Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02795:Ugt2b1'

359927

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2b1

Ensembl Gene

ENSMUSG00000035836

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B1

Synonyms

1300012D20Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

86916638-86926530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86917701 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 493 (D493V)

Ref Sequence

ENSEMBL: ENSMUSP00000031183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031183]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031183
AA Change: D493V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: D493V

Domain	Start	End	E-Value	Type
Pfam:UDPGT	24	527	4.7e-260	PFAM
Pfam:Glyco_tran_28_C	343	454	1.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177553

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642		probably benign	Het
Acvr1	A	G	2: 58,462,952	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616		probably null	Het
Btnl9	A	T	11: 49,174,867		probably benign	Het
Dbx1	T	A	7: 49,636,577	I47F	probably benign	Het
Dnaja3	A	G	16: 4,690,073		probably benign	Het
Dnmt1	T	C	9: 20,927,111	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673		probably benign	Het
Gpr45	C	T	1: 43,032,493	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553		probably benign	Het
Kdelc2	A	G	9: 53,392,105	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894		probably null	Het
Lgr4	T	C	2: 110,008,210		probably benign	Het
Lrrc9	C	T	12: 72,478,768	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406		probably null	Het
Nectin1	A	G	9: 43,803,552	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490		probably benign	Het
Slc22a30	C	T	19: 8,400,895	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083	V255F	probably benign	Het
St5	T	C	7: 109,556,364	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389	E260D	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438	E273G	possibly damaging	Het

Other mutations in Ugt2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ugt2b1	APN	5	86925958	missense	probably benign	0.05
IGL00556:Ugt2b1	APN	5	86926196	missense	probably benign	0.00
IGL02591:Ugt2b1	APN	5	86917704	missense	probably damaging	1.00
IGL02993:Ugt2b1	APN	5	86921991	missense	possibly damaging	0.86
IGL03057:Ugt2b1	APN	5	86926341	missense	possibly damaging	0.59
IGL03084:Ugt2b1	APN	5	86926384	missense	probably benign	0.00
PIT4531001:Ugt2b1	UTSW	5	86926483	missense	probably benign	0.00
R0125:Ugt2b1	UTSW	5	86926102	missense	probably benign
R0480:Ugt2b1	UTSW	5	86926456	missense	probably benign	0.00
R0551:Ugt2b1	UTSW	5	86926084	missense	probably benign	0.01
R0601:Ugt2b1	UTSW	5	86917680	missense	possibly damaging	0.53
R0626:Ugt2b1	UTSW	5	86925861	missense	probably null	0.13
R1238:Ugt2b1	UTSW	5	86926129	missense	probably benign	0.00
R1623:Ugt2b1	UTSW	5	86926408	missense	probably benign	0.25
R1919:Ugt2b1	UTSW	5	86926000	missense	probably benign	0.00
R1930:Ugt2b1	UTSW	5	86917841	missense	probably damaging	1.00
R1931:Ugt2b1	UTSW	5	86917841	missense	probably damaging	1.00
R1955:Ugt2b1	UTSW	5	86917713	missense	probably damaging	1.00
R3973:Ugt2b1	UTSW	5	86917675	missense	probably benign	0.19
R3976:Ugt2b1	UTSW	5	86917675	missense	probably benign	0.19
R4115:Ugt2b1	UTSW	5	86926414	missense	probably damaging	0.99
R5018:Ugt2b1	UTSW	5	86925962	nonsense	probably null
R5043:Ugt2b1	UTSW	5	86917644	missense	possibly damaging	0.94
R5765:Ugt2b1	UTSW	5	86919406	missense	probably benign	0.32
R5959:Ugt2b1	UTSW	5	86925954	missense	probably benign	0.42
R5985:Ugt2b1	UTSW	5	86919668	missense	possibly damaging	0.56
R6791:Ugt2b1	UTSW	5	86919257	missense	probably damaging	1.00
R7380:Ugt2b1	UTSW	5	86917719	missense	not run
R7414:Ugt2b1	UTSW	5	86925834	missense	probably damaging	0.97
X0017:Ugt2b1	UTSW	5	86926329	missense	probably benign
X0027:Ugt2b1	UTSW	5	86925798	missense	probably benign	0.00

Posted On

2015-12-18