Incidental Mutation 'IGL01345:Gcat'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcat
Ensembl Gene ENSMUSG00000116378
Gene Name
Synonymsaminoacetone synthase, Kbl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL01345
Quality Score
Chromosomal Location79030901-79042531 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 79034065 bp
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000171999] [ENSMUST00000180086]
Predicted Effect probably benign
Transcript: ENSMUST00000006544
SMART Domains Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378

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

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: ENSMUST00000180086
SMART Domains Protein: ENSMUSP00000137309
Gene: ENSMUSG00000096210

H15 22 87 2.82e-27 SMART
low complexity region 108 194 N/A INTRINSIC
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,857,100 probably benign Het
Armc4 T C 18: 7,266,947 K385E probably benign Het
Atr G A 9: 95,940,949 C2323Y probably damaging Het
Ccdc107 T A 4: 43,493,453 L8* probably null Het
Erc1 T A 6: 119,761,263 K240* probably null Het
Gm4847 A T 1: 166,634,972 D316E probably damaging Het
Gm8267 A G 14: 44,724,955 S3P probably damaging Het
Gpr26 T C 7: 131,967,432 F169L possibly damaging Het
Itgal T A 7: 127,300,956 F129I possibly damaging Het
Kcnk1 T A 8: 126,025,407 C251S possibly damaging Het
Nfkb1 T C 3: 135,594,981 D608G probably damaging Het
Nlrp2 T C 7: 5,317,492 E882G probably benign Het
Pik3r5 G A 11: 68,496,194 D854N possibly damaging Het
Rnf220 G A 4: 117,273,270 R253* probably null Het
Slc22a15 A C 3: 101,880,176 S259R probably benign Het
Tln1 G A 4: 43,536,281 L2004F probably damaging Het
Tlnrd1 A G 7: 83,882,846 S126P probably damaging Het
Ulk4 T C 9: 121,208,162 T587A possibly damaging Het
Vasn A G 16: 4,648,368 I60V probably benign Het
Vps33a G T 5: 123,572,943 N13K probably benign Het
Zmiz2 A G 11: 6,405,015 D862G possibly damaging Het
Zswim3 T A 2: 164,820,137 L179H probably damaging Het
Other mutations in Gcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03238:Gcat APN 15 79036010 splice site probably benign
R1440:Gcat UTSW 15 79033994 missense probably null 1.00
R1696:Gcat UTSW 15 79035795 missense probably damaging 0.98
R2336:Gcat UTSW 15 79030980 missense probably benign 0.01
R3418:Gcat UTSW 15 79042097 missense possibly damaging 0.89
R3890:Gcat UTSW 15 79037176 missense probably damaging 1.00
R3905:Gcat UTSW 15 79043331 missense possibly damaging 0.74
R4653:Gcat UTSW 15 79035287 missense probably damaging 1.00
R4814:Gcat UTSW 15 79031122 critical splice donor site probably null
R5121:Gcat UTSW 15 79035282 missense probably damaging 1.00
R5454:Gcat UTSW 15 79036410 missense probably benign
R5550:Gcat UTSW 15 79042211 missense probably benign 0.30
R5664:Gcat UTSW 15 79043073 missense probably damaging 1.00
R6022:Gcat UTSW 15 79042278 missense probably damaging 0.98
R6419:Gcat UTSW 15 79036064 missense probably damaging 1.00
R6868:Gcat UTSW 15 79035366 missense probably damaging 0.99
R7243:Gcat UTSW 15 79036863 missense possibly damaging 0.79
Posted On2013-10-07