Incidental Mutation 'R5664:Gcat'
ID 444293
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 043307-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R5664 (G1)
Quality Score 182
Status Not validated
Chromosome 15
Chromosomal Location 78915074-78926731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78927273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 238 (L238Q)
Ref Sequence ENSEMBL: ENSMUSP00000060517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000058004] [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 damaging
Transcript: ENSMUST00000058004
AA Change: L238Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060517
Gene: ENSMUSG00000114755
AA Change: L238Q

DomainStartEndE-ValueType
low complexity region 11 23 N/A INTRINSIC
Pfam:7tm_4 24 307 2.9e-9 PFAM
Pfam:7tm_1 34 291 6.1e-47 PFAM
low complexity region 310 326 N/A INTRINSIC
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 noncoding transcript
Transcript: ENSMUST00000230803
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Map7 T A 10: 20,143,105 (GRCm39) V418E unknown Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably 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
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
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'- CTTGCTAAATGGCAGGCAAAG -3'
(R):5'- TCTGGGCTCCATACTCCAAC -3'

Sequencing Primer
(F):5'- GCCCTACCTAAGCTACTACGG -3'
(R):5'- GCTCGATGAAGGCGGTG -3'
Posted On 2016-11-09