Incidental Mutation 'IGL02420:Sugct'
ID292615
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: 0.124) question?
Stock #IGL02420
Quality Score
Status
Chromosome13
Chromosomal Location16857472-17695553 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 17452468 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 267 (V267F)
Ref Sequence ENSEMBL: ENSMUSP00000070759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068545]
Predicted Effect probably damaging
Transcript: ENSMUST00000068545
AA Change: V267F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: V267F

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A G 17: 56,880,494 N136S probably damaging Het
3110062M04Rik T C 6: 34,874,469 Y150C probably damaging Het
Adcy8 A G 15: 64,787,454 S496P probably damaging Het
Agbl3 T A 6: 34,785,307 S81T possibly damaging Het
Apobec1 A T 6: 122,581,572 Y75N probably benign Het
Asic2 A G 11: 80,881,653 L517P probably benign Het
Atp8a1 A G 5: 67,682,783 S752P probably damaging Het
Blm T C 7: 80,496,006 Y775C probably damaging Het
C1qtnf5 T C 9: 44,108,604 I175T probably benign Het
Ccdc81 G A 7: 89,875,738 T545I probably benign Het
Ccdc88b T C 19: 6,856,949 E174G probably damaging Het
Chl1 G A 6: 103,715,369 V1066M probably damaging Het
Cntn6 T A 6: 104,846,142 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cysrt1 T C 2: 25,239,348 I51V probably benign Het
Dnah7a T C 1: 53,686,543 N69S probably benign Het
Fam83d T C 2: 158,785,735 L448P probably benign Het
Gm9631 G A 11: 121,943,652 Het
Hmcn1 T C 1: 150,722,424 Y1709C probably damaging Het
Inppl1 G A 7: 101,832,319 probably benign Het
Iqcc T C 4: 129,616,955 T256A probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Lyz1 A T 10: 117,288,630 C134S probably damaging Het
Mpzl3 T C 9: 45,066,517 I141T possibly damaging Het
Mterf1a T C 5: 3,891,047 N274D probably damaging Het
Myo18a T A 11: 77,818,693 V543D possibly damaging Het
Myo18b A T 5: 112,827,986 D1332E possibly damaging Het
Olfr458 A G 6: 42,460,176 V281A probably benign Het
Pcdh15 A T 10: 74,303,106 D333V probably damaging Het
Plekha7 A G 7: 116,158,234 Y494H probably damaging Het
Plekhg1 A G 10: 3,964,106 N1276S probably damaging Het
Ppig T C 2: 69,732,227 V5A probably benign Het
Prag1 A T 8: 36,147,426 probably benign Het
Prom1 T C 5: 44,063,154 N84S probably benign Het
Ptprh T A 7: 4,580,930 Y221F probably damaging Het
Qsox2 A G 2: 26,220,719 Y162H probably benign Het
Rab2a C T 4: 8,572,553 T49M possibly damaging Het
Ring1 A G 17: 34,023,148 S96P possibly damaging Het
Ripk3 A G 14: 55,785,234 F411S probably benign Het
Rock1 T C 18: 10,070,619 probably null Het
Rtn4rl1 A G 11: 75,265,819 N359S probably damaging Het
Ssfa2 T C 2: 79,635,642 S35P probably damaging Het
Sufu A G 19: 46,425,042 T76A probably damaging Het
Tcf4 A T 18: 69,564,139 R29W probably damaging Het
Tnfsf18 A T 1: 161,503,589 I103L probably benign Het
Vwf A G 6: 125,677,916 E2525G probably benign 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
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
Posted On2015-04-16