Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Baat'

506929

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

044438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49489422-49506557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49502836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 95 (D95E)

Ref Sequence

ENSEMBL: ENSMUSP00000129603 (fasta)

Gene Model

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

AlphaFold

Q91X34

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043056
AA Change: D95E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: D95E

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

possibly damaging
Transcript: ENSMUST00000166036
AA Change: D95E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: D95E

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

0.2934

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Pias2	T	C	18: 77,184,954 (GRCm39)	S5P	probably damaging	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	probably damaging	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
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
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
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'- TCACCTGGAGGCAGAAACAG -3'
(R):5'- CTTGTTGATGAGCCTGTGCAC -3'

Sequencing Primer
(F):5'- AGGCAGAAACAGGGCTCCC -3'
(R):5'- TGTGCACATCCAGGTCACAG -3'

Posted On

2018-03-15