Incidental Mutation 'R5490:Glyat'
ID 432066
Institutional Source Beutler Lab
Gene Symbol Glyat
Ensembl Gene ENSMUSG00000063683
Gene Name glycine-N-acyltransferase
Synonyms A330009E03Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 12610672-12629101 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 12627645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 80 (T80M)
Ref Sequence ENSEMBL: ENSMUSP00000114002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044976] [ENSMUST00000119960]
AlphaFold Q91XE0
Predicted Effect probably benign
Transcript: ENSMUST00000044976
AA Change: T114M

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: T114M

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: T80M

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: T80M

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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Glyat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Glyat APN 19 12,625,497 (GRCm39) splice site probably benign
IGL00766:Glyat APN 19 12,628,626 (GRCm39) missense probably benign 0.19
IGL01288:Glyat APN 19 12,627,719 (GRCm39) missense possibly damaging 0.56
IGL02296:Glyat APN 19 12,628,625 (GRCm39) missense probably damaging 0.99
PIT4458001:Glyat UTSW 19 12,625,373 (GRCm39) missense probably benign 0.34
R0416:Glyat UTSW 19 12,628,817 (GRCm39) missense possibly damaging 0.87
R1463:Glyat UTSW 19 12,625,467 (GRCm39) missense probably damaging 1.00
R1750:Glyat UTSW 19 12,623,679 (GRCm39) missense probably benign 0.01
R2416:Glyat UTSW 19 12,628,618 (GRCm39) missense possibly damaging 0.50
R2504:Glyat UTSW 19 12,628,762 (GRCm39) missense possibly damaging 0.82
R2960:Glyat UTSW 19 12,617,214 (GRCm39) missense probably damaging 1.00
R3958:Glyat UTSW 19 12,617,197 (GRCm39) missense probably benign 0.05
R4126:Glyat UTSW 19 12,628,843 (GRCm39) missense probably benign 0.03
R4561:Glyat UTSW 19 12,628,644 (GRCm39) missense possibly damaging 0.88
R4705:Glyat UTSW 19 12,628,661 (GRCm39) missense possibly damaging 0.68
R5062:Glyat UTSW 19 12,627,627 (GRCm39) missense probably damaging 1.00
R7028:Glyat UTSW 19 12,627,723 (GRCm39) missense probably benign 0.00
R7044:Glyat UTSW 19 12,627,629 (GRCm39) missense probably benign 0.05
R7599:Glyat UTSW 19 12,617,172 (GRCm39) missense probably damaging 0.99
R9595:Glyat UTSW 19 12,623,728 (GRCm39) missense probably damaging 1.00
R9784:Glyat UTSW 19 12,628,844 (GRCm39) missense probably benign 0.00
Z1088:Glyat UTSW 19 12,625,373 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTGCAGCAGGAACAACATG -3'
(R):5'- TACTAGTGTGGACAGCAAAGAC -3'

Sequencing Primer
(F):5'- GCAGCAGGAACAACATGGTCAC -3'
(R):5'- GTAAGAAGGATACAGCAGGTCTTGTC -3'
Posted On 2016-10-05