Incidental Mutation 'R5863:Aacs'
ID 454004
Institutional Source Beutler Lab
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Name acetoacetyl-CoA synthetase
Synonyms 2210408B16Rik
MMRRC Submission 043232-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R5863 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 125552937-125594469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125580287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 204 (I204T)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
AlphaFold Q9D2R0
Predicted Effect possibly damaging
Transcript: ENSMUST00000031445
AA Change: I204T

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: I204T

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: ENSMUST00000144361
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,786,575 (GRCm39) I136V probably benign Het
Adam6a T C 12: 113,507,987 (GRCm39) I120T probably benign Het
Add3 C A 19: 53,222,301 (GRCm39) L303I probably benign Het
Anln A G 9: 22,249,280 (GRCm39) L149P probably damaging Het
Arhgef4 A G 1: 34,761,926 (GRCm39) E394G unknown Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Auh T G 13: 53,052,694 (GRCm39) N141T probably benign Het
B3galt2 G A 1: 143,522,104 (GRCm39) R80Q probably benign Het
Bcl9 T C 3: 97,117,666 (GRCm39) T343A probably benign Het
C3 T A 17: 57,530,141 (GRCm39) I487F probably benign Het
Cast T C 13: 74,884,875 (GRCm39) K326E probably damaging Het
Ccdc185 T A 1: 182,576,122 (GRCm39) H189L possibly damaging Het
Cep112 A G 11: 108,497,058 (GRCm39) E51G probably damaging Het
Cpvl G A 6: 53,850,413 (GRCm39) P475S probably damaging Het
Cstf2t G T 19: 31,060,477 (GRCm39) L4F probably damaging Het
Dido1 A G 2: 180,303,566 (GRCm39) V1446A probably benign Het
Dlg2 T A 7: 91,360,987 (GRCm39) M35K probably benign Het
Dnah12 C T 14: 26,576,878 (GRCm39) L3043F probably damaging Het
Fam135a A G 1: 24,053,863 (GRCm39) S1225P possibly damaging Het
Fhod3 T C 18: 25,258,810 (GRCm39) F1443S probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Gm14226 C A 2: 154,866,211 (GRCm39) T56N probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Kcnj8 T A 6: 142,511,414 (GRCm39) I398F probably benign Het
Khdrbs1 G A 4: 129,616,493 (GRCm39) R284C probably damaging Het
Nog A G 11: 89,192,356 (GRCm39) L164P probably damaging Het
Or13a18 G A 7: 140,190,544 (GRCm39) G155D probably damaging Het
Or8c20 T C 9: 38,261,083 (GRCm39) S235P probably benign Het
Pkhd1 T A 1: 20,590,434 (GRCm39) Q1771L possibly damaging Het
Prl3c1 T A 13: 27,387,593 (GRCm39) *193K probably null Het
Prpf4b T A 13: 35,083,111 (GRCm39) I829N possibly damaging Het
Rassf1 C T 9: 107,435,023 (GRCm39) P103S probably damaging Het
Rdh16f2 A C 10: 127,712,256 (GRCm39) I238L probably benign Het
Sdk2 G T 11: 113,725,810 (GRCm39) D1146E probably damaging Het
Slc16a3 T C 11: 120,848,779 (GRCm39) F412L probably benign Het
Slc24a1 T C 9: 64,835,824 (GRCm39) T768A unknown Het
Stk32a A G 18: 43,448,209 (GRCm39) N396S probably benign Het
Ston1 T C 17: 88,943,373 (GRCm39) S260P possibly damaging Het
Tmem135 A G 7: 88,797,176 (GRCm39) probably null Het
Tmem30c A G 16: 57,090,418 (GRCm39) V263A probably benign Het
Ttn T A 2: 76,587,102 (GRCm39) T21632S probably damaging Het
Ube2w A G 1: 16,655,531 (GRCm39) I141T probably damaging Het
Zbtb47 A G 9: 121,596,596 (GRCm39) S651G probably benign Het
Zscan20 A T 4: 128,480,141 (GRCm39) C783* probably null Het
Other mutations in Aacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Aacs APN 5 125,591,254 (GRCm39) missense probably benign 0.00
IGL00155:Aacs APN 5 125,590,235 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGACATGCGTTTGAGTCTGC -3'
(R):5'- TCTCTGTGTGCACATACATGC -3'

Sequencing Primer
(F):5'- GCCACTGCTTCCTAGATGTGG -3'
(R):5'- TACATGCACACAAGTAAACTCAAG -3'
Posted On 2017-02-10