Mutagenetix > Incidental Mutations

Incidental Mutation 'R0063:Uggt2'

16379

Institutional Source

Beutler Lab

Gene Symbol

Uggt2

Ensembl Gene

ENSMUSG00000042104

Gene Name

UDP-glucose glycoprotein glucosyltransferase 2

Synonyms

3110001A05Rik, 3110027P15Rik, 1810064L21Rik, Ugcgl2, A230065J02Rik

MMRRC Submission

038355-MU

Accession Numbers

NCBI RefSeq: NM_001081252.2; MGI:1913685

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0063 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

118985039-119099430 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 119007130 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000156203]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126023

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154130

Predicted Effect

probably benign
Transcript: ENSMUST00000156203

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDP-g_GGTase	23	1189	N/A	PFAM
SCOP:d1ga8a_	1219	1485	9e-44	SMART
Blast:BROMO	1377	1427	4e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173391

SMART Domains

Protein: ENSMUSP00000133772
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	2	63	9.4e-18	PFAM
SCOP:d1ga8a_	77	216	3e-21	SMART

Coding Region Coverage

1x: 89.1%
3x: 86.1%
10x: 78.0%
20x: 64.7%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,861,048	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,096,028		probably benign	Het
9330182L06Rik	T	C	5: 9,440,709		probably benign	Het
Acss1	T	C	2: 150,627,292	T435A	probably damaging	Het
Aoc2	T	A	11: 101,326,071	S327T	probably damaging	Het
Arid5a	T	A	1: 36,318,564	Y252N	probably damaging	Het
AU040320	T	C	4: 126,839,672	Y662H	probably damaging	Het
Bcam	C	T	7: 19,766,848	V134I	probably benign	Het
Btbd16	A	T	7: 130,823,166	T426S	probably benign	Het
Cap2	T	C	13: 46,638,032		probably benign	Het
Capn8	T	A	1: 182,602,112	D299E	probably damaging	Het
Cdipt	G	A	7: 126,979,600	V160I	probably benign	Het
Cyb5r3	T	C	15: 83,161,936	T60A	probably benign	Het
Dazl	T	C	17: 152,705,859	T212A	probably damaging	Het
Dgkb	T	G	12: 38,604,113	S744A	probably benign	Het
Dock2	T	A	11: 34,756,284		probably null	Het
Ece2	A	G	16: 20,642,317	T442A	probably benign	Het
Emid1	A	T	11: 5,139,704		probably benign	Het
Eml3	C	A	19: 8,938,478	A644D	probably damaging	Het
Foxp1	A	G	6: 98,944,723		probably benign	Het
Ints8	T	C	4: 11,252,857	N75S	probably damaging	Het
Irs1	T	A	1: 82,288,859	E545D	probably damaging	Het
Lama3	T	C	18: 12,528,705		probably benign	Het
Nat8f2	A	T	6: 85,867,833	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,550,028	V343F	possibly damaging	Het
Pdk2	T	C	11: 95,032,480	H106R	probably benign	Het
Pkhd1	G	A	1: 20,211,950	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,529,237	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,644,939	T394S	probably benign	Het
Pnpla8	T	A	12: 44,282,832	C56S	probably damaging	Het
Prdm8	G	T	5: 98,184,594	R118L	probably damaging	Het
Prkce	T	C	17: 86,482,111		probably benign	Het
Ptprk	T	A	10: 28,263,767	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,734,557		probably benign	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Slc2a2	T	C	3: 28,717,440	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,979,999		probably null	Het
Tmem131	C	T	1: 36,819,128	V713I	probably benign	Het
Tmem89	A	G	9: 108,914,812	N60S	probably benign	Het
Trio	G	T	15: 27,881,437		probably benign	Het
Tulp2	T	C	7: 45,520,860		probably benign	Het
Vwa8	A	G	14: 79,164,216		probably benign	Het
Xirp2	A	G	2: 67,509,083	D556G	probably damaging	Het
Xrn1	T	C	9: 95,969,535	L202P	probably damaging	Het
Zfp354a	A	T	11: 51,069,571	H203L	probably damaging	Het

Other mutations in Uggt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Uggt2	APN	14	119049276	missense	possibly damaging	0.94
IGL00430:Uggt2	APN	14	119026429	nonsense	probably null
IGL00433:Uggt2	APN	14	119013487	missense	probably benign
IGL00572:Uggt2	APN	14	119042791	missense	probably benign	0.02
IGL00577:Uggt2	APN	14	119034900	missense	possibly damaging	0.89
IGL00671:Uggt2	APN	14	119042799	missense	possibly damaging	0.73
IGL01482:Uggt2	APN	14	119057645	missense	probably damaging	1.00
IGL01630:Uggt2	APN	14	119042772	missense	probably benign	0.00
IGL01787:Uggt2	APN	14	119081734	missense	probably damaging	0.99
IGL02063:Uggt2	APN	14	119089193	missense	possibly damaging	0.79
IGL02809:Uggt2	APN	14	119090738	missense	probably benign	0.17
IGL02894:Uggt2	APN	14	119081799	missense	probably damaging	0.96
IGL03062:Uggt2	APN	14	119075346	missense	probably damaging	1.00
IGL03139:Uggt2	APN	14	119095310	missense	probably benign	0.25
IGL03142:Uggt2	APN	14	118998191	missense	probably damaging	1.00
IGL03168:Uggt2	APN	14	119077668	missense	probably damaging	0.98
IGL03348:Uggt2	APN	14	119070888	missense	probably benign	0.38
P0014:Uggt2	UTSW	14	119044538	missense	probably damaging	1.00
R0006:Uggt2	UTSW	14	119049663	missense	probably benign	0.07
R0063:Uggt2	UTSW	14	119007130	splice site	probably benign
R0383:Uggt2	UTSW	14	119049451	missense	probably damaging	1.00
R0433:Uggt2	UTSW	14	119075329	critical splice donor site	probably null
R0472:Uggt2	UTSW	14	119095336	missense	probably damaging	1.00
R0609:Uggt2	UTSW	14	119095336	missense	probably damaging	1.00
R0645:Uggt2	UTSW	14	119057598	missense	probably benign	0.27
R0788:Uggt2	UTSW	14	119095400	splice site	probably benign
R0940:Uggt2	UTSW	14	119091192	critical splice donor site	probably null
R1567:Uggt2	UTSW	14	119009093	missense	possibly damaging	0.58
R1627:Uggt2	UTSW	14	119057663	missense	possibly damaging	0.95
R1682:Uggt2	UTSW	14	119054643	missense	probably benign	0.19
R1746:Uggt2	UTSW	14	119013503	missense	probably benign	0.00
R1785:Uggt2	UTSW	14	119061376	missense	probably damaging	1.00
R1786:Uggt2	UTSW	14	119061376	missense	probably damaging	1.00
R1799:Uggt2	UTSW	14	119032276	missense	probably benign	0.00
R1894:Uggt2	UTSW	14	119049718	missense	probably damaging	0.99
R1918:Uggt2	UTSW	14	119008055	splice site	probably benign
R2149:Uggt2	UTSW	14	119075345	missense	probably benign	0.02
R2168:Uggt2	UTSW	14	119019505	missense	probably damaging	1.00
R2219:Uggt2	UTSW	14	119075337	missense	probably damaging	1.00
R2220:Uggt2	UTSW	14	119075337	missense	probably damaging	1.00
R2240:Uggt2	UTSW	14	118995049	missense	probably damaging	1.00
R2331:Uggt2	UTSW	14	119026599	missense	possibly damaging	0.87
R2904:Uggt2	UTSW	14	119059109	missense	possibly damaging	0.74
R2906:Uggt2	UTSW	14	119019507	missense	probably benign	0.00
R2907:Uggt2	UTSW	14	119019507	missense	probably benign	0.00
R2908:Uggt2	UTSW	14	119019507	missense	probably benign	0.00
R2998:Uggt2	UTSW	14	119049385	missense	probably damaging	1.00
R3407:Uggt2	UTSW	14	119091270	missense	probably benign	0.39
R3722:Uggt2	UTSW	14	119041518	missense	probably damaging	1.00
R3749:Uggt2	UTSW	14	119057672	missense	probably benign	0.13
R4015:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4016:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4017:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4206:Uggt2	UTSW	14	119049262	missense	probably damaging	1.00
R4536:Uggt2	UTSW	14	119019558	missense	probably benign
R4642:Uggt2	UTSW	14	119034935	missense	probably benign	0.00
R4654:Uggt2	UTSW	14	119032258	missense	possibly damaging	0.46
R4770:Uggt2	UTSW	14	119029054	splice site	probably null
R4810:Uggt2	UTSW	14	119013521	missense	probably damaging	1.00
R4832:Uggt2	UTSW	14	119001847	missense	probably damaging	0.99
R4856:Uggt2	UTSW	14	119035964	splice site	probably null
R4886:Uggt2	UTSW	14	119035964	splice site	probably null
R4888:Uggt2	UTSW	14	119049253	missense	probably damaging	1.00
R4888:Uggt2	UTSW	14	119077650	critical splice donor site	probably null
R4895:Uggt2	UTSW	14	119018886	missense	probably damaging	1.00
R5353:Uggt2	UTSW	14	119081770	missense	probably benign	0.00
R5423:Uggt2	UTSW	14	119019486	missense	probably damaging	1.00
R5476:Uggt2	UTSW	14	119090709	missense	probably benign	0.01
R5561:Uggt2	UTSW	14	119041527	missense	probably benign	0.02
R5607:Uggt2	UTSW	14	119089199	missense	possibly damaging	0.81
R5608:Uggt2	UTSW	14	119089199	missense	possibly damaging	0.81
R5625:Uggt2	UTSW	14	119077724	missense	probably damaging	1.00
R5698:Uggt2	UTSW	14	119042726	missense	probably damaging	1.00
R5986:Uggt2	UTSW	14	119049426	missense	probably damaging	1.00
R6031:Uggt2	UTSW	14	119070826	missense	probably benign	0.06
R6031:Uggt2	UTSW	14	119070826	missense	probably benign	0.06
R6056:Uggt2	UTSW	14	119035969	critical splice donor site	probably null
R6289:Uggt2	UTSW	14	119041602	missense	probably damaging	0.99
R6480:Uggt2	UTSW	14	119057564	missense	probably benign	0.01
R6515:Uggt2	UTSW	14	119077719	missense	possibly damaging	0.89
R6706:Uggt2	UTSW	14	119070881	missense	probably damaging	1.00
R6745:Uggt2	UTSW	14	119042610	missense	possibly damaging	0.58
R6819:Uggt2	UTSW	14	119026435	missense	probably damaging	1.00
R6879:Uggt2	UTSW	14	119001859	missense	probably benign	0.10
R7117:Uggt2	UTSW	14	119014526	missense	probably benign	0.25
R7183:Uggt2	UTSW	14	119019637	splice site	probably null
R7337:Uggt2	UTSW	14	119086175	missense	probably benign	0.28
R7342:Uggt2	UTSW	14	118994972	missense	possibly damaging	0.56
R7615:Uggt2	UTSW	14	119089269	missense	probably benign	0.12
R7625:Uggt2	UTSW	14	119026493	missense	probably damaging	1.00
R7685:Uggt2	UTSW	14	119075347	missense	probably damaging	1.00
R7842:Uggt2	UTSW	14	118998104	missense	probably damaging	1.00
R7891:Uggt2	UTSW	14	119042647	missense	probably benign	0.09
R7938:Uggt2	UTSW	14	119059107	missense	possibly damaging	0.68
R8050:Uggt2	UTSW	14	119026422	missense	probably damaging	0.98
Z1177:Uggt2	UTSW	14	119007296	missense	probably damaging	1.00

Posted On

2013-01-20