Incidental Mutation 'IGL01345:Gcat'
ID75031
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
Status
Chromosome15
Chromosomal Location79030901-79042531 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 79034065 bp
ZygosityHeterozygous
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

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: ENSMUST00000180086
SMART Domains Protein: ENSMUSP00000137309
Gene: ENSMUSG00000096210

DomainStartEndE-ValueType
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