Incidental Mutation 'IGL00973:Sucla2'
ID 28991
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 # IGL00973
Quality Score
Status
Chromosome 14
Chromosomal Location 73790226-73833584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73828347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 318 (I318T)
Ref Sequence ENSEMBL: ENSMUSP00000123765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022706] [ENSMUST00000160507]
AlphaFold Q9Z2I9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022706
AA Change: I318T

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: I318T

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 possibly damaging
Transcript: ENSMUST00000160507
AA Change: I318T

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: I318T

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp10a G T 7: 58,457,218 (GRCm39) D906Y probably damaging Het
Cdh18 A G 15: 23,173,882 (GRCm39) K32R probably damaging Het
Chtf18 G A 17: 25,941,090 (GRCm39) A636V probably benign Het
Clcn6 A G 4: 148,098,245 (GRCm39) probably benign Het
Dspp A C 5: 104,324,758 (GRCm39) K374Q possibly damaging Het
Ehmt2 C T 17: 35,129,791 (GRCm39) R962C probably damaging Het
Frrs1l T C 4: 56,972,369 (GRCm39) K111E probably damaging Het
Galnt5 A G 2: 57,888,951 (GRCm39) T184A probably benign Het
Glud1 C T 14: 34,041,899 (GRCm39) T169I probably damaging Het
Hinfp T G 9: 44,209,436 (GRCm39) D283A probably benign Het
Hmcn2 C T 2: 31,273,833 (GRCm39) probably benign Het
Hs6st3 A T 14: 120,106,819 (GRCm39) Y409F possibly damaging Het
Ighv15-2 A T 12: 114,528,490 (GRCm39) V20D possibly damaging Het
Kif17 A G 4: 138,002,368 (GRCm39) T91A probably benign Het
Mical3 T C 6: 120,911,885 (GRCm39) probably benign Het
Myo1e C T 9: 70,246,069 (GRCm39) T420M probably damaging Het
Or8b12c C A 9: 37,716,078 (GRCm39) S290R probably damaging Het
Ovgp1 T A 3: 105,888,593 (GRCm39) Y316* probably null Het
Plekha1 T A 7: 130,512,743 (GRCm39) V313D probably damaging Het
Polr1e C A 4: 45,031,364 (GRCm39) probably benign Het
Prdm15 A T 16: 97,607,367 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,669,101 (GRCm39) M250L probably benign Het
Rtn1 A T 12: 72,455,285 (GRCm39) L14Q probably benign Het
Sec24a T C 11: 51,620,404 (GRCm39) probably null Het
Sox7 A G 14: 64,185,636 (GRCm39) H224R probably benign Het
Styxl2 T C 1: 165,927,027 (GRCm39) S862G probably benign Het
Tubb4b-ps1 A G 5: 7,229,408 (GRCm39) probably benign Het
Ube2o T A 11: 116,432,031 (GRCm39) K940M probably damaging Het
Usp20 A C 2: 30,894,962 (GRCm39) N149T probably damaging Het
Utp6 C T 11: 79,846,531 (GRCm39) W150* probably null Het
Wdr27 A C 17: 15,134,140 (GRCm39) H475Q probably benign Het
Other mutations in Sucla2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17