Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Baat'

550201

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

MMRRC Submission

Accession Numbers

Genbank: NM_007519; MGI: 106642

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49489422-49506557 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49499692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 205 (K205E)

Ref Sequence

ENSEMBL: ENSMUSP00000041983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043056] [ENSMUST00000166036]

AlphaFold

Q91X34

Predicted Effect

probably benign
Transcript: ENSMUST00000043056
AA Change: K205E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: K205E

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000166036
AA Change: K205E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: K205E

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	C	A	7: 127,384,362	A523S	possibly damaging	Het
Abhd18	A	C	3: 40,916,738	I111L	probably damaging	Het
Ank1	A	G	8: 23,058,663	D11G	probably benign	Het
Ank2	G	T	3: 127,023,351	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,313,334	L520H	probably damaging	Het
Brca1	T	A	11: 101,526,427	M294L	probably benign	Het
Capn1	A	G	19: 5,991,556	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,940,806	D377E	probably benign	Het
Col6a2	C	T	10: 76,615,091	V39I	unknown	Het
Crybg3	T	A	16: 59,557,168	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,816,142	K3380R	probably benign	Het
Eml5	T	C	12: 98,802,474	I1400M	probably benign	Het
Fancd2	A	G	6: 113,545,101	D219G	probably damaging	Het
Fras1	A	G	5: 96,708,676	S1973G	probably benign	Het
Fsd1	G	A	17: 55,993,876	R245H	probably damaging	Het
G3bp1	T	A	11: 55,496,221	H271Q	possibly damaging	Het
Glce	A	G	9: 62,060,588	V427A	probably damaging	Het
Gm4778	T	C	3: 94,266,638	F314L	probably damaging	Het
Gm5141	T	C	13: 62,773,964	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,766,134	F128I	probably damaging	Het
H2-Bl	T	C	17: 36,083,941	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,130,914	L393W	probably damaging	Het
Heg1	T	C	16: 33,726,720	S650P	probably benign	Het
Hspa4l	T	A	3: 40,781,592	N569K	probably benign	Het
Ifi206	A	G	1: 173,473,875	F746L	unknown	Het
Ivl	T	C	3: 92,572,242	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,630,184	D433E	probably damaging	Het
Mgam	T	C	6: 40,768,276	S1826P	possibly damaging	Het
Ms4a18	A	T	19: 11,008,728	L206M	probably damaging	Het
Msln	A	T	17: 25,750,080	C444S	probably damaging	Het
Mta1	A	G	12: 113,136,402	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,809,687		probably benign	Het
Naa15	T	C	3: 51,458,756		probably null	Het
Nadk	A	G	4: 155,587,758	H302R	probably benign	Het
Neb	T	A	2: 52,256,112	N15I		Het
Nup153	A	T	13: 46,683,928	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,072,767	I763T	probably damaging	Het
Olfr142	T	C	2: 90,252,463	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,284,661	I107V	probably benign	Het
Prmt5	A	G	14: 54,511,342		probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,812,716	S79P	probably damaging	Het
Reln	T	C	5: 21,899,029	I3315V	probably null	Het
Rnf223	T	C	4: 156,132,699	V177A	probably benign	Het
Slc20a1	C	T	2: 129,208,272	T450M	possibly damaging	Het
Smg5	C	T	3: 88,351,347	P542S	probably benign	Het
Sorl1	T	A	9: 42,002,634	Q1333L	probably benign	Het
Spag5	T	A	11: 78,313,191		probably null	Het
Tdp2	T	A	13: 24,838,224	F209I	probably damaging	Het
Tgm4	C	A	9: 123,040,460	L35M	probably damaging	Het
Tma7	A	G	9: 109,082,512		probably benign	Het
Tmprss4	A	T	9: 45,184,273	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,395,697	M39K	probably benign	Het
Ttn	T	A	2: 76,713,568	T33025S	probably benign	Het
Tut1	A	G	19: 8,965,811	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,223,945	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,462,002	G353V	probably benign	Het
Zfp879	T	A	11: 50,833,395	H278L	probably damaging	Het

Other mutations in Baat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Baat	APN	4	49490352	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTTGGGAATTGGGCTGCAA -3'
(R):5'- CACCTATCCTCCTGAGACCTCAC -3'

Sequencing Primer
(F):5'- ATTGGGCTGCAAACTGTAAGTC -3'
(R):5'- TTTCTTCTCCAGGGACACGGAAG -3'

Posted On

2019-05-15