Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Ugt2b5'

407015

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: 0.070) question?

Stock #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

87124960-87140318 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87137232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 282 (H282P)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067790
AA Change: H282P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: H282P

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,719	Y351H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,573	T537A	probably benign	Het
Abcd3	A	C	3: 121,774,010	I434S	probably benign	Het
Actr2	C	T	11: 20,072,514	R319Q	probably damaging	Het
Atp13a5	G	T	16: 29,293,504	Y606*	probably null	Het
Baiap3	C	T	17: 25,250,082		probably null	Het
Cers2	A	G	3: 95,320,085	Y8C	probably benign	Het
Ces1g	T	A	8: 93,317,079	M411L	probably benign	Het
Chd6	A	G	2: 161,052,384		probably benign	Het
Cyp2d40	C	A	15: 82,761,521	K94N	probably benign	Het
Ddx51	T	C	5: 110,655,621	V323A	possibly damaging	Het
Dock1	G	A	7: 134,744,298	V190I	probably benign	Het
Evc2	A	G	5: 37,419,157	T1042A	probably benign	Het
Fat4	T	A	3: 38,957,155	S2135T	probably damaging	Het
Gpat2	T	C	2: 127,427,566	F46S	probably damaging	Het
Klhl38	T	A	15: 58,322,455	K293*	probably null	Het
Map4k4	T	C	1: 40,014,188	I916T	probably damaging	Het
Nrap	T	A	19: 56,345,533	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,699,334		probably null	Het
Perm1	A	G	4: 156,217,779	Q260R	probably benign	Het
Ralgapb	T	A	2: 158,437,394	N133K	possibly damaging	Het
Slfn9	T	C	11: 82,981,196	S905G	probably benign	Het
Ssh2	C	T	11: 77,453,544	T785I	probably damaging	Het
Stk16	C	A	1: 75,213,004	Q69K	probably damaging	Het
Stk36	T	C	1: 74,622,287	L491P	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tcp11	T	C	17: 28,070,516	N194D	probably damaging	Het
Trio	C	A	15: 27,830,239		probably benign	Het
Ugt2b1	A	G	5: 86,921,991	V297A	possibly damaging	Het
Usp53	A	G	3: 122,933,843	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,229,703	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,428,074	T223S	probably benign	Het
Wdr20	G	T	12: 110,794,308	E543*	probably null	Het
Zbtb25	T	A	12: 76,349,417	N344Y	probably damaging	Het
Zcchc2	T	C	1: 106,030,168	F790L	probably damaging	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
IGL02371:Ugt2b5	APN	5	87127676	critical splice donor site	probably null
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

2016-08-02