Incidental Mutation 'R1478:Aacs'
ID165613
Institutional Source Beutler Lab
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Nameacetoacetyl-CoA synthetase
Synonyms2210408B16Rik
MMRRC Submission 039531-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.497) question?
Stock #R1478 (G1)
Quality Score135
Status Not validated
Chromosome5
Chromosomal Location125475814-125517410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 125503223 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 204 (I204N)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031445
AA Change: I204N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: I204N

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,469,056 L170Q probably damaging Het
Acaca A G 11: 84,372,627 T2025A probably damaging Het
B4galt3 C T 1: 171,276,365 R170C probably benign Het
BC028528 T C 3: 95,891,959 probably null Het
Ccdc73 A T 2: 104,907,610 Q17L possibly damaging Het
Ccdc73 A G 2: 104,914,667 T50A possibly damaging Het
Ccdc83 T C 7: 90,259,469 D19G probably damaging Het
Cct8l1 T C 5: 25,517,769 V494A probably benign Het
Chd1 T C 17: 15,739,507 F663L probably damaging Het
Chn2 A T 6: 54,293,080 E319V probably damaging Het
Cnnm1 T C 19: 43,471,856 V679A probably damaging Het
Cntn6 C T 6: 104,776,428 T447I probably benign Het
Cyp3a11 G T 5: 145,858,771 L457I probably benign Het
Dera T A 6: 137,830,195 S214T possibly damaging Het
Dmtf1 A G 5: 9,121,404 V501A possibly damaging Het
Dnpep A G 1: 75,316,027 V114A probably damaging Het
Dscam C T 16: 96,790,910 V722M probably benign Het
Dsp A G 13: 38,181,138 N499S probably damaging Het
Ecd A T 14: 20,346,657 Y53* probably null Het
Esyt3 T C 9: 99,318,066 T692A probably benign Het
Fam19a2 T A 10: 123,593,496 M5K possibly damaging Het
Fat1 T A 8: 45,025,622 N2545K probably damaging Het
Fndc3a A G 14: 72,557,632 probably null Het
Fscn3 A G 6: 28,430,568 M246V probably benign Het
Gde1 G T 7: 118,691,784 T106K probably benign Het
Gjc2 A G 11: 59,177,608 I16T possibly damaging Het
Hacd4 A T 4: 88,423,023 M168K probably damaging Het
Hmx3 A G 7: 131,544,097 E178G probably damaging Het
Htt A G 5: 34,803,827 Y266C probably damaging Het
Kif27 G T 13: 58,303,545 R990S probably damaging Het
Krtap22-2 A T 16: 89,010,646 Y21* probably null Het
Lrrc41 T A 4: 116,095,208 L661* probably null Het
Lrrc63 T C 14: 75,125,984 T236A probably benign Het
Mmp13 T C 9: 7,272,892 L84P probably damaging Het
Myh8 T C 11: 67,292,725 I754T probably benign Het
Neb A C 2: 52,175,607 D5961E probably benign Het
Nlrx1 T C 9: 44,264,077 H134R probably benign Het
Npepps A T 11: 97,226,847 M542K probably benign Het
Nup160 C T 2: 90,679,399 probably benign Het
Olfr402 T A 11: 74,155,137 probably null Het
Olfr952 T A 9: 39,426,592 T160S possibly damaging Het
Pikfyve T C 1: 65,262,977 probably null Het
Ppp6r1 A T 7: 4,640,378 probably null Het
Prss33 A G 17: 23,835,098 W45R probably damaging Het
Ptprf A T 4: 118,212,105 Y980* probably null Het
Qrich1 T C 9: 108,559,332 V743A probably benign Het
Rev3l G A 10: 39,783,333 probably null Het
Samd9l A T 6: 3,376,369 N297K probably benign Het
Sap130 A G 18: 31,680,474 H528R possibly damaging Het
Slc9b2 T C 3: 135,326,102 V241A probably benign Het
Snx14 A T 9: 88,394,528 V577E probably benign Het
Srrm2 T C 17: 23,815,902 S507P probably benign Het
Stat2 A G 10: 128,282,100 probably null Het
Susd5 T C 9: 114,096,684 F545S probably benign Het
Tnnt2 A G 1: 135,848,026 T107A probably benign Het
Trappc6b T A 12: 59,048,167 I41F possibly damaging Het
Ttn T A 2: 76,852,073 probably benign Het
Vmn1r88 A C 7: 13,177,951 D78A probably damaging Het
Wisp3 G A 10: 39,153,243 R230W probably damaging Het
Xpc C T 6: 91,508,528 D122N possibly damaging Het
Xpo1 C T 11: 23,291,623 A890V probably damaging Het
Zfp493 A G 13: 67,786,561 H211R probably damaging Het
Zfp958 A T 8: 4,629,190 H405L probably damaging Het
Other mutations in Aacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Aacs APN 5 125514190 missense probably benign 0.00
IGL00155:Aacs APN 5 125513171 missense probably damaging 1.00
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
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
R7543:Aacs UTSW 5 125482856 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGAGAACCTTGTAGGCGGCAG -3'
(R):5'- TCCCCACCTCAGATATGTGGAACC -3'

Sequencing Primer
(F):5'- GGCCACTGCTTCCTAGATGTG -3'
(R):5'- ACCTTTCACAACTCGCTGCA -3'
Posted On2014-03-28