Incidental Mutation 'IGL02657:Suclg1'
ID 302379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Suclg1
Ensembl Gene ENSMUSG00000052738
Gene Name succinate-CoA ligase, GDP-forming, alpha subunit
Synonyms Sucla1, 1500000I01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02657
Quality Score
Chromosome 6
Chromosomal Location 73225488-73253890 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73237504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 83 (V83E)
Ref Sequence ENSEMBL: ENSMUSP00000065113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064740] [ENSMUST00000123159] [ENSMUST00000203632]
AlphaFold Q9WUM5
Predicted Effect probably damaging
Transcript: ENSMUST00000064740
AA Change: V83E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: V83E

low complexity region 1 29 N/A INTRINSIC
CoA_binding 51 147 6.28e-35 SMART
Pfam:Succ_CoA_lig 193 336 6.7e-11 PFAM
Pfam:Ligase_CoA 199 324 9.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173409
Predicted Effect probably benign
Transcript: ENSMUST00000203632
SMART Domains Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738

low complexity region 1 28 N/A INTRINSIC
PDB:1EUD|A 37 67 2e-12 PDB
SCOP:d1euca1 41 68 6e-13 SMART
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 the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Suclg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01864:Suclg1 APN 6 73,241,280 (GRCm39) intron probably benign
IGL03250:Suclg1 APN 6 73,247,975 (GRCm39) missense probably benign 0.04
IGL03306:Suclg1 APN 6 73,247,975 (GRCm39) missense probably benign 0.04
R0012:Suclg1 UTSW 6 73,247,980 (GRCm39) missense possibly damaging 0.66
R0012:Suclg1 UTSW 6 73,247,980 (GRCm39) missense possibly damaging 0.66
R0038:Suclg1 UTSW 6 73,237,486 (GRCm39) missense probably benign 0.26
R0038:Suclg1 UTSW 6 73,237,486 (GRCm39) missense probably benign 0.26
R0379:Suclg1 UTSW 6 73,233,211 (GRCm39) missense possibly damaging 0.89
R0969:Suclg1 UTSW 6 73,248,099 (GRCm39) missense probably benign 0.33
R1123:Suclg1 UTSW 6 73,233,210 (GRCm39) missense probably benign 0.02
R2089:Suclg1 UTSW 6 73,241,259 (GRCm39) missense probably benign 0.00
R2091:Suclg1 UTSW 6 73,241,259 (GRCm39) missense probably benign 0.00
R2091:Suclg1 UTSW 6 73,241,259 (GRCm39) missense probably benign 0.00
R5083:Suclg1 UTSW 6 73,240,963 (GRCm39) missense probably benign
R6176:Suclg1 UTSW 6 73,252,326 (GRCm39) missense probably damaging 1.00
R6313:Suclg1 UTSW 6 73,233,192 (GRCm39) missense probably damaging 0.97
R6338:Suclg1 UTSW 6 73,241,229 (GRCm39) missense probably damaging 1.00
R7231:Suclg1 UTSW 6 73,240,954 (GRCm39) missense probably benign 0.00
R7246:Suclg1 UTSW 6 73,253,696 (GRCm39) missense unknown
R7250:Suclg1 UTSW 6 73,248,074 (GRCm39) missense probably benign 0.00
R7524:Suclg1 UTSW 6 73,240,824 (GRCm39) missense probably damaging 0.99
R7829:Suclg1 UTSW 6 73,252,226 (GRCm39) splice site probably null
R8166:Suclg1 UTSW 6 73,237,555 (GRCm39) missense probably damaging 1.00
R8721:Suclg1 UTSW 6 73,246,362 (GRCm39) missense probably damaging 1.00
R8735:Suclg1 UTSW 6 73,253,729 (GRCm39) missense unknown
R8799:Suclg1 UTSW 6 73,248,091 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16