Incidental Mutation 'IGL01613:Aacs'
ID92255
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: 0.510) question?
Stock #IGL01613
Quality Score
Status
Chromosome5
Chromosomal Location125475814-125517410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 125512652 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 446 (M446R)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031445
AA Change: M446R

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: M446R

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1046 T G 2: 86,217,161 D183A probably damaging Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign 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
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
R7543:Aacs UTSW 5 125482856 missense probably damaging 1.00
R7874:Aacs UTSW 5 125506207 missense possibly damaging 0.60
R7923:Aacs UTSW 5 125511884 missense probably damaging 1.00
Posted On2013-12-09