoding transcript Het
Glis3 A T 19: 28,531,525 L353Q probably damaging Het
Gsta2 T A 9: 78,331,159 I213F probably benign Het
Ist1 A T 8: 109,682,204 probably benign Het
Kif1b A G 4: 149,246,414 V549A probably damaging Het
Lrp2 C T 2: 69,535,046 R261H probably benign Het
Msh4 T C 3: 153,873,674 N512S probably damaging Het
Nlrp2 A T 7: 5,327,823 S525T probably damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr923 T A 9: 38,828,306 V205D probably benign Het
Pcdhb10 A T 18: 37,412,402 H177L possibly damaging Het
Plcb3 A T 19: 6,958,080 probably benign Het
Podxl A G 6: 31,524,998 L342P probably damaging Het
Psd4 T G 2: 24,396,377 S330A probably benign Het
Tecr T C 8: 83,573,416 D107G probably damaging Het
Vamp4 T A 1: 162,577,877 N24K possibly damaging Het
Zfp91 A G 19: 12,776,406 probably benign Het
Other mutations in Sucla2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Sucla2 APN 14 73590907 missense possibly damaging 0.81
IGL01539:Sucla2 APN 14 73591121 missense probably damaging 0.97
IGL02064:Sucla2 APN 14 73579473 nonsense probably null
IGL02640:Sucla2 APN 14 73581806 missense probably benign 0.45
IGL02965:Sucla2 APN 14 73579431 missense probably benign 0.00
3-1:Sucla2 UTSW 14 73568957 nonsense probably null
PIT4812001:Sucla2 UTSW 14 73579449 missense possibly damaging 0.89
R0189:Sucla2 UTSW 14 73592648 missense probably damaging 1.00
R0764:Sucla2 UTSW 14 73560634 unclassified probably benign
R0765:Sucla2 UTSW 14 73560634 unclassified probably benign
R0844:Sucla2 UTSW 14 73560634 unclassified probably benign
R1065:Sucla2 UTSW 14 73560634 unclassified probably benign
R1067:Sucla2 UTSW 14 73560634 unclassified probably benign
R1136:Sucla2 UTSW 14 73560634 unclassified probably benign
R1162:Sucla2 UTSW 14 73560634 unclassified probably benign
R1311:Sucla2 UTSW 14 73560634 unclassified probably benign
R1312:Sucla2 UTSW 14 73560634 unclassified probably benign
R1345:Sucla2 UTSW 14 73560634 unclassified probably benign
R1416:Sucla2 UTSW 14 73560634 unclassified probably benign
R1677:Sucla2 UTSW 14 73592681 missense probably damaging 1.00
R1968:Sucla2 UTSW 14 73593679 missense probably damaging 0.99
R2126:Sucla2 UTSW 14 73592668 missense possibly damaging 0.71
R2484:Sucla2 UTSW 14 73581709 missense probably benign 0.12
R2566:Sucla2 UTSW 14 73552804 intron probably benign
R3706:Sucla2 UTSW 14 73591052 missense probably damaging 1.00
R4725:Sucla2 UTSW 14 73568989 missense possibly damaging 0.94
R5620:Sucla2 UTSW 14 73595396 missense probably damaging 0.99
R5650:Sucla2 UTSW 14 73591129 missense probably benign 0.38
R5947:Sucla2 UTSW 14 73592669 missense probably damaging 1.00
R6045:Sucla2 UTSW 14 73568964 nonsense probably null
R6236:Sucla2 UTSW 14 73593750 missense probably benign 0.39
R6693:Sucla2 UTSW 14 73568667 nonsense probably null
R7706:Sucla2 UTSW 14 73568993 missense probably damaging 1.00
R8786:Sucla2 UTSW 14 73560465 missense probably benign 0.13
Posted On2015-04-16