Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00556:Ugt2b1'

6415

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: 0.081) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

86916638-86926530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86926196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 101 (L101F)

Ref Sequence

ENSEMBL: ENSMUSP00000031183 (fasta)

Gene Model

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

AlphaFold

Q8R084

Predicted Effect

probably benign
Transcript: ENSMUST00000031183
AA Change: L101F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031183
Gene: ENSMUSG00000035836
AA Change: L101F

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: ENSMUST00000102029

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Ugt2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ugt2b1	APN	5	86925958	missense	probably benign	0.05
IGL02591:Ugt2b1	APN	5	86917704	missense	probably damaging	1.00
IGL02795:Ugt2b1	APN	5	86917701	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
R8519:Ugt2b1	UTSW	5	86926467	missense	probably damaging	0.99
R9473:Ugt2b1	UTSW	5	86917680	missense	possibly damaging	0.53
R9540:Ugt2b1	UTSW	5	86921912	missense	possibly damaging	0.94
X0017:Ugt2b1	UTSW	5	86926329	missense	probably benign
X0027:Ugt2b1	UTSW	5	86925798	missense	probably benign	0.00

Posted On

2012-04-20