Incidental Mutation 'R6868:Gcat'
ID 536046
Institutional Source Beutler Lab
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: 0.264) question?
Stock # R6868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 78915074-78926731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78919566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 177 (D177G)
Ref Sequence ENSEMBL: ENSMUSP00000131649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000171999] [ENSMUST00000180086]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000006544
AA Change: D177G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378
AA Change: D177G

DomainStartEndE-ValueType
Pfam:Aminotran_1_2 63 405 8.8e-72 PFAM
Pfam:Aminotran_5 77 236 1.1e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171999
AA Change: D177G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378
AA Change: D177G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik A T 16: 14,436,559 (GRCm39) N204I probably damaging Het
Aasdh C T 5: 77,039,527 (GRCm39) V261M probably damaging Het
Adgrg7 A G 16: 56,593,839 (GRCm39) F126L probably benign Het
Agxt2 T C 15: 10,373,855 (GRCm39) L87P probably damaging Het
Alcam G A 16: 52,088,748 (GRCm39) S554F probably damaging Het
Ambra1 T C 2: 91,747,878 (GRCm39) S1205P possibly damaging Het
Bst2 A C 8: 71,987,404 (GRCm39) V150G unknown Het
C3 T C 17: 57,511,029 (GRCm39) Y1659C possibly damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cdk4 T C 10: 126,900,870 (GRCm39) V174A probably benign Het
Ces2h T A 8: 105,745,055 (GRCm39) N396K probably benign Het
Cfap144 C T 11: 58,683,732 (GRCm39) D113N probably damaging Het
Chd7 T C 4: 8,811,501 (GRCm39) probably null Het
Cnih4 A G 1: 180,993,762 (GRCm39) I76V probably null Het
Csmd2 G A 4: 128,336,633 (GRCm39) V1404I probably benign Het
Ctrb1 T C 8: 112,416,035 (GRCm39) D53G probably benign Het
Cul9 C A 17: 46,833,109 (GRCm39) R1323L possibly damaging Het
Dchs1 A G 7: 105,412,710 (GRCm39) V1230A possibly damaging Het
Dgat2 T C 7: 98,807,513 (GRCm39) D219G probably benign Het
Dgkh T C 14: 78,862,293 (GRCm39) T225A probably damaging Het
Dock9 G T 14: 121,823,676 (GRCm39) A1412E probably benign Het
Dscam C T 16: 96,631,140 (GRCm39) V292M probably damaging Het
Fras1 T A 5: 96,830,237 (GRCm39) V1509E probably benign Het
Fryl T C 5: 73,226,146 (GRCm39) Q1839R probably damaging Het
Gss T C 2: 155,409,732 (GRCm39) T235A possibly damaging Het
Ints10 T A 8: 69,250,450 (GRCm39) M114K probably damaging Het
Ints5 T G 19: 8,874,750 (GRCm39) L903R probably damaging Het
Lipo2 G T 19: 33,725,862 (GRCm39) P130Q possibly damaging Het
Megf11 G A 9: 64,587,591 (GRCm39) C494Y probably damaging Het
Milr1 T C 11: 106,654,747 (GRCm39) Y162H probably damaging Het
Mrc2 T A 11: 105,219,244 (GRCm39) I278N probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Myh15 G A 16: 48,889,766 (GRCm39) C119Y probably damaging Het
Nap1l1 G A 10: 111,330,669 (GRCm39) G358D probably damaging Het
Nav3 T C 10: 109,529,027 (GRCm39) I2178V possibly damaging Het
Nkx2-5 T C 17: 27,060,268 (GRCm39) E21G probably damaging Het
Nos2 C T 11: 78,848,332 (GRCm39) R967C probably benign Het
Or6c215 T C 10: 129,638,037 (GRCm39) D119G probably damaging Het
Parp10 T C 15: 76,127,306 (GRCm39) R44G probably damaging Het
Pced1b A G 15: 97,282,222 (GRCm39) H87R probably damaging Het
Ppfia3 T A 7: 45,003,036 (GRCm39) L524F probably damaging Het
Ppp1r12b T C 1: 134,814,176 (GRCm39) T376A probably benign Het
Ppp4r4 T C 12: 103,557,111 (GRCm39) L449P probably damaging Het
Prkd1 T C 12: 50,472,320 (GRCm39) R198G probably damaging Het
Pth2r C A 1: 65,427,638 (GRCm39) A437E probably benign Het
Ptprh A T 7: 4,604,864 (GRCm39) I60N probably benign Het
Pxmp2 C T 5: 110,433,846 (GRCm39) R9Q probably damaging Het
Scarb2 T C 5: 92,633,168 (GRCm39) K55E probably benign Het
Slc18b1 T C 10: 23,680,132 (GRCm39) V109A possibly damaging Het
Slx4ip T A 2: 136,842,130 (GRCm39) D18E probably damaging Het
Stk40 A G 4: 126,017,607 (GRCm39) R45G probably damaging Het
Tbxas1 A T 6: 39,061,240 (GRCm39) Q513L probably damaging Het
Tcf4 A T 18: 69,790,721 (GRCm39) probably null Het
Tmc6 T A 11: 117,665,143 (GRCm39) I377F probably benign Het
Tmem131l T C 3: 83,868,938 (GRCm39) I146V probably damaging Het
Trac T A 14: 54,458,049 (GRCm39) probably benign Het
Trpm7 T C 2: 126,679,334 (GRCm39) D409G probably damaging Het
Usp39 A T 6: 72,314,734 (GRCm39) V224E possibly damaging Het
Vmn1r184 A C 7: 25,966,727 (GRCm39) M158L probably benign Het
Vmn2r120 T A 17: 57,852,218 (GRCm39) I33L probably benign Het
Other mutations in Gcat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01345:Gcat APN 15 78,918,265 (GRCm39) splice site probably benign
IGL03238:Gcat APN 15 78,920,210 (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
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
Predicted Primers PCR Primer
(F):5'- AGAGGTAGAGTTTTGCCTCGAG -3'
(R):5'- ACAGGTCCTAGACACACCTG -3'

Sequencing Primer
(F):5'- GCCTCGAGGGGAGTTATGAG -3'
(R):5'- GCTTAAAAGATGCTTCCTGACCTCAG -3'
Posted On 2018-10-18