Incidental Mutation 'IGL00155:Aacs'
ID 1621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Name acetoacetyl-CoA synthetase
Synonyms 2210408B16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # IGL00155
Quality Score
Status
Chromosome 5
Chromosomal Location 125552937-125594469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125590235 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 498 (F498S)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
AlphaFold Q9D2R0
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
Arhgap11a A G 2: 113,664,601 (GRCm39) S561P probably benign Het
Best3 T C 10: 116,824,632 (GRCm39) Y33H probably damaging Het
Cd209b T A 8: 3,969,945 (GRCm39) probably benign Het
Cep152 A G 2: 125,405,808 (GRCm39) S1575P probably benign Het
Crabp2 A G 3: 87,859,506 (GRCm39) Y52C probably damaging Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Ctnna2 A T 6: 76,957,744 (GRCm39) W137R probably damaging Het
Cxcl9 T A 5: 92,471,728 (GRCm39) H104L possibly damaging Het
Ddr2 A G 1: 169,811,996 (GRCm39) I742T possibly damaging Het
Frem1 A G 4: 82,877,626 (GRCm39) V223A possibly damaging Het
Fzd10 T A 5: 128,678,592 (GRCm39) I104N probably damaging Het
Greb1 A G 12: 16,761,962 (GRCm39) S473P probably damaging Het
Gtf2i T C 5: 134,271,602 (GRCm39) Y873C probably damaging Het
Igsf6 T A 7: 120,669,876 (GRCm39) K89* probably null Het
Ints3 A G 3: 90,313,636 (GRCm39) F331L probably damaging Het
Kcnh3 A T 15: 99,140,354 (GRCm39) H1080L possibly damaging Het
Mettl15 A T 2: 108,923,521 (GRCm39) Y300* probably null Het
Mms19 A G 19: 41,936,672 (GRCm39) F654L probably benign Het
Myc A G 15: 61,861,669 (GRCm39) H425R probably benign Het
Ntn1 G T 11: 68,117,445 (GRCm39) probably benign Het
Ormdl2 C A 10: 128,655,944 (GRCm39) G69W probably damaging Het
Pdpr T C 8: 111,828,704 (GRCm39) V69A possibly damaging Het
Rbbp6 T C 7: 122,587,908 (GRCm39) I254T probably damaging Het
Sema6d A G 2: 124,501,785 (GRCm39) R543G possibly damaging Het
Slc18a1 C T 8: 69,503,998 (GRCm39) A314T probably damaging Het
Slc22a26 A G 19: 7,760,201 (GRCm39) L514P probably damaging Het
Slc22a28 A C 19: 8,107,567 (GRCm39) S167A possibly damaging Het
Speer1m A G 5: 11,971,377 (GRCm39) S110G possibly damaging Het
Tchh A G 3: 93,352,606 (GRCm39) E682G unknown Het
Thbs2 A T 17: 14,889,097 (GRCm39) M1134K probably damaging Het
Tmem26 A G 10: 68,611,184 (GRCm39) S218G probably damaging Het
Tmprss11c A T 5: 86,387,254 (GRCm39) S208R probably benign Het
Tnfrsf8 T C 4: 145,019,161 (GRCm39) probably null Het
Ush2a T C 1: 188,596,875 (GRCm39) S3872P probably benign Het
Vmn1r69 T C 7: 10,313,879 (GRCm39) N205S probably benign Het
Vmn2r54 T A 7: 12,365,840 (GRCm39) probably benign Het
Wwtr1 A T 3: 57,370,942 (GRCm39) M328K possibly damaging Het
Zfp64 G A 2: 168,768,601 (GRCm39) S337L probably benign Het
Other mutations in Aacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Aacs APN 5 125,591,254 (GRCm39) missense probably benign 0.00
IGL00906:Aacs APN 5 125,580,338 (GRCm39) missense probably benign 0.00
IGL00910:Aacs APN 5 125,585,772 (GRCm39) missense probably benign 0.00
IGL01613:Aacs APN 5 125,589,716 (GRCm39) missense possibly damaging 0.48
IGL01796:Aacs APN 5 125,590,273 (GRCm39) missense probably damaging 1.00
IGL02155:Aacs APN 5 125,583,350 (GRCm39) missense probably null 1.00
IGL02585:Aacs APN 5 125,592,121 (GRCm39) missense possibly damaging 0.78
IGL03218:Aacs APN 5 125,561,727 (GRCm39) splice site probably null
PIT4283001:Aacs UTSW 5 125,561,719 (GRCm39) missense probably damaging 0.99
R0328:Aacs UTSW 5 125,593,323 (GRCm39) missense probably benign 0.00
R1478:Aacs UTSW 5 125,580,287 (GRCm39) missense possibly damaging 0.94
R1511:Aacs UTSW 5 125,592,041 (GRCm39) missense probably benign 0.00
R1544:Aacs UTSW 5 125,593,394 (GRCm39) missense possibly damaging 0.82
R1616:Aacs UTSW 5 125,561,590 (GRCm39) splice site probably null
R1709:Aacs UTSW 5 125,566,942 (GRCm39) missense probably benign 0.00
R1725:Aacs UTSW 5 125,559,999 (GRCm39) critical splice donor site probably null
R2424:Aacs UTSW 5 125,590,159 (GRCm39) splice site probably null
R2472:Aacs UTSW 5 125,583,316 (GRCm39) missense probably damaging 1.00
R3612:Aacs UTSW 5 125,580,251 (GRCm39) missense probably damaging 1.00
R3732:Aacs UTSW 5 125,583,326 (GRCm39) missense probably damaging 0.99
R3766:Aacs UTSW 5 125,583,326 (GRCm39) missense probably damaging 0.99
R4740:Aacs UTSW 5 125,583,316 (GRCm39) missense probably damaging 1.00
R4911:Aacs UTSW 5 125,583,224 (GRCm39) missense possibly damaging 0.68
R5433:Aacs UTSW 5 125,592,078 (GRCm39) missense probably benign 0.01
R5477:Aacs UTSW 5 125,588,984 (GRCm39) missense probably damaging 1.00
R5863:Aacs UTSW 5 125,580,287 (GRCm39) missense possibly damaging 0.88
R6919:Aacs UTSW 5 125,583,227 (GRCm39) missense probably benign 0.35
R6943:Aacs UTSW 5 125,583,362 (GRCm39) critical splice donor site probably null
R7543:Aacs UTSW 5 125,559,920 (GRCm39) missense probably damaging 1.00
R7874:Aacs UTSW 5 125,583,271 (GRCm39) missense possibly damaging 0.60
R7923:Aacs UTSW 5 125,588,948 (GRCm39) missense probably damaging 1.00
R9667:Aacs UTSW 5 125,580,691 (GRCm39) missense possibly damaging 0.95
Posted On 2011-07-12