Incidental Mutation 'IGL00725:Sugct'
ID13260
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: 0.153) question?
Stock #IGL00725
Quality Score
Status
Chromosome13
Chromosomal Location16857472-17695553 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17662772 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 91 (S91R)
Ref Sequence ENSEMBL: ENSMUSP00000070759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068545] [ENSMUST00000221598]
Predicted Effect probably damaging
Transcript: ENSMUST00000068545
AA Change: S91R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: S91R

DomainStartEndE-ValueType
low complexity region 12 28 N/A INTRINSIC
Pfam:CoA_transf_3 39 406 3.4e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221598
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11b G T 3: 35,827,073 R593L probably damaging Het
Axl A T 7: 25,764,483 D566E probably damaging Het
Ccp110 A G 7: 118,730,723 D912G probably damaging Het
Clca3b C T 3: 144,839,162 D355N probably benign Het
Clock A C 5: 76,254,413 Y133* probably null Het
Cntn4 T A 6: 106,662,655 V582E probably damaging Het
Ddx1 A G 12: 13,227,459 probably benign Het
Ddx1 A G 12: 13,245,690 L43P probably damaging Het
Dnase2b G A 3: 146,596,378 T8I probably benign Het
Ermard T C 17: 14,988,066 probably benign Het
Gtf3c2 A G 5: 31,174,408 V22A probably damaging Het
Ifi208 T C 1: 173,682,861 I194T possibly damaging Het
Krt9 T A 11: 100,190,006 E340V probably damaging Het
Nupl1 G T 14: 60,243,440 T152K possibly damaging Het
Otog A G 7: 46,274,092 S1050G probably damaging Het
Prkdc A G 16: 15,816,639 N3580S probably benign Het
Rsbn1 T C 3: 103,928,821 S392P probably damaging Het
Sestd1 T C 2: 77,188,522 I647V probably benign Het
Syne1 A G 10: 5,344,922 Y1227S possibly damaging Het
Synpo C T 18: 60,604,077 V27I probably damaging Het
Tcp11l2 T C 10: 84,594,710 I233T possibly damaging Het
Vwde A G 6: 13,187,412 V692A probably benign Het
Other mutations in Sugct
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02703:Sugct APN 13 17452540 missense possibly damaging 0.94
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
Posted On2012-12-06