Incidental Mutation 'R1345:Sucla2'
ID 156476
Institutional Source Beutler Lab
Gene Symbol Sucla2
Ensembl Gene ENSMUSG00000022110
Gene Name succinate-Coenzyme A ligase, ADP-forming, beta subunit
Synonyms 4930547K18Rik
MMRRC Submission 039410-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # R1345 (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: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,635,152 (GRCm39) V129I probably damaging Het
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Cypt4 A G 9: 24,536,515 (GRCm39) T2A possibly damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fam151a A G 4: 106,599,491 (GRCm39) K142E probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Or6c76b T C 10: 129,692,759 (GRCm39) I124T probably damaging Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign 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
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P 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
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
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 2014-02-11