Incidental Mutation 'IGL03012:Acaa1b'
ID407821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acaa1b
Ensembl Gene ENSMUSG00000010651
Gene Nameacetyl-Coenzyme A acyltransferase 1B
Synonymsthiolase B
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03012
Quality Score
Status
Chromosome9
Chromosomal Location119148023-119157093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 119156946 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 17 (S17A)
Ref Sequence ENSEMBL: ENSMUSP00000010795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010795] [ENSMUST00000093527]
Predicted Effect probably benign
Transcript: ENSMUST00000010795
AA Change: S17A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000010795
Gene: ENSMUSG00000010651
AA Change: S17A

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 probably benign
Transcript: ENSMUST00000093527
SMART Domains Protein: ENSMUSP00000091246
Gene: ENSMUSG00000074029

DomainStartEndE-ValueType
Pfam:DUF3915 11 80 3.1e-10 PFAM
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp1 T G 12: 30,895,949 N135T probably benign Het
Adamts2 A G 11: 50,776,269 probably benign Het
Arfgef2 C T 2: 166,868,888 probably benign Het
Atp10b T A 11: 43,194,655 I287N probably damaging Het
Camta1 T A 4: 151,453,299 K141N probably damaging Het
Carmil1 T C 13: 24,036,372 D719G probably benign Het
Cntnap5c T A 17: 58,359,234 H1086Q probably benign Het
Dsg3 A G 18: 20,537,243 probably null Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
G6pd2 A G 5: 61,809,473 Y197C probably damaging Het
Il13ra1 G T X: 36,130,594 probably benign Het
Ivl G A 3: 92,572,426 P111S probably benign Het
Kmt2a T C 9: 44,810,966 probably benign Het
Lztr1 T C 16: 17,521,484 S57P possibly damaging Het
Mtss1 T G 15: 59,058,400 D32A probably damaging Het
Mylk G A 16: 34,952,781 D1250N probably benign Het
Ncln A G 10: 81,489,965 F349L probably benign Het
Pgap1 A G 1: 54,533,413 probably benign Het
Rarres2 T C 6: 48,570,305 D107G probably benign Het
Ric3 T C 7: 109,038,718 D276G probably benign Het
Trim54 A G 5: 31,137,145 D339G probably benign Het
Trip11 G A 12: 101,883,936 H1005Y probably damaging Het
Tulp4 G T 17: 6,213,379 probably benign Het
Unc93a C T 17: 13,109,608 E453K probably benign Het
Vmn1r181 A T 7: 23,984,602 D164V probably damaging Het
Vmn1r78 T A 7: 12,153,364 S301T probably benign Het
Vmn1r85 T C 7: 13,084,765 N151D probably benign Het
Wnk2 T C 13: 49,044,389 K2008E probably damaging Het
Wrap73 A G 4: 154,145,234 probably benign Het
Zfp408 G A 2: 91,647,808 A41V probably benign Het
Zfp472 A G 17: 32,977,571 S207G probably benign Het
Other mutations in Acaa1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0330:Acaa1b UTSW 9 119153970 missense probably damaging 1.00
R1036:Acaa1b UTSW 9 119150816 unclassified probably benign
R1916:Acaa1b UTSW 9 119156662 missense probably damaging 1.00
R3716:Acaa1b UTSW 9 119156641 missense probably benign 0.06
R4805:Acaa1b UTSW 9 119156946 missense probably benign 0.00
R5535:Acaa1b UTSW 9 119148406 missense probably damaging 1.00
R5732:Acaa1b UTSW 9 119148394 missense possibly damaging 0.81
R6883:Acaa1b UTSW 9 119156660 missense possibly damaging 0.86
R7298:Acaa1b UTSW 9 119151847 missense probably benign
R7330:Acaa1b UTSW 9 119148382 missense possibly damaging 0.71
Posted On2016-08-02