Incidental Mutation 'IGL02733:Acnat1'
ID305534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acnat1
Ensembl Gene ENSMUSG00000070985
Gene Nameacyl-coenzyme A amino acid N-acyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.047) question?
Stock #IGL02733
Quality Score
Status
Chromosome4
Chromosomal Location49447105-49473912 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 49447793 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 245 (T245S)
Ref Sequence ENSEMBL: ENSMUSP00000103325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095086] [ENSMUST00000107697] [ENSMUST00000135976]
Predicted Effect probably benign
Transcript: ENSMUST00000095086
AA Change: T263S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: T263S

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 15 144 2.2e-44 PFAM
low complexity region 149 162 N/A INTRINSIC
Pfam:Abhydrolase_5 170 360 3.6e-8 PFAM
Pfam:FSH1 191 361 4.5e-7 PFAM
Pfam:BAAT_C 206 411 5.5e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107697
AA Change: T245S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: T245S

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 14 145 5.7e-42 PFAM
Pfam:Abhydrolase_5 156 342 3.3e-8 PFAM
Pfam:BAAT_C 188 393 1.6e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135976
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,780,997 I718V probably benign Het
Cbs T A 17: 31,625,031 N209Y probably benign Het
Cd163 T C 6: 124,325,341 C955R probably damaging Het
Dnajb3 A G 1: 88,204,940 probably benign Het
Dopey2 G A 16: 93,739,191 R59Q possibly damaging Het
Dtx1 A G 5: 120,681,435 L566P probably damaging Het
Fam198a A G 9: 121,965,028 R83G probably benign Het
Fgf14 G T 14: 123,983,801 P197Q probably damaging Het
Gcc1 G A 6: 28,420,662 Q66* probably null Het
Gypc T C 18: 32,559,826 probably benign Het
Helz2 G A 2: 181,235,026 A1225V probably benign Het
Herc1 A G 9: 66,450,992 T2452A probably benign Het
Hoxc4 A G 15: 103,034,726 I2V probably benign Het
Impa1 A G 3: 10,328,965 I14T probably benign Het
Itih1 T A 14: 30,936,720 D400V probably damaging Het
Lama3 T C 18: 12,578,127 Y3206H probably damaging Het
Lce1k T A 3: 92,806,885 probably benign Het
Mcpt4 C T 14: 56,060,667 M142I probably benign Het
Myo15b A G 11: 115,884,250 E2168G probably benign Het
Myom3 G T 4: 135,814,303 E1402* probably null Het
Nfyb G T 10: 82,755,033 Q55K probably damaging Het
Nobox T C 6: 43,307,202 K137E possibly damaging Het
Pnlip T A 19: 58,680,788 D406E probably benign Het
Pole A T 5: 110,312,728 probably benign Het
Ppp2r2b T C 18: 42,648,728 Y336C possibly damaging Het
Prkg1 T C 19: 31,302,301 T178A probably damaging Het
Prr11 C T 11: 87,103,545 A92T possibly damaging Het
Racgap1 G T 15: 99,639,704 S67R probably damaging Het
Scn10a G A 9: 119,616,705 P1462S probably damaging Het
Sptbn1 T C 11: 30,197,747 E29G probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Vmn2r72 T A 7: 85,751,813 T133S probably benign Het
Zbtb20 A G 16: 43,609,933 H269R possibly damaging Het
Zwilch A T 9: 64,146,836 N526K probably benign Het
Other mutations in Acnat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03241:Acnat1 APN 4 49447702 missense probably benign 0.01
R0478:Acnat1 UTSW 4 49450901 missense probably damaging 1.00
R0568:Acnat1 UTSW 4 49451003 missense possibly damaging 0.93
R1299:Acnat1 UTSW 4 49450925 missense possibly damaging 0.94
R1538:Acnat1 UTSW 4 49447835 missense possibly damaging 0.69
R1750:Acnat1 UTSW 4 49451042 missense probably benign 0.08
R1847:Acnat1 UTSW 4 49447716 missense possibly damaging 0.71
R1913:Acnat1 UTSW 4 49447498 missense probably damaging 1.00
R2401:Acnat1 UTSW 4 49451077 missense possibly damaging 0.72
R3195:Acnat1 UTSW 4 49447457 missense probably damaging 1.00
R3196:Acnat1 UTSW 4 49447457 missense probably damaging 1.00
R3948:Acnat1 UTSW 4 49447477 missense possibly damaging 0.52
R4395:Acnat1 UTSW 4 49447679 missense probably benign 0.00
R4598:Acnat1 UTSW 4 49450781 missense probably benign 0.22
R4774:Acnat1 UTSW 4 49450784 missense probably benign 0.08
R6575:Acnat1 UTSW 4 49450785 missense possibly damaging 0.53
R7545:Acnat1 UTSW 4 49449142 nonsense probably null
R7891:Acnat1 UTSW 4 49449181 missense possibly damaging 0.89
R7970:Acnat1 UTSW 4 49449266 missense probably damaging 1.00
R8219:Acnat1 UTSW 4 49447748 missense probably benign 0.02
R8232:Acnat1 UTSW 4 49450817 missense probably damaging 0.99
R8312:Acnat1 UTSW 4 49449142 nonsense probably null
Z1088:Acnat1 UTSW 4 49447588 missense probably damaging 1.00
Posted On2015-04-16