Incidental Mutation 'R6919:Aacs'
ID 539492
Institutional Source Beutler Lab
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Name acetoacetyl-CoA synthetase
Synonyms 2210408B16Rik
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 125552937-125594469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125583227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 261 (D261G)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
AlphaFold Q9D2R0
Predicted Effect probably benign
Transcript: ENSMUST00000031445
AA Change: D261G

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: D261G

DomainStartEndE-ValueType
Pfam:ACAS_N 47 105 1.1e-11 PFAM
Pfam:AMP-binding 103 546 1.7e-44 PFAM
Meta Mutation Damage Score 0.4745 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M probably damaging 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
R5863:Aacs UTSW 5 125,580,287 (GRCm39) missense possibly damaging 0.88
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'- TTTCCTTCCTCAGGCACAGG -3'
(R):5'- ATTCTGCAGAAGCGACTGGC -3'

Sequencing Primer
(F):5'- GCACAGGGCTTCCTTCCATAG -3'
(R):5'- CCTGATTGATGACTGTTAGCCCAG -3'
Posted On 2018-11-06