Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Ugt2b5'

93038

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

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

87272819-87288177 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87287759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 136 (E136G)

Ref Sequence

ENSEMBL: ENSMUSP00000068282 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000067790
AA Change: E136G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000068282
Gene: ENSMUSG00000054630
AA Change: E136G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113327
AA Change: E147G

PolyPhen 2 Score 0.010 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108953
Gene: ENSMUSG00000054630
AA Change: E147G

Domain	Start	End	E-Value	Type
Pfam:UDPGT	35	538	1.3e-259	PFAM
Pfam:Glyco_tran_28_C	341	460	4.3e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Ugt2b5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Ugt2b5	APN	5	87,273,078 (GRCm39)	missense	probably benign	0.02
IGL00742:Ugt2b5	APN	5	87,275,673 (GRCm39)	missense	probably damaging	1.00
IGL01527:Ugt2b5	APN	5	87,284,068 (GRCm39)	missense	possibly damaging	0.71
IGL01530:Ugt2b5	APN	5	87,285,104 (GRCm39)	missense	probably benign	0.08
IGL02371:Ugt2b5	APN	5	87,275,535 (GRCm39)	critical splice donor site	probably null
IGL02993:Ugt2b5	APN	5	87,285,091 (GRCm39)	missense	probably damaging	1.00
IGL03114:Ugt2b5	APN	5	87,276,209 (GRCm39)	missense	probably damaging	1.00
R0372:Ugt2b5	UTSW	5	87,288,117 (GRCm39)	missense	probably benign	0.05
R0568:Ugt2b5	UTSW	5	87,285,224 (GRCm39)	critical splice acceptor site	probably benign
R0650:Ugt2b5	UTSW	5	87,287,627 (GRCm39)	missense	probably benign	0.00
R1660:Ugt2b5	UTSW	5	87,287,477 (GRCm39)	missense	probably benign	0.00
R1907:Ugt2b5	UTSW	5	87,287,489 (GRCm39)	missense	probably benign	0.19
R1955:Ugt2b5	UTSW	5	87,275,631 (GRCm39)	missense	probably benign	0.18
R2389:Ugt2b5	UTSW	5	87,275,541 (GRCm39)	missense	probably damaging	0.98
R2435:Ugt2b5	UTSW	5	87,287,465 (GRCm39)	missense	probably damaging	0.99
R2919:Ugt2b5	UTSW	5	87,273,266 (GRCm39)	missense	possibly damaging	0.83
R2920:Ugt2b5	UTSW	5	87,273,266 (GRCm39)	missense	possibly damaging	0.83
R4342:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4343:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4344:Ugt2b5	UTSW	5	87,287,582 (GRCm39)	missense	probably damaging	1.00
R4355:Ugt2b5	UTSW	5	87,287,622 (GRCm39)	nonsense	probably null
R4380:Ugt2b5	UTSW	5	87,275,753 (GRCm39)	missense	probably damaging	1.00
R4789:Ugt2b5	UTSW	5	87,287,550 (GRCm39)	missense	probably benign	0.14
R4993:Ugt2b5	UTSW	5	87,287,532 (GRCm39)	missense	probably benign	0.00
R5731:Ugt2b5	UTSW	5	87,288,111 (GRCm39)	nonsense	probably null
R6035:Ugt2b5	UTSW	5	87,287,541 (GRCm39)	missense	probably benign	0.09
R6035:Ugt2b5	UTSW	5	87,287,541 (GRCm39)	missense	probably benign	0.09
R6491:Ugt2b5	UTSW	5	87,273,328 (GRCm39)	nonsense	probably null
R7015:Ugt2b5	UTSW	5	87,287,655 (GRCm39)	missense	probably damaging	1.00
R7203:Ugt2b5	UTSW	5	87,276,258 (GRCm39)	missense	possibly damaging	0.72
R7212:Ugt2b5	UTSW	5	87,273,131 (GRCm39)	missense	probably benign	0.06
R7750:Ugt2b5	UTSW	5	87,288,108 (GRCm39)	missense	probably benign	0.11
R8384:Ugt2b5	UTSW	5	87,287,924 (GRCm39)	missense	probably benign
R8465:Ugt2b5	UTSW	5	87,287,518 (GRCm39)	missense	possibly damaging	0.79
R9336:Ugt2b5	UTSW	5	87,285,130 (GRCm39)	missense	probably benign	0.00
R9678:Ugt2b5	UTSW	5	87,273,186 (GRCm39)	missense	probably damaging	1.00
R9682:Ugt2b5	UTSW	5	87,287,522 (GRCm39)	missense	probably damaging	0.97
R9727:Ugt2b5	UTSW	5	87,288,165 (GRCm39)	start codon destroyed	probably damaging	0.97
X0004:Ugt2b5	UTSW	5	87,276,230 (GRCm39)	nonsense	probably null
X0021:Ugt2b5	UTSW	5	87,284,070 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-09