Incidental Mutation 'IGL03268:Suclg2'
ID415151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Suclg2
Ensembl Gene ENSMUSG00000061838
Gene Namesuccinate-Coenzyme A ligase, GDP-forming, beta subunit
SynonymsD6Wsu120e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03268
Quality Score
Status
Chromosome6
Chromosomal Location95473009-95718800 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95569592 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 301 (D301G)
Ref Sequence ENSEMBL: ENSMUSP00000144827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079847] [ENSMUST00000204224]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079847
AA Change: D252G

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: D252G

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Pfam:ATP-grasp_5 33 263 1.1e-11 PFAM
Pfam:ATP-grasp_2 40 248 2.4e-79 PFAM
Pfam:Ligase_CoA 307 427 3.4e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203071
Predicted Effect probably damaging
Transcript: ENSMUST00000204224
AA Change: D301G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: D301G

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
Pfam:ATP-grasp_5 33 263 1.1e-11 PFAM
Pfam:ATP-grasp_2 40 248 2.4e-79 PFAM
Pfam:Ligase_CoA 307 427 3.4e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous knockout with a gene trap is embryonic lethal. Heterozygosity has a mild effect on mitochondrial respiration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,191 probably benign Het
Acvrl1 A T 15: 101,135,922 I162F possibly damaging Het
Adprhl1 A G 8: 13,246,170 probably benign Het
Anapc7 G A 5: 122,429,606 probably null Het
Ankrd13a T C 5: 114,792,235 L227P probably damaging Het
Anxa5 T C 3: 36,450,679 I245V probably benign Het
Arf1 A T 11: 59,212,837 V123E possibly damaging Het
Catsperg1 G A 7: 29,200,243 R338C probably damaging Het
Cc2d1a A C 8: 84,133,525 L855R probably damaging Het
Cdh18 G A 15: 23,366,867 A220T probably damaging Het
Cep350 T C 1: 155,953,549 H203R probably benign Het
Cep78 G T 19: 15,974,442 S333* probably null Het
Chrna2 T A 14: 66,150,946 probably benign Het
Dact1 T C 12: 71,317,483 V346A probably damaging Het
Dcn A G 10: 97,483,378 I6V probably benign Het
Dlg3 A G X: 100,809,887 Y600C probably damaging Het
Dmd A G X: 83,806,208 E1084G probably damaging Het
Epb41 A C 4: 131,928,495 D825E probably damaging Het
Galc T A 12: 98,222,593 probably benign Het
Hmcn1 T A 1: 150,772,510 D675V probably damaging Het
Igkv2-137 A G 6: 67,556,108 D85G probably benign Het
Kxd1 A G 8: 70,508,486 I78T probably damaging Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lama2 A T 10: 27,422,653 I149N probably damaging Het
Mbnl2 G T 14: 120,379,157 C61F probably damaging Het
Mcts1 T C X: 38,601,982 I22T possibly damaging Het
Olfr594 T G 7: 103,220,641 F308V probably benign Het
Olfr725 T C 14: 50,034,567 T279A probably damaging Het
Pde12 T A 14: 26,668,459 E365V probably benign Het
Prl8a2 A G 13: 27,353,955 K204R probably benign Het
Rnf25 A T 1: 74,599,058 probably benign Het
Rragb A G X: 153,140,497 D5G unknown Het
Rsrc2 T A 5: 123,740,727 K56* probably null Het
Scn5a T C 9: 119,521,231 Q859R probably damaging Het
Sept4 G A 11: 87,589,703 V388M probably damaging Het
Slc29a2 C T 19: 5,024,503 probably benign Het
Slc30a5 G A 13: 100,806,703 T549I probably damaging Het
Slc7a2 A G 8: 40,912,517 T462A probably benign Het
Spsb2 A G 6: 124,809,487 E61G probably damaging Het
Srr A G 11: 74,913,117 Y5H probably benign Het
Syt14 A G 1: 192,986,834 V37A probably benign Het
Syt9 A G 7: 107,436,405 N210D probably benign Het
Tenm3 T C 8: 48,235,523 D2343G probably damaging Het
Tma7 A G 9: 109,078,382 probably benign Het
Tor3a T C 1: 156,669,450 D175G probably damaging Het
Tpo G T 12: 30,094,965 A595D possibly damaging Het
Tpst2 T C 5: 112,308,225 V210A probably damaging Het
Uchl1 A T 5: 66,682,481 E122V probably benign Het
Vmn1r210 A T 13: 22,827,235 F294I probably benign Het
Other mutations in Suclg2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01892:Suclg2 APN 6 95579188 missense probably damaging 1.00
IGL01904:Suclg2 APN 6 95588934 splice site probably benign
IGL02245:Suclg2 APN 6 95595741 missense possibly damaging 0.54
PIT4576001:Suclg2 UTSW 6 95587018 missense possibly damaging 0.95
R0173:Suclg2 UTSW 6 95475173 splice site probably benign
R1241:Suclg2 UTSW 6 95497582 splice site probably benign
R1654:Suclg2 UTSW 6 95655551 missense probably damaging 1.00
R1712:Suclg2 UTSW 6 95587016 missense probably damaging 1.00
R1929:Suclg2 UTSW 6 95589094 splice site probably benign
R3735:Suclg2 UTSW 6 95497696 missense probably damaging 1.00
R3736:Suclg2 UTSW 6 95497696 missense probably damaging 1.00
R3801:Suclg2 UTSW 6 95497668 missense probably damaging 0.98
R3803:Suclg2 UTSW 6 95497668 missense probably damaging 0.98
R3804:Suclg2 UTSW 6 95497668 missense probably damaging 0.98
R3947:Suclg2 UTSW 6 95579238 splice site probably null
R4768:Suclg2 UTSW 6 95566488 missense probably damaging 0.99
R4953:Suclg2 UTSW 6 95566436 missense probably damaging 1.00
R6140:Suclg2 UTSW 6 95569721 missense probably damaging 1.00
R7105:Suclg2 UTSW 6 95595654 missense possibly damaging 0.92
R7335:Suclg2 UTSW 6 95566460 missense probably damaging 1.00
R7335:Suclg2 UTSW 6 95566463 missense probably damaging 1.00
R7861:Suclg2 UTSW 6 95594722 missense probably benign 0.00
R8220:Suclg2 UTSW 6 95588946 missense possibly damaging 0.92
R8283:Suclg2 UTSW 6 95497719 critical splice acceptor site probably null
R8726:Suclg2 UTSW 6 95655508 missense probably damaging 1.00
Posted On2016-08-02