Incidental Mutation 'IGL03238:Gcat'
ID 414194
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcat
Ensembl Gene ENSMUSG00000116378
Gene Name glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase)
Synonyms Kbl, aminoacetone synthase
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # IGL03238
Quality Score
Status
Chromosome 15
Chromosomal Location 78915074-78926731 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 78920210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000171999]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006544
SMART Domains Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 63 405 8.8e-72 PFAM
Pfam:Aminotran_5 77 236 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171999
SMART Domains Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 63 379 2e-64 PFAM
Pfam:Aminotran_5 77 236 4.7e-8 PFAM
Pfam:Cys_Met_Meta_PP 93 240 2.4e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229276
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,339 (GRCm39) T285P probably benign Het
Abcf1 T C 17: 36,274,215 (GRCm39) K186E probably damaging Het
Adam3 T C 8: 25,177,981 (GRCm39) probably null Het
Art1 T C 7: 101,759,956 (GRCm39) V85A possibly damaging Het
Ccdc110 A G 8: 46,394,859 (GRCm39) H250R probably benign Het
Cyp3a13 T A 5: 137,897,151 (GRCm39) I388F probably damaging Het
Dnah11 C T 12: 118,073,633 (GRCm39) V1425M probably damaging Het
Donson G A 16: 91,478,134 (GRCm39) Q22* probably null Het
Eif2b2 A G 12: 85,270,173 (GRCm39) T238A probably benign Het
Emc2 T A 15: 43,371,249 (GRCm39) probably null Het
Fkbp4 A T 6: 128,411,720 (GRCm39) V123E probably damaging Het
Frem2 A T 3: 53,563,682 (GRCm39) M275K possibly damaging Het
Gemin2 G A 12: 59,063,748 (GRCm39) probably benign Het
Ilf3 T A 9: 21,303,646 (GRCm39) V169E probably damaging Het
Klra17 T C 6: 129,845,773 (GRCm39) H147R probably benign Het
Lama5 A G 2: 179,830,367 (GRCm39) I1880T probably benign Het
Lzts1 T C 8: 69,591,446 (GRCm39) D234G probably damaging Het
Map3k4 G A 17: 12,490,045 (GRCm39) P462L probably benign Het
Marchf6 C A 15: 31,462,087 (GRCm39) probably benign Het
Mcm6 A T 1: 128,283,257 (GRCm39) F83I probably benign Het
Mtpn A G 6: 35,499,708 (GRCm39) L32P probably damaging Het
Mybpc3 A T 2: 90,962,004 (GRCm39) I841F probably damaging Het
Ndst2 G T 14: 20,778,572 (GRCm39) H399N probably damaging Het
Npat G T 9: 53,481,726 (GRCm39) V1145F probably damaging Het
Or51b6 G A 7: 103,555,717 (GRCm39) A21T probably benign Het
P2ry1 T A 3: 60,911,916 (GRCm39) S352T probably damaging Het
Plaa T C 4: 94,472,133 (GRCm39) T326A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Prb1b T A 6: 132,289,308 (GRCm39) Q172L unknown Het
Setd1a C T 7: 127,384,718 (GRCm39) T523I possibly damaging Het
Sgcz C T 8: 38,030,294 (GRCm39) probably null Het
Slc12a2 T C 18: 58,047,306 (GRCm39) Y740H possibly damaging Het
Stab2 A G 10: 86,690,985 (GRCm39) C745R probably damaging Het
Tmem101 A T 11: 102,046,611 (GRCm39) L86Q probably damaging Het
Tmtc3 A C 10: 100,313,702 (GRCm39) F57V probably damaging Het
Vps50 A G 6: 3,594,771 (GRCm39) K778R possibly damaging Het
Washc5 G A 15: 59,218,691 (GRCm39) T692M probably damaging Het
Zc3hav1 A T 6: 38,309,685 (GRCm39) V379D probably damaging Het
Zfp142 G T 1: 74,615,437 (GRCm39) R459S probably benign Het
Zfp512b A G 2: 181,231,553 (GRCm39) V199A probably damaging Het
Other mutations in Gcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Gcat APN 15 78,918,265 (GRCm39) splice site probably benign
G1Funyon:Gcat UTSW 15 78,920,089 (GRCm39) missense possibly damaging 0.58
R1440:Gcat UTSW 15 78,918,194 (GRCm39) missense probably null 1.00
R1696:Gcat UTSW 15 78,919,995 (GRCm39) missense probably damaging 0.98
R2336:Gcat UTSW 15 78,915,180 (GRCm39) missense probably benign 0.01
R3418:Gcat UTSW 15 78,926,297 (GRCm39) missense possibly damaging 0.89
R3890:Gcat UTSW 15 78,921,376 (GRCm39) missense probably damaging 1.00
R3905:Gcat UTSW 15 78,927,531 (GRCm39) missense possibly damaging 0.74
R4653:Gcat UTSW 15 78,919,487 (GRCm39) missense probably damaging 1.00
R4814:Gcat UTSW 15 78,915,322 (GRCm39) critical splice donor site probably null
R5121:Gcat UTSW 15 78,919,482 (GRCm39) missense probably damaging 1.00
R5454:Gcat UTSW 15 78,920,610 (GRCm39) missense probably benign
R5550:Gcat UTSW 15 78,926,411 (GRCm39) missense probably benign 0.30
R5664:Gcat UTSW 15 78,927,273 (GRCm39) missense probably damaging 1.00
R6022:Gcat UTSW 15 78,926,478 (GRCm39) missense probably damaging 0.98
R6419:Gcat UTSW 15 78,920,264 (GRCm39) missense probably damaging 1.00
R6868:Gcat UTSW 15 78,919,566 (GRCm39) missense probably damaging 0.99
R7243:Gcat UTSW 15 78,921,063 (GRCm39) missense possibly damaging 0.79
R7976:Gcat UTSW 15 78,919,188 (GRCm39) missense probably damaging 0.98
R8301:Gcat UTSW 15 78,920,089 (GRCm39) missense possibly damaging 0.58
Posted On 2016-08-02