Incidental Mutation 'IGL01539:Sucla2'
ID 90111
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) question?
Stock # IGL01539
Quality Score
Status
Chromosome 14
Chromosomal Location 73790226-73833584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73828561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 359 (E359G)
Ref Sequence ENSEMBL: ENSMUSP00000123765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022706] [ENSMUST00000160507]
AlphaFold Q9Z2I9
Predicted Effect probably damaging
Transcript: ENSMUST00000022706
AA Change: E359G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: E359G

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: E359G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: E359G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,631,918 (GRCm39) M196L probably benign Het
Cyp4a14 T C 4: 115,344,374 (GRCm39) N497S possibly damaging Het
Eif3b T C 5: 140,416,008 (GRCm39) probably benign Het
Grin2c T C 11: 115,140,932 (GRCm39) Q1062R probably benign Het
Ina A G 19: 47,003,903 (GRCm39) E237G probably damaging Het
Lmx1b T C 2: 33,529,510 (GRCm39) D83G possibly damaging Het
Macf1 A G 4: 123,289,701 (GRCm39) probably benign Het
Muc6 T A 7: 141,236,306 (GRCm39) M406L probably benign Het
Myo15b T C 11: 115,754,299 (GRCm39) I933T probably benign Het
Or4c121 A G 2: 89,023,836 (GRCm39) F181L possibly damaging Het
Or6c204 T C 10: 129,022,804 (GRCm39) N162S probably benign Het
Pde1b A T 15: 103,433,772 (GRCm39) probably benign Het
Rab29 G A 1: 131,798,445 (GRCm39) R75Q probably damaging Het
Scn10a A T 9: 119,467,764 (GRCm39) I792N probably damaging Het
Serpinb6a A T 13: 34,114,117 (GRCm39) V70D probably damaging Het
Slco1a7 A G 6: 141,673,333 (GRCm39) S402P possibly damaging Het
Spart A G 3: 55,024,723 (GRCm39) D106G possibly damaging Het
Sycp2 T C 2: 178,016,488 (GRCm39) Y658C probably damaging Het
Tenm2 T A 11: 35,997,654 (GRCm39) T811S possibly damaging Het
Trim66 C A 7: 109,054,273 (GRCm39) M1312I probably benign Het
Tspan18 A G 2: 93,041,198 (GRCm39) S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 (GRCm39) probably benign Het
Ubr1 A C 2: 120,756,494 (GRCm39) V711G possibly damaging Het
Veph1 T C 3: 66,065,496 (GRCm39) T524A probably benign Het
Vmn1r222 A T 13: 23,417,059 (GRCm39) F51L probably benign Het
Vwf G T 6: 125,567,225 (GRCm39) V338L possibly damaging Het
Zfp770 G T 2: 114,027,574 (GRCm39) A165E probably damaging Het
Other mutations in Sucla2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Sucla2 APN 14 73,828,347 (GRCm39) missense possibly damaging 0.81
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 2013-12-03