Incidental Mutation 'IGL00838:Baat'
ID 9184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Baat
Ensembl Gene ENSMUSG00000039653
Gene Name bile acid-Coenzyme A: amino acid N-acyltransferase
Synonyms taurine N-acyltransferase, BAT
Accession Numbers

Genbank: NM_007519; MGI: 106642

 
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00838
Quality Score
Status
Chromosome 4
Chromosomal Location 49489422-49506557 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49490352 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 244 (M244K)
Ref Sequence ENSEMBL: ENSMUSP00000129603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043056] [ENSMUST00000166036]
AlphaFold Q91X34
Predicted Effect probably damaging
Transcript: ENSMUST00000043056
AA Change: M244K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: M244K

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 13 145 1.7e-44 PFAM
low complexity region 149 162 N/A INTRINSIC
Pfam:BAAT_C 206 414 8.1e-77 PFAM
Pfam:DLH 285 412 5.5e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166036
AA Change: M244K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: M244K

DomainStartEndE-ValueType
Pfam:Bile_Hydr_Trans 14 144 5.1e-45 PFAM
low complexity region 149 162 N/A INTRINSIC
Pfam:BAAT_C 206 414 1.2e-77 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 C A 1: 93,402,757 N834K possibly damaging Het
Armc10 T A 5: 21,661,581 V281E probably damaging Het
Cryz T A 3: 154,618,475 C166S probably damaging Het
D430041D05Rik T A 2: 104,201,303 K1649N probably damaging Het
Dennd5b T C 6: 149,005,363 probably benign Het
Dock8 A T 19: 25,175,459 R1630* probably null Het
Gstm5 A G 3: 107,897,558 N122S probably benign Het
Klra5 C A 6: 129,911,359 G35C possibly damaging Het
Klrb1f G A 6: 129,054,316 V159I possibly damaging Het
Mgl2 A T 11: 70,134,212 M14L probably benign Het
Mob1a C T 6: 83,338,331 R78C possibly damaging Het
Pigo C T 4: 43,021,767 A392T possibly damaging Het
Polr3a A T 14: 24,475,863 N436K probably benign Het
Prokr1 T C 6: 87,588,693 T57A possibly damaging Het
Ror1 T G 4: 100,333,743 V99G probably damaging Het
Ryr2 A T 13: 11,568,503 I4755N probably damaging Het
Senp5 T C 16: 31,989,173 D394G probably damaging Het
Speg A G 1: 75,410,390 I1318V possibly damaging Het
Syt6 T A 3: 103,625,626 M357K probably damaging Het
Tex11 A T X: 100,972,118 I328N possibly damaging Het
Ttc37 T C 13: 76,134,791 L744P probably damaging Het
Vnn1 T C 10: 23,900,779 F343L possibly damaging Het
Wdr72 A T 9: 74,155,129 E519V probably damaging Het
Other mutations in Baat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Baat APN 4 49490391 missense possibly damaging 0.82
IGL01327:Baat APN 4 49490338 missense probably damaging 1.00
IGL02394:Baat APN 4 49489812 unclassified probably benign
IGL03267:Baat APN 4 49490050 missense probably benign 0.00
R0085:Baat UTSW 4 49490425 splice site probably benign
R1467:Baat UTSW 4 49503101 missense probably benign
R1467:Baat UTSW 4 49503101 missense probably benign
R1720:Baat UTSW 4 49490231 missense probably benign
R2309:Baat UTSW 4 49499718 missense probably damaging 1.00
R2992:Baat UTSW 4 49499675 nonsense probably null
R4383:Baat UTSW 4 49499731 missense probably damaging 1.00
R4602:Baat UTSW 4 49502727 missense probably damaging 1.00
R5190:Baat UTSW 4 49499652 missense probably damaging 1.00
R5259:Baat UTSW 4 49490070 missense probably benign 0.08
R5456:Baat UTSW 4 49502949 missense possibly damaging 0.91
R5988:Baat UTSW 4 49502871 missense probably damaging 1.00
R6265:Baat UTSW 4 49502836 missense possibly damaging 0.94
R7091:Baat UTSW 4 49499692 missense probably benign 0.00
R7209:Baat UTSW 4 49503065 missense probably damaging 1.00
R7295:Baat UTSW 4 49490275 missense probably damaging 1.00
R7325:Baat UTSW 4 49490213 missense probably benign 0.07
R7805:Baat UTSW 4 49490327 missense probably benign 0.00
R7867:Baat UTSW 4 49502925 missense probably benign 0.44
R7956:Baat UTSW 4 49490117 missense probably damaging 1.00
R9367:Baat UTSW 4 49503008 missense probably damaging 1.00
Posted On 2012-12-06