Incidental Mutation 'IGL00766:Glyat'
ID12637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glyat
Ensembl Gene ENSMUSG00000063683
Gene Nameglycine-N-acyltransferase
SynonymsA330009E03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00766
Quality Score
Status
Chromosome19
Chromosomal Location12633308-12653911 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 12651262 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 140 (D140E)
Ref Sequence ENSEMBL: ENSMUSP00000114002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044976] [ENSMUST00000119960]
Predicted Effect probably benign
Transcript: ENSMUST00000044976
AA Change: D174E

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: D174E

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 206 1.9e-90 PFAM
Pfam:Gly_acyl_tr_C 207 295 2.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119960
AA Change: D140E

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: D140E

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 172 1.2e-91 PFAM
Pfam:Gly_acyl_tr_C 173 261 3.6e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157069
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycine-N-acyltransferase protein conjugates glycine with acyl-CoA substrates in the mitochondria. The protein is thought to be important in the detoxification of endogenous and xenobiotic acyl-CoA's. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,252,164 Q2829L unknown Het
Adgrl3 T A 5: 81,794,568 D1379E probably damaging Het
Akap13 A G 7: 75,704,512 T1794A probably damaging Het
Ano2 A T 6: 126,013,253 D779V probably damaging Het
Ap3b1 G T 13: 94,542,884 probably benign Het
Arfgef1 A G 1: 10,199,787 V379A probably benign Het
Arhgef10 A G 8: 14,975,006 Y398C probably damaging Het
Arid2 C T 15: 96,370,405 R800C probably benign Het
Ccdc88a T A 11: 29,501,046 H306Q probably damaging Het
Cckar C A 5: 53,700,036 R344L probably damaging Het
Egfem1 A G 3: 29,657,153 I237V possibly damaging Het
Erlec1 T A 11: 30,950,623 K143* probably null Het
Gm4907 C A X: 23,906,599 A113E probably benign Het
Grhl2 T C 15: 37,336,301 F50L probably damaging Het
Havcr2 T C 11: 46,469,546 V151A probably damaging Het
Herc1 A G 9: 66,450,741 Y2368C probably damaging Het
Ift80 A T 3: 68,914,653 Y686* probably null Het
Itga7 G T 10: 128,941,854 D235Y possibly damaging Het
Kctd3 C T 1: 188,995,776 V199I probably benign Het
Mettl25 A G 10: 105,779,582 probably benign Het
Myoz2 G A 3: 123,016,544 probably benign Het
Nepro C T 16: 44,729,305 Q43* probably null Het
Ophn1 T C X: 98,803,114 D74G probably damaging Het
Plau A G 14: 20,838,567 N84S probably benign Het
Rprd2 A G 3: 95,765,379 V904A possibly damaging Het
Satl1 T C X: 112,405,769 K330E possibly damaging Het
Sis C T 3: 72,907,237 probably benign Het
Slc5a5 A C 8: 70,888,537 I386S probably damaging Het
Slco1c1 T C 6: 141,547,883 Y264H probably damaging Het
Sulf1 A C 1: 12,820,463 D375A probably damaging Het
Tgfbi A G 13: 56,630,595 D393G probably benign Het
Trim59 A C 3: 69,037,379 D209E probably benign Het
Ubqln3 G T 7: 104,142,824 Q20K probably benign Het
Ubr4 A G 4: 139,440,766 D2808G probably damaging Het
Other mutations in Glyat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Glyat APN 19 12648133 splice site probably benign
IGL01288:Glyat APN 19 12650355 missense possibly damaging 0.56
IGL02296:Glyat APN 19 12651261 missense probably damaging 0.99
PIT4458001:Glyat UTSW 19 12648009 missense probably benign 0.34
R0416:Glyat UTSW 19 12651453 missense possibly damaging 0.87
R1463:Glyat UTSW 19 12648103 missense probably damaging 1.00
R1750:Glyat UTSW 19 12646315 missense probably benign 0.01
R2416:Glyat UTSW 19 12651254 missense possibly damaging 0.50
R2504:Glyat UTSW 19 12651398 missense possibly damaging 0.82
R2960:Glyat UTSW 19 12639850 missense probably damaging 1.00
R3958:Glyat UTSW 19 12639833 missense probably benign 0.05
R4126:Glyat UTSW 19 12651479 missense probably benign 0.03
R4561:Glyat UTSW 19 12651280 missense possibly damaging 0.88
R4705:Glyat UTSW 19 12651297 missense possibly damaging 0.68
R5062:Glyat UTSW 19 12650263 missense probably damaging 1.00
R5490:Glyat UTSW 19 12650281 missense probably benign 0.35
R7028:Glyat UTSW 19 12650359 missense probably benign 0.00
R7044:Glyat UTSW 19 12650265 missense probably benign 0.05
R7599:Glyat UTSW 19 12639808 missense probably damaging 0.99
Z1088:Glyat UTSW 19 12648009 missense probably benign 0.00
Posted On2012-12-06