Incidental Mutation 'R4653:Gcat'
ID 351496
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
MMRRC Submission 041913-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R4653 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78915074-78926731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78919487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 151 (S151P)
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: S151P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378
AA Change: S151P

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: S151P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378
AA Change: S151P

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 unknown
Transcript: ENSMUST00000229276
AA Change: S93P
Meta Mutation Damage Score 0.9335 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,264 (GRCm39) T351A probably benign Het
3930402G23Rik A T 8: 10,976,075 (GRCm39) noncoding transcript Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Abca4 G T 3: 121,932,230 (GRCm39) E295* probably null Het
Abi3 T C 11: 95,723,637 (GRCm39) I215V probably benign Het
Adhfe1 G T 1: 9,620,803 (GRCm39) probably benign Het
Akr1a1 A G 4: 116,495,156 (GRCm39) probably benign Het
Ank T A 15: 27,590,447 (GRCm39) W344R probably null Het
Cast A G 13: 74,894,133 (GRCm39) S171P probably benign Het
Ccdc39 A G 3: 33,873,955 (GRCm39) probably null Het
Cd180 T A 13: 102,841,416 (GRCm39) L154H probably damaging Het
Cnp A T 11: 100,467,342 (GRCm39) D95V probably benign Het
Cul1 T C 6: 47,461,897 (GRCm39) I20T probably damaging Het
Dnah6 T C 6: 73,050,440 (GRCm39) K3042R possibly damaging Het
Dpy19l1 A C 9: 24,393,350 (GRCm39) S140A possibly damaging Het
Dpys C A 15: 39,656,642 (GRCm39) R475L probably damaging Het
Dync1i2 A G 2: 71,078,199 (GRCm39) N276S probably damaging Het
Ext2 T C 2: 93,526,504 (GRCm39) S711G probably benign Het
Fancm A G 12: 65,129,828 (GRCm39) Y223C probably damaging Het
Folh1 C A 7: 86,393,633 (GRCm39) G360* probably null Het
Garin5b T C 7: 4,761,054 (GRCm39) R553G possibly damaging Het
Gcm2 A T 13: 41,256,317 (GRCm39) D477E probably benign Het
Git1 A G 11: 77,395,869 (GRCm39) N468S possibly damaging Het
Gtf3c1 T C 7: 125,273,272 (GRCm39) I622V probably benign Het
Hsd17b13 G A 5: 104,113,702 (GRCm39) L251F probably damaging Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Llgl1 A G 11: 60,599,477 (GRCm39) D486G possibly damaging Het
Lrrk1 T C 7: 65,922,801 (GRCm39) I1366V probably benign Het
Ly9 G T 1: 171,421,597 (GRCm39) H441Q probably benign Het
Mtcl2 A G 2: 156,882,511 (GRCm39) F514L probably damaging Het
Myo15b G A 11: 115,770,813 (GRCm39) probably null Het
Nomo1 G T 7: 45,711,237 (GRCm39) A639S probably benign Het
P3h2 T C 16: 25,924,027 (GRCm39) D136G probably damaging Het
Pde4dip A T 3: 97,674,654 (GRCm39) D87E probably damaging Het
Pdpk1 A T 17: 24,325,871 (GRCm39) D108E probably benign Het
Pex26 C T 6: 121,167,084 (GRCm39) S231L probably damaging Het
Prpf38b G A 3: 108,811,408 (GRCm39) probably benign Het
Prpf4b A T 13: 35,083,954 (GRCm39) M908L probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Ryr3 T A 2: 112,483,108 (GRCm39) N4213I probably damaging Het
Slc7a14 A G 3: 31,311,831 (GRCm39) V63A probably damaging Het
Sppl2a C T 2: 126,762,233 (GRCm39) probably null Het
Sspo T A 6: 48,455,580 (GRCm39) W3077R probably damaging Het
Stag1 T A 9: 100,678,769 (GRCm39) M230K probably damaging Het
Sv2a T C 3: 96,098,078 (GRCm39) probably null Het
Themis2 A G 4: 132,510,287 (GRCm39) S638P probably benign Het
Trabd A G 15: 88,970,042 (GRCm39) Y346C probably damaging Het
Trim38 A T 13: 23,966,952 (GRCm39) D133V probably damaging Het
Trmt1l G A 1: 151,315,320 (GRCm39) V16I probably benign Het
Ube2b A G 11: 51,886,199 (GRCm39) probably null Het
Usp13 A T 3: 32,892,073 (GRCm39) Q84L probably damaging Het
Vmn1r172 G T 7: 23,359,997 (GRCm39) G294V probably damaging Het
Vmn2r59 A T 7: 41,693,228 (GRCm39) H457Q probably benign Het
Vmn2r63 A G 7: 42,553,114 (GRCm39) I714T possibly damaging Het
Vps8 T C 16: 21,318,960 (GRCm39) Y602H probably damaging Het
Zbp1 G A 2: 173,049,608 (GRCm39) P385S possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- GCATCTGGGAGAGCTAACCTATG -3'
(R):5'- TCCAGCTCTTTGGAAAAGGGG -3'

Sequencing Primer
(F):5'- TCTGGGAGAGCTAACCTATGTAAAC -3'
(R):5'- AAAGGGGTAATGCTTCCAAGTTTCG -3'
Posted On 2015-10-08