Incidental Mutation 'IGL00155:Aacs'
ID1621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Nameacetoacetyl-CoA synthetase
Synonyms2210408B16Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.624) question?
Stock #IGL00155
Quality Score
Status
Chromosome5
Chromosomal Location125475814-125517410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125513171 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 498 (F498S)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
Predicted Effect probably damaging
Transcript: ENSMUST00000031445
AA Change: F498S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: F498S

DomainStartEndE-ValueType
Pfam:ACAS_N 47 105 1.1e-11 PFAM
Pfam:AMP-binding 103 546 1.7e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200286
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N22Rik A G 5: 11,921,410 S110G possibly damaging Het
Arhgap11a A G 2: 113,834,256 S561P probably benign Het
Best3 T C 10: 116,988,727 Y33H probably damaging Het
Cd209b T A 8: 3,919,945 probably benign Het
Cep152 A G 2: 125,563,888 S1575P probably benign Het
Crabp2 A G 3: 87,952,199 Y52C probably damaging Het
Crybg1 T C 10: 43,992,509 D1017G probably damaging Het
Ctnna2 A T 6: 76,980,761 W137R probably damaging Het
Cxcl9 T A 5: 92,323,869 H104L possibly damaging Het
Ddr2 A G 1: 169,984,427 I742T possibly damaging Het
Frem1 A G 4: 82,959,389 V223A possibly damaging Het
Fzd10 T A 5: 128,601,528 I104N probably damaging Het
Greb1 A G 12: 16,711,961 S473P probably damaging Het
Gtf2i T C 5: 134,242,748 Y873C probably damaging Het
Igsf6 T A 7: 121,070,653 K89* probably null Het
Ints3 A G 3: 90,406,329 F331L probably damaging Het
Kcnh3 A T 15: 99,242,473 H1080L possibly damaging Het
Mettl15 A T 2: 109,093,176 Y300* probably null Het
Mms19 A G 19: 41,948,233 F654L probably benign Het
Myc A G 15: 61,989,820 H425R probably benign Het
Ntn1 G T 11: 68,226,619 probably benign Het
Ormdl2 C A 10: 128,820,075 G69W probably damaging Het
Pdpr T C 8: 111,102,072 V69A possibly damaging Het
Rbbp6 T C 7: 122,988,685 I254T probably damaging Het
Sema6d A G 2: 124,659,865 R543G possibly damaging Het
Slc18a1 C T 8: 69,051,346 A314T probably damaging Het
Slc22a26 A G 19: 7,782,836 L514P probably damaging Het
Slc22a28 A C 19: 8,130,203 S167A possibly damaging Het
Tchh A G 3: 93,445,299 E682G unknown Het
Thbs2 A T 17: 14,668,835 M1134K probably damaging Het
Tmem26 A G 10: 68,775,354 S218G probably damaging Het
Tmprss11c A T 5: 86,239,395 S208R probably benign Het
Tnfrsf8 T C 4: 145,292,591 probably null Het
Ush2a T C 1: 188,864,678 S3872P probably benign Het
Vmn1r69 T C 7: 10,579,952 N205S probably benign Het
Vmn2r54 T A 7: 12,631,913 probably benign Het
Wwtr1 A T 3: 57,463,521 M328K possibly damaging Het
Zfp64 G A 2: 168,926,681 S337L probably benign Het
Other mutations in Aacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Aacs APN 5 125514190 missense probably benign 0.00
IGL00906:Aacs APN 5 125503274 missense probably benign 0.00
IGL00910:Aacs APN 5 125508708 missense probably benign 0.00
IGL01613:Aacs APN 5 125512652 missense possibly damaging 0.48
IGL01796:Aacs APN 5 125513209 missense probably damaging 1.00
IGL02155:Aacs APN 5 125506286 missense probably null 1.00
IGL02585:Aacs APN 5 125515057 missense possibly damaging 0.78
IGL03218:Aacs APN 5 125484663 splice site probably null
PIT4283001:Aacs UTSW 5 125484655 missense probably damaging 0.99
R0328:Aacs UTSW 5 125516259 missense probably benign 0.00
R1478:Aacs UTSW 5 125503223 missense possibly damaging 0.94
R1511:Aacs UTSW 5 125514977 missense probably benign 0.00
R1544:Aacs UTSW 5 125516330 missense possibly damaging 0.82
R1616:Aacs UTSW 5 125484526 splice site probably null
R1709:Aacs UTSW 5 125489878 missense probably benign 0.00
R1725:Aacs UTSW 5 125482935 critical splice donor site probably null
R2424:Aacs UTSW 5 125513095 splice site probably null
R2472:Aacs UTSW 5 125506252 missense probably damaging 1.00
R3612:Aacs UTSW 5 125503187 missense probably damaging 1.00
R3732:Aacs UTSW 5 125506262 missense probably damaging 0.99
R3766:Aacs UTSW 5 125506262 missense probably damaging 0.99
R4740:Aacs UTSW 5 125506252 missense probably damaging 1.00
R4911:Aacs UTSW 5 125506160 missense possibly damaging 0.68
R5433:Aacs UTSW 5 125515014 missense probably benign 0.01
R5477:Aacs UTSW 5 125511920 missense probably damaging 1.00
R5863:Aacs UTSW 5 125503223 missense possibly damaging 0.88
R6919:Aacs UTSW 5 125506163 missense probably benign 0.35
R6943:Aacs UTSW 5 125506298 critical splice donor site probably null
Posted On2011-07-12