Incidental Mutation 'R2992:Baat'
ID 257934
Institutional Source Beutler Lab
Gene Symbol Baat
Ensembl Gene ENSMUSG00000039653
Gene Name bile acid-Coenzyme A: amino acid N-acyltransferase
Synonyms taurine N-acyltransferase, BAT
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2992 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 49489422-49506557 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 49499675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 210 (Y210*)
Ref Sequence ENSEMBL: ENSMUSP00000129603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043056] [ENSMUST00000166036]
AlphaFold Q91X34
Predicted Effect probably null
Transcript: ENSMUST00000043056
AA Change: Y210*
SMART Domains Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: Y210*

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 null
Transcript: ENSMUST00000166036
AA Change: Y210*
SMART Domains Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: Y210*

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep295 T A 9: 15,244,043 (GRCm39) K1471I probably damaging Het
Cpne4 A T 9: 104,899,564 (GRCm39) I416F probably damaging Het
Cul7 C G 17: 46,962,526 (GRCm39) D52E probably benign Het
Isg20 C T 7: 78,569,632 (GRCm39) A201V probably benign Het
Kdm6b ACTGCTGCTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTGCTGCTG 11: 69,297,133 (GRCm39) probably benign Het
Mmp16 G T 4: 18,011,657 (GRCm39) G191C probably damaging Het
Or51aa5 C T 7: 103,166,977 (GRCm39) V205M probably damaging Het
Or6c2b C A 10: 128,947,404 (GRCm39) E297* probably null Het
Or9m2 T C 2: 87,821,121 (GRCm39) V222A probably benign Het
Patl2 T C 2: 121,956,235 (GRCm39) S210G probably damaging Het
Plekha6 T C 1: 133,222,396 (GRCm39) I994T probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rhobtb2 A G 14: 70,035,772 (GRCm39) S100P probably damaging Het
Snx13 T C 12: 35,155,190 (GRCm39) L418P probably damaging Het
Spink5 A C 18: 44,129,696 (GRCm39) E429A probably damaging Het
Other mutations in Baat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Baat APN 4 49,490,352 (GRCm39) missense probably damaging 1.00
IGL01124:Baat APN 4 49,490,391 (GRCm39) missense possibly damaging 0.82
IGL01327:Baat APN 4 49,490,338 (GRCm39) missense probably damaging 1.00
IGL02394:Baat APN 4 49,489,812 (GRCm39) unclassified probably benign
IGL03267:Baat APN 4 49,490,050 (GRCm39) missense probably benign 0.00
R0085:Baat UTSW 4 49,490,425 (GRCm39) splice site probably benign
R1467:Baat UTSW 4 49,503,101 (GRCm39) missense probably benign
R1467:Baat UTSW 4 49,503,101 (GRCm39) missense probably benign
R1720:Baat UTSW 4 49,490,231 (GRCm39) missense probably benign
R2309:Baat UTSW 4 49,499,718 (GRCm39) missense probably damaging 1.00
R4383:Baat UTSW 4 49,499,731 (GRCm39) missense probably damaging 1.00
R4602:Baat UTSW 4 49,502,727 (GRCm39) missense probably damaging 1.00
R5190:Baat UTSW 4 49,499,652 (GRCm39) missense probably damaging 1.00
R5259:Baat UTSW 4 49,490,070 (GRCm39) missense probably benign 0.08
R5456:Baat UTSW 4 49,502,949 (GRCm39) missense possibly damaging 0.91
R5988:Baat UTSW 4 49,502,871 (GRCm39) missense probably damaging 1.00
R6265:Baat UTSW 4 49,502,836 (GRCm39) missense possibly damaging 0.94
R7091:Baat UTSW 4 49,499,692 (GRCm39) missense probably benign 0.00
R7209:Baat UTSW 4 49,503,065 (GRCm39) missense probably damaging 1.00
R7295:Baat UTSW 4 49,490,275 (GRCm39) missense probably damaging 1.00
R7325:Baat UTSW 4 49,490,213 (GRCm39) missense probably benign 0.07
R7805:Baat UTSW 4 49,490,327 (GRCm39) missense probably benign 0.00
R7867:Baat UTSW 4 49,502,925 (GRCm39) missense probably benign 0.44
R7956:Baat UTSW 4 49,490,117 (GRCm39) missense probably damaging 1.00
R9367:Baat UTSW 4 49,503,008 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCAGATTAAAGGTGTGGTG -3'
(R):5'- GCCAATTGGGGAACAGGGC -3'

Sequencing Primer
(F):5'- CAGCTACTACTGAACCATTGTTGGG -3'
(R):5'- GGAACAGGGCCTTAGCATC -3'
Posted On 2015-01-11