Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

87064498-87074362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87065560 bp (GRCm39)

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]

AlphaFold

Q8R084

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: 71,327,907 (GRCm39)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,252,468 (GRCm39)		probably benign	Het
Acvr1	A	G	2: 58,352,964 (GRCm39)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,271,191 (GRCm39)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,644,786 (GRCm39)		probably null	Het
Btnl9	A	T	11: 49,065,694 (GRCm39)		probably benign	Het
Dbx1	T	A	7: 49,286,325 (GRCm39)	I47F	probably benign	Het
Dennd2b	T	C	7: 109,155,571 (GRCm39)	Y393C	probably damaging	Het
Dnaja3	A	G	16: 4,507,937 (GRCm39)		probably benign	Het
Dnmt1	T	C	9: 20,838,407 (GRCm39)	S220G	probably benign	Het
Dock9	A	T	14: 121,877,390 (GRCm39)	M451K	probably benign	Het
Eml3	A	G	19: 8,911,142 (GRCm39)	Y257C	probably benign	Het
Fam3d	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Fbxw19	C	A	9: 109,324,886 (GRCm39)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Galnt5	C	A	2: 57,917,883 (GRCm39)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm39)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,867,484 (GRCm39)		probably benign	Het
Gpr45	C	T	1: 43,071,653 (GRCm39)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,497,102 (GRCm39)	S302L	probably damaging	Het
Hrg	T	C	16: 22,776,303 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,045,889 (GRCm39)		probably null	Het
Lgr4	T	C	2: 109,838,555 (GRCm39)		probably benign	Het
Lrrc9	C	T	12: 72,525,542 (GRCm39)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mms19	C	T	19: 41,940,845 (GRCm39)		probably null	Het
Nectin1	A	G	9: 43,714,849 (GRCm39)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,783,149 (GRCm39)	H87N	probably damaging	Het
Or1e17	G	A	11: 73,831,755 (GRCm39)	V228I	probably benign	Het
Or2ah1	T	A	2: 85,653,856 (GRCm39)	C180*	probably null	Het
Or4b13	A	G	2: 90,082,906 (GRCm39)	L142P	probably damaging	Het
Or52a20	T	A	7: 103,366,090 (GRCm39)	F96L	probably benign	Het
Or5h17	G	T	16: 58,820,640 (GRCm39)	L197F	possibly damaging	Het
Pcsk1	G	T	13: 75,260,739 (GRCm39)	G321C	probably damaging	Het
Poglut3	A	G	9: 53,303,405 (GRCm39)	D99G	probably damaging	Het
Prrc2c	G	T	1: 162,541,868 (GRCm39)	P374T	probably benign	Het
Rusc1	A	T	3: 88,999,257 (GRCm39)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,610,076 (GRCm39)	N4250S	probably benign	Het
Scara5	A	C	14: 65,968,129 (GRCm39)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,857,447 (GRCm39)	K595R	probably benign	Het
Serpinb6a	A	C	13: 34,115,576 (GRCm39)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,234,684 (GRCm39)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,262,922 (GRCm39)		probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,958,003 (GRCm39)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,395,782 (GRCm39)	D611V	probably benign	Het
Spag6	G	T	2: 18,737,894 (GRCm39)	V255F	probably benign	Het
Svep1	C	A	4: 58,123,223 (GRCm39)	G698W	probably damaging	Het
Syne2	T	C	12: 76,013,323 (GRCm39)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,373,524 (GRCm39)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,896,324 (GRCm39)	E260D	probably damaging	Het
Vmn1r27	A	G	6: 58,192,287 (GRCm39)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,305,539 (GRCm39)	Q74R	probably benign	Het
Vps25	A	G	11: 101,146,916 (GRCm39)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,339,480 (GRCm39)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,970,505 (GRCm39)	E273G	possibly damaging	Het

Other mutations in Ugt2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Ugt2b1	APN	5	87,073,817 (GRCm39)	missense	probably benign	0.05
IGL00556:Ugt2b1	APN	5	87,074,055 (GRCm39)	missense	probably benign	0.00
IGL02591:Ugt2b1	APN	5	87,065,563 (GRCm39)	missense	probably damaging	1.00
IGL02993:Ugt2b1	APN	5	87,069,850 (GRCm39)	missense	possibly damaging	0.86
IGL03057:Ugt2b1	APN	5	87,074,200 (GRCm39)	missense	possibly damaging	0.59
IGL03084:Ugt2b1	APN	5	87,074,243 (GRCm39)	missense	probably benign	0.00
PIT4531001:Ugt2b1	UTSW	5	87,074,342 (GRCm39)	missense	probably benign	0.00
R0125:Ugt2b1	UTSW	5	87,073,961 (GRCm39)	missense	probably benign
R0480:Ugt2b1	UTSW	5	87,074,315 (GRCm39)	missense	probably benign	0.00
R0551:Ugt2b1	UTSW	5	87,073,943 (GRCm39)	missense	probably benign	0.01
R0601:Ugt2b1	UTSW	5	87,065,539 (GRCm39)	missense	possibly damaging	0.53
R0626:Ugt2b1	UTSW	5	87,073,720 (GRCm39)	missense	probably null	0.13
R1238:Ugt2b1	UTSW	5	87,073,988 (GRCm39)	missense	probably benign	0.00
R1623:Ugt2b1	UTSW	5	87,074,267 (GRCm39)	missense	probably benign	0.25
R1919:Ugt2b1	UTSW	5	87,073,859 (GRCm39)	missense	probably benign	0.00
R1930:Ugt2b1	UTSW	5	87,065,700 (GRCm39)	missense	probably damaging	1.00
R1931:Ugt2b1	UTSW	5	87,065,700 (GRCm39)	missense	probably damaging	1.00
R1955:Ugt2b1	UTSW	5	87,065,572 (GRCm39)	missense	probably damaging	1.00
R3973:Ugt2b1	UTSW	5	87,065,534 (GRCm39)	missense	probably benign	0.19
R3976:Ugt2b1	UTSW	5	87,065,534 (GRCm39)	missense	probably benign	0.19
R4115:Ugt2b1	UTSW	5	87,074,273 (GRCm39)	missense	probably damaging	0.99
R5018:Ugt2b1	UTSW	5	87,073,821 (GRCm39)	nonsense	probably null
R5043:Ugt2b1	UTSW	5	87,065,503 (GRCm39)	missense	possibly damaging	0.94
R5765:Ugt2b1	UTSW	5	87,067,265 (GRCm39)	missense	probably benign	0.32
R5959:Ugt2b1	UTSW	5	87,073,813 (GRCm39)	missense	probably benign	0.42
R5985:Ugt2b1	UTSW	5	87,067,527 (GRCm39)	missense	possibly damaging	0.56
R6791:Ugt2b1	UTSW	5	87,067,116 (GRCm39)	missense	probably damaging	1.00
R7380:Ugt2b1	UTSW	5	87,065,578 (GRCm39)	missense	not run
R7414:Ugt2b1	UTSW	5	87,073,693 (GRCm39)	missense	probably damaging	0.97
R8519:Ugt2b1	UTSW	5	87,074,326 (GRCm39)	missense	probably damaging	0.99
R9473:Ugt2b1	UTSW	5	87,065,539 (GRCm39)	missense	possibly damaging	0.53
R9540:Ugt2b1	UTSW	5	87,069,771 (GRCm39)	missense	possibly damaging	0.94
X0017:Ugt2b1	UTSW	5	87,074,188 (GRCm39)	missense	probably benign
X0027:Ugt2b1	UTSW	5	87,073,657 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18