Incidental Mutation 'IGL02703:Sugct'
ID304195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sugct
Ensembl Gene ENSMUSG00000055137
Gene Namesuccinyl-CoA glutarate-CoA transferase
Synonyms5033411D12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.139) question?
Stock #IGL02703
Quality Score
Status
Chromosome13
Chromosomal Location16857472-17695553 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 17452540 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 243 (T243P)
Ref Sequence ENSEMBL: ENSMUSP00000070759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068545]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068545
AA Change: T243P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: T243P

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
Pfam:CoA_transf_3 39 406 3.4e-127 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 protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 A T 3: 37,064,241 Q60L probably damaging Het
AI593442 A C 9: 52,678,118 L53R probably damaging Het
Bmp2 T G 2: 133,561,404 S292A probably benign Het
Cd37 T C 7: 45,235,525 D186G probably benign Het
Cenpf T C 1: 189,659,758 I626V probably benign Het
Faim T A 9: 98,992,201 S49T probably benign Het
Glrb T G 3: 80,850,993 E371A probably benign Het
Kcne2 T C 16: 92,296,950 S122P possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Olfr1047 T A 2: 86,228,979 probably benign Het
Olfr1420 A G 19: 11,896,242 T74A possibly damaging Het
Olfr453 T G 6: 42,744,076 I13S possibly damaging Het
Pex1 C A 5: 3,615,120 H573Q probably benign Het
Plxna1 A G 6: 89,356,943 S235P probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc41a2 T C 10: 83,254,847 K491R probably damaging Het
Tnfaip3 G T 10: 19,007,032 D212E probably damaging Het
Trim68 A G 7: 102,684,079 V132A probably damaging Het
Other mutations in Sugct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00725:Sugct APN 13 17662772 missense probably damaging 1.00
IGL00917:Sugct APN 13 16857918 nonsense probably null
IGL02118:Sugct APN 13 17452520 nonsense probably null
IGL02267:Sugct APN 13 17644865 missense possibly damaging 0.94
IGL02285:Sugct APN 13 17672596 missense possibly damaging 0.51
IGL02412:Sugct APN 13 17662801 missense probably damaging 1.00
IGL02420:Sugct APN 13 17452468 missense probably damaging 1.00
IGL03098:Sugct UTSW 13 17671736 missense probably damaging 1.00
R0024:Sugct UTSW 13 16857869 missense probably benign 0.01
R0024:Sugct UTSW 13 16857869 missense probably benign 0.01
R0058:Sugct UTSW 13 17672581 missense probably damaging 1.00
R1472:Sugct UTSW 13 17452546 missense probably benign 0.26
R1709:Sugct UTSW 13 17672566 missense probably damaging 0.99
R1780:Sugct UTSW 13 17452454 splice site probably null
R2189:Sugct UTSW 13 17662266 missense probably benign 0.09
R4420:Sugct UTSW 13 17452545 missense probably damaging 1.00
R4763:Sugct UTSW 13 17662787 missense probably damaging 1.00
R5197:Sugct UTSW 13 17323276 missense probably damaging 0.99
R5310:Sugct UTSW 13 17252560 nonsense probably null
R5401:Sugct UTSW 13 16857870 missense probably damaging 1.00
R6695:Sugct UTSW 13 17323230 missense possibly damaging 0.94
R6962:Sugct UTSW 13 16858021 splice site probably null
R6991:Sugct UTSW 13 17554380 missense probably benign 0.23
R7135:Sugct UTSW 13 17302009 missense probably benign 0.00
R7141:Sugct UTSW 13 17644787 missense possibly damaging 0.76
R7367:Sugct UTSW 13 17644814 missense probably damaging 0.97
R7753:Sugct UTSW 13 17577519 missense possibly damaging 0.79
R8053:Sugct UTSW 13 17301969 missense probably damaging 1.00
R8234:Sugct UTSW 13 16857874 missense probably benign 0.01
R8336:Sugct UTSW 13 16857919 missense probably benign 0.30
R8351:Sugct UTSW 13 17252558 missense probably damaging 1.00
R8451:Sugct UTSW 13 17252558 missense probably damaging 1.00
Posted On2015-04-16