Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Baat'

19842

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

038372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0085 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

49489422-49506557 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 49490425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129603 (fasta)

Gene Model

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

AlphaFold

Q91X34

Predicted Effect

probably benign
Transcript: ENSMUST00000043056

SMART Domains

Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653

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

SMART Domains

Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,742,357 (GRCm39)	I417T	possibly damaging	Het
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bpi	T	A	2: 158,115,072 (GRCm39)	L311*	probably null	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Carmil1	T	A	13: 24,209,850 (GRCm39)	E804D	probably benign	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Piezo1	A	G	8: 123,228,354 (GRCm39)	L310P	probably damaging	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Pnma8b	A	T	7: 16,679,474 (GRCm39)	S153C	unknown	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	Het

Other mutations in Baat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R2992:Baat	UTSW	4	49,499,675 (GRCm39)	nonsense	probably null
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'- TCCCAAGGCATTGGTGACTACAAAC -3'
(R):5'- TCATTTGCTCTGTGGTGACTGAACC -3'

Sequencing Primer
(F):5'- GGCATTGGTGACTACAAACTCTTC -3'
(R):5'- gcttcaccacagttctgtatttc -3'

Posted On

2013-04-11