Incidental Mutation 'R5732:Acaa1b'
ID 451499
Institutional Source Beutler Lab
Gene Symbol Acaa1b
Ensembl Gene ENSMUSG00000010651
Gene Name acetyl-Coenzyme A acyltransferase 1B
Synonyms thiolase B
MMRRC Submission 043347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5732 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 118977111-118986149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118977462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 407 (M407L)
Ref Sequence ENSEMBL: ENSMUSP00000010795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010795] [ENSMUST00000140326] [ENSMUST00000165231]
AlphaFold Q8VCH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000010795
AA Change: M407L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
AA Change: M407L

DomainStartEndE-ValueType
Pfam:Thiolase_N 38 291 6.7e-90 PFAM
Pfam:Thiolase_C 298 421 3e-53 PFAM
Pfam:ACP_syn_III_C 329 420 1.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137047
Predicted Effect probably benign
Transcript: ENSMUST00000140326
SMART Domains Protein: ENSMUSP00000122380
Gene: ENSMUSG00000038060

DomainStartEndE-ValueType
coiled coil region 127 154 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1343 1354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165231
SMART Domains Protein: ENSMUSP00000128874
Gene: ENSMUSG00000038060

DomainStartEndE-ValueType
coiled coil region 127 154 N/A INTRINSIC
low complexity region 1025 1042 N/A INTRINSIC
low complexity region 1333 1354 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 T C 11: 94,460,768 (GRCm39) probably benign Het
Apob A G 12: 8,060,353 (GRCm39) D2945G probably benign Het
Atg2a T C 19: 6,307,490 (GRCm39) Y1475H probably damaging Het
Capn5 A G 7: 97,778,593 (GRCm39) L342P possibly damaging Het
Ccdc152 A G 15: 3,321,860 (GRCm39) probably null Het
Ccdc7b A G 8: 129,799,195 (GRCm39) M91V possibly damaging Het
Cd3g T C 9: 44,884,929 (GRCm39) E105G possibly damaging Het
Cdadc1 A G 14: 59,834,360 (GRCm39) L44P probably damaging Het
Cdh23 A G 10: 60,167,096 (GRCm39) V1852A possibly damaging Het
Cdx2 T C 5: 147,238,833 (GRCm39) Q252R possibly damaging Het
Cps1 A T 1: 67,196,923 (GRCm39) I325F probably benign Het
Dctn1 G A 6: 83,174,931 (GRCm39) probably null Het
Dcun1d3 T C 7: 119,457,256 (GRCm39) K152R probably benign Het
Dhx35 G A 2: 158,673,705 (GRCm39) V379M probably damaging Het
Fam171a2 T C 11: 102,330,807 (GRCm39) E224G possibly damaging Het
Flt1 G T 5: 147,571,293 (GRCm39) Y671* probably null Het
Fndc3b T C 3: 27,515,922 (GRCm39) Y628C probably damaging Het
Foxj3 A T 4: 119,443,008 (GRCm39) D144V probably damaging Het
Gp2 A G 7: 119,048,331 (GRCm39) V429A probably damaging Het
Hydin T A 8: 111,178,690 (GRCm39) I1095N probably benign Het
Kat2a A G 11: 100,599,066 (GRCm39) F571S probably damaging Het
Kcnq1 C A 7: 142,702,493 (GRCm39) probably benign Het
Letm2 A C 8: 26,077,341 (GRCm39) S250A possibly damaging Het
Llgl1 T C 11: 60,600,286 (GRCm39) V545A probably benign Het
Lrfn3 T C 7: 30,059,031 (GRCm39) D398G probably benign Het
Lrig1 G T 6: 94,676,520 (GRCm39) C49* probably null Het
Mug1 A G 6: 121,855,452 (GRCm39) I929V probably benign Het
Naaa G A 5: 92,411,314 (GRCm39) T291I probably damaging Het
Ndufaf1 G A 2: 119,490,521 (GRCm39) Q180* probably null Het
Nr3c1 A T 18: 39,548,752 (GRCm39) H741Q probably damaging Het
Nsun5 T C 5: 135,400,204 (GRCm39) L109P probably damaging Het
Pacsin3 A G 2: 91,090,605 (GRCm39) E18G probably damaging Het
Rpgr G A X: 10,032,511 (GRCm39) P857L probably benign Het
Siglec1 G A 2: 130,916,188 (GRCm39) T1254M probably benign Het
Slc35a4 A T 18: 36,815,394 (GRCm39) T75S probably benign Het
Slc52a2 T C 15: 76,425,274 (GRCm39) I434T probably benign Het
Slco2a1 C T 9: 102,927,455 (GRCm39) T116I probably damaging Het
Snrpd2 T C 7: 18,886,538 (GRCm39) probably null Het
Tbc1d32 T A 10: 55,964,489 (GRCm39) L903F probably damaging Het
Tex10 G T 4: 48,460,046 (GRCm39) T435K probably damaging Het
Tmem266 T C 9: 55,288,120 (GRCm39) S66P probably damaging Het
Top2b A T 14: 16,400,106 (GRCm38) E581D possibly damaging Het
Uggt1 A T 1: 36,200,852 (GRCm39) probably null Het
Wdr47 T A 3: 108,540,472 (GRCm39) Y622* probably null Het
Zfp644 A T 5: 106,784,989 (GRCm39) H519Q probably damaging Het
Zfp687 T C 3: 94,918,528 (GRCm39) M415V possibly damaging Het
Other mutations in Acaa1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03012:Acaa1b APN 9 118,986,014 (GRCm39) missense probably benign 0.00
R0330:Acaa1b UTSW 9 118,983,038 (GRCm39) missense probably damaging 1.00
R1036:Acaa1b UTSW 9 118,979,884 (GRCm39) unclassified probably benign
R1916:Acaa1b UTSW 9 118,985,730 (GRCm39) missense probably damaging 1.00
R3716:Acaa1b UTSW 9 118,985,709 (GRCm39) missense probably benign 0.06
R4805:Acaa1b UTSW 9 118,986,014 (GRCm39) missense probably benign 0.00
R5535:Acaa1b UTSW 9 118,977,474 (GRCm39) missense probably damaging 1.00
R6883:Acaa1b UTSW 9 118,985,728 (GRCm39) missense possibly damaging 0.86
R7298:Acaa1b UTSW 9 118,980,915 (GRCm39) missense probably benign
R7330:Acaa1b UTSW 9 118,977,450 (GRCm39) missense possibly damaging 0.71
R9118:Acaa1b UTSW 9 118,985,957 (GRCm39) missense probably benign 0.01
R9248:Acaa1b UTSW 9 118,983,002 (GRCm39) missense probably benign 0.01
R9405:Acaa1b UTSW 9 118,978,506 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGAACCGGATTGGATGCC -3'
(R):5'- TAACCAGGTACCTGTCACCC -3'

Sequencing Primer
(F):5'- ACGTGTACCCATGCTGCAATTAC -3'
(R):5'- TCACCCGGGTGTGTGTC -3'
Posted On 2017-01-03