Incidental Mutation 'IGL02296:Glyat'
ID290175
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 #IGL02296
Quality Score
Status
Chromosome19
Chromosomal Location12633308-12653911 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12651261 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 140 (D140V)
Ref Sequence ENSEMBL: ENSMUSP00000114002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044976] [ENSMUST00000119960]
Predicted Effect probably damaging
Transcript: ENSMUST00000044976
AA Change: D174V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043308
Gene: ENSMUSG00000063683
AA Change: D174V

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 damaging
Transcript: ENSMUST00000119960
AA Change: D140V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114002
Gene: ENSMUSG00000063683
AA Change: D140V

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,769,185 R7S unknown Het
Acss3 A T 10: 107,053,451 Y169* probably null Het
Anln T C 9: 22,372,187 K450R possibly damaging Het
Armc10 A T 5: 21,660,633 R225S probably benign Het
Cbfb T A 8: 105,178,680 Y85N probably damaging Het
Col13a1 G T 10: 61,862,025 probably benign Het
Dclk2 T C 3: 86,793,293 I626V probably damaging Het
Epb41 G A 4: 132,003,754 T172M probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gm13089 G A 4: 143,698,481 Q131* probably null Het
Hikeshi A T 7: 89,935,922 F25I probably damaging Het
Ifi204 A G 1: 173,749,314 Y574H possibly damaging Het
Kcnd3 C T 3: 105,667,001 R501* probably null Het
Kdm4a T C 4: 118,177,465 E23G probably damaging Het
Map3k19 C T 1: 127,824,246 S456N probably damaging Het
Mgat4c A G 10: 102,385,160 probably benign Het
Nup214 A G 2: 31,988,188 N289S possibly damaging Het
Obsl1 G T 1: 75,498,149 A674D possibly damaging Het
Olfr384 A T 11: 73,602,706 N42I probably damaging Het
Olfr640 A T 7: 104,022,104 probably null Het
Pak2 T C 16: 32,044,002 probably null Het
Pde4a A T 9: 21,192,569 N138I possibly damaging Het
Per1 A G 11: 69,102,175 D286G probably damaging Het
Prdx2 T A 8: 84,974,052 D188E probably benign Het
Ptgis T C 2: 167,206,737 K453R probably damaging Het
Radil A G 5: 142,506,463 V470A probably benign Het
Rgs12 A G 5: 34,966,120 S416G probably damaging Het
Rnf213 A G 11: 119,463,336 H4013R probably benign Het
Ttc17 A G 2: 94,377,710 L185P probably damaging Het
Ttn A G 2: 76,712,424 I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 probably benign Het
Other mutations in Glyat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Glyat APN 19 12648133 splice site probably benign
IGL00766:Glyat APN 19 12651262 missense probably benign 0.19
IGL01288:Glyat APN 19 12650355 missense possibly damaging 0.56
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 On2015-04-16