Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02371:Ugt2b5'

290946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2b5

Ensembl Gene

ENSMUSG00000054630

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B5

Synonyms

Udpgt-3, m-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02371

Quality Score

Status

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 87127676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067790]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000067790

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	527	7.9e-256	PFAM
Pfam:Glyco_tran_28_C	352	449	5.3e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	T	C	10: 18,646,539	T580A	probably benign	Het
Casp2	T	A	6: 42,267,968	D100E	probably benign	Het
Cd1d1	C	A	3: 86,998,881	R29L	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cyct	A	G	2: 76,354,090	*106R	probably null	Het
Enam	A	G	5: 88,502,809	I726V	probably benign	Het
Epha3	T	G	16: 63,585,020		probably null	Het
Erbb4	T	C	1: 68,290,294	D632G	probably benign	Het
Fam217a	T	C	13: 34,911,401	N125S	possibly damaging	Het
Fbxo32	A	T	15: 58,181,464		probably benign	Het
Foxa1	T	C	12: 57,542,700	T245A	probably damaging	Het
Gars	T	C	6: 55,065,467	V395A	probably benign	Het
Gimap5	A	T	6: 48,753,003	N169I	probably damaging	Het
Itgav	A	G	2: 83,770,053	M266V	probably damaging	Het
Klhl14	G	A	18: 21,652,181	S63F	probably damaging	Het
Lpp	G	A	16: 24,761,611	A26T	probably damaging	Het
Lrrc17	T	C	5: 21,560,996	Y159H	probably damaging	Het
Lzts1	A	T	8: 69,138,798	S233T	probably damaging	Het
Mdn1	T	C	4: 32,676,860		probably benign	Het
Nrf1	A	T	6: 30,118,991	I382F	possibly damaging	Het
Olfr1287	A	G	2: 111,450,009	R290G	probably damaging	Het
Olfr24	G	T	9: 18,754,704	S310R	probably benign	Het
Olfr266	A	T	3: 106,822,046	F171Y	probably damaging	Het
Pde9a	T	A	17: 31,420,285	V63D	possibly damaging	Het
Plcg1	T	A	2: 160,753,507	N484K	probably damaging	Het
Plekhg4	T	A	8: 105,379,059		probably null	Het
Pot1b	A	G	17: 55,695,092	Y161H	possibly damaging	Het
Ptchd4	G	A	17: 42,316,974	G109S	possibly damaging	Het
Rad51ap1	T	C	6: 126,927,564	N119S	probably benign	Het
Rbm22	C	T	18: 60,571,956		probably benign	Het
Stk36	T	A	1: 74,622,255	S480R	probably benign	Het

Other mutations in Ugt2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ugt2b5	APN	5	87125219	missense	probably benign	0.02
IGL00742:Ugt2b5	APN	5	87127814	missense	probably damaging	1.00
IGL01527:Ugt2b5	APN	5	87136209	missense	possibly damaging	0.71
IGL01530:Ugt2b5	APN	5	87137245	missense	probably benign	0.08
IGL01637:Ugt2b5	APN	5	87139900	missense	probably benign	0.04
IGL02993:Ugt2b5	APN	5	87137232	missense	probably damaging	1.00
IGL03114:Ugt2b5	APN	5	87128350	missense	probably damaging	1.00
R0372:Ugt2b5	UTSW	5	87140258	missense	probably benign	0.05
R0568:Ugt2b5	UTSW	5	87137365	critical splice acceptor site	probably benign
R0650:Ugt2b5	UTSW	5	87139768	missense	probably benign	0.00
R1660:Ugt2b5	UTSW	5	87139618	missense	probably benign	0.00
R1907:Ugt2b5	UTSW	5	87139630	missense	probably benign	0.19
R1955:Ugt2b5	UTSW	5	87127772	missense	probably benign	0.18
R2389:Ugt2b5	UTSW	5	87127682	missense	probably damaging	0.98
R2435:Ugt2b5	UTSW	5	87139606	missense	probably damaging	0.99
R2919:Ugt2b5	UTSW	5	87125407	missense	possibly damaging	0.83
R2920:Ugt2b5	UTSW	5	87125407	missense	possibly damaging	0.83
R4342:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4343:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4344:Ugt2b5	UTSW	5	87139723	missense	probably damaging	1.00
R4355:Ugt2b5	UTSW	5	87139763	nonsense	probably null
R4380:Ugt2b5	UTSW	5	87127894	missense	probably damaging	1.00
R4789:Ugt2b5	UTSW	5	87139691	missense	probably benign	0.14
R4993:Ugt2b5	UTSW	5	87139673	missense	probably benign	0.00
R5731:Ugt2b5	UTSW	5	87140252	nonsense	probably null
R6035:Ugt2b5	UTSW	5	87139682	missense	probably benign	0.09
R6035:Ugt2b5	UTSW	5	87139682	missense	probably benign	0.09
R6491:Ugt2b5	UTSW	5	87125469	nonsense	probably null
R7015:Ugt2b5	UTSW	5	87139796	missense	probably damaging	1.00
R7203:Ugt2b5	UTSW	5	87128399	missense	possibly damaging	0.72
R7212:Ugt2b5	UTSW	5	87125272	missense	probably benign	0.06
R7750:Ugt2b5	UTSW	5	87140249	missense	probably benign	0.11
R8384:Ugt2b5	UTSW	5	87140065	missense	probably benign
R8465:Ugt2b5	UTSW	5	87139659	missense	possibly damaging	0.79
R9336:Ugt2b5	UTSW	5	87137271	missense	probably benign	0.00
X0004:Ugt2b5	UTSW	5	87128371	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87136211	missense	possibly damaging	0.95

Posted On

2015-04-16