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) question?
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

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 probably benign
Transcript: ENSMUST00000160507
SMART Domains Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110

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 probably benign
Transcript: ENSMUST00000162691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162723
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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