Mutagenetix > Incidental Mutations

Incidental Mutation 'R4856:Uggt2'

374553

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

042467-MU

Accession Numbers

NCBI RefSeq: NM_001081252.2; MGI:1913685

Is this an essential gene?

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

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118985039-119099430 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 119035964 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127153] [ENSMUST00000156203] [ENSMUST00000156203]

Predicted Effect

probably benign
Transcript: ENSMUST00000127153

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
low complexity region	327	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153693

SMART Domains

Protein: ENSMUSP00000123327
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	1	106	3.3e-40	PFAM

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000173470

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,644,073		probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp2b4	T	A	1: 133,706,780	I1177L	probably benign	Het
Bub3	A	T	7: 131,561,568	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,278,256	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,873,011	S268A	probably benign	Het
Card6	T	C	15: 5,105,141		probably null	Het
Cdk13	A	G	13: 17,719,734	S1103P	probably benign	Het
Cfap221	T	C	1: 119,934,204	T614A	probably damaging	Het
Cfap221	T	A	1: 119,984,758	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,676,838	T513A	probably benign	Het
Clec4g	T	A	8: 3,716,419		probably benign	Het
Cntln	A	C	4: 84,971,229	E316D	probably benign	Het
Cpne2	T	A	8: 94,563,964	D392E	probably benign	Het
Cry1	G	T	10: 85,148,770	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,252,881	V440A	probably benign	Het
Ddx46	A	G	13: 55,638,199	D64G	unknown	Het
Dhx34	A	G	7: 16,215,442	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,522,787	I327F	possibly damaging	Het
Elavl3	T	C	9: 22,026,318	K189E	possibly damaging	Het
Enam	A	T	5: 88,488,734	R82*	probably null	Het
Erf	A	G	7: 25,246,211	V45A	probably damaging	Het
Fat3	T	A	9: 16,021,330	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,890	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,402,791	H180L	possibly damaging	Het
Gm13103	G	T	4: 143,853,303	R486L	probably benign	Het
Grin2c	T	C	11: 115,260,790	T115A	probably damaging	Het
H6pd	C	T	4: 149,982,778	V384M	possibly damaging	Het
Hba-x	A	G	11: 32,277,008	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,829,827	P618S	probably benign	Het
Hpse2	C	T	19: 42,788,957	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,193,803	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,567,154	R118L	possibly damaging	Het
Iqcm	A	T	8: 75,888,600	R436S	possibly damaging	Het
Islr	T	C	9: 58,157,606	D206G	probably damaging	Het
Itih1	A	G	14: 30,936,701		probably null	Het
Jam2	G	A	16: 84,801,602	D34N	probably benign	Het
Klhl14	A	T	18: 21,557,972		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lrrc66	A	G	5: 73,608,567	F378L	probably benign	Het
Map10	T	A	8: 125,670,692	Y275N	probably damaging	Het
Mpi	T	C	9: 57,545,307	Y314C	probably damaging	Het
Mpp3	A	G	11: 102,025,136	Y55H	probably benign	Het
Nectin4	T	C	1: 171,384,815	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,240,442	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,083,155		probably benign	Het
Notch2	A	T	3: 98,102,419	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,369,611	K167E	probably benign	Het
Olfr147	A	T	9: 38,403,468	N195I	probably damaging	Het
Olfr1472	T	C	19: 13,454,521		probably null	Het
Olfr1501	T	A	19: 13,838,279	E298V	probably damaging	Het
Olfr695	T	A	7: 106,873,970	I92F	probably damaging	Het
Olfr761	A	T	17: 37,952,071	S318T	probably benign	Het
Olr1	T	A	6: 129,493,596	K203*	probably null	Het
Osbpl9	T	C	4: 109,068,367	N485S	probably benign	Het
Pbk	T	A	14: 65,815,201	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,847,453	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,437,163	D133G	probably damaging	Het
Prl6a1	A	T	13: 27,319,000	D193V	probably damaging	Het
Rad21	G	T	15: 51,968,500	P395Q	probably damaging	Het
Reps1	T	A	10: 18,123,625	I720N	probably damaging	Het
Rpn2	T	C	2: 157,318,044		probably null	Het
Rreb1	G	A	13: 37,931,058	V798M	possibly damaging	Het
Sardh	C	T	2: 27,244,477	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,766,754	P36S	probably damaging	Het
Scn10a	C	A	9: 119,694,309	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,694,310	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,461,032	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,983,970	H1226Q	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc12a3	G	A	8: 94,351,810		probably null	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Spata1	C	G	3: 146,469,774	D326H	probably damaging	Het
Tcrg-V4	T	C	13: 19,185,066	V29A	probably benign	Het
Tex52	A	T	6: 128,384,988		probably null	Het
Tma16	A	C	8: 66,481,477	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416		probably benign	Het
Trmt10a	A	T	3: 138,148,385	K75*	probably null	Het
Ttc3	T	C	16: 94,390,283	V228A	probably benign	Het
Ttn	T	C	2: 76,731,300	D28954G	probably damaging	Het
Vars	T	A	17: 35,015,726	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,454,533	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,308,034	A508E	probably benign	Het
Vps41	G	A	13: 18,829,255	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,453,932	H427R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCACTGTCCCTAGCCAGG -3'
(R):5'- ACGTCTCCTGGAAGATATCTGAC -3'

Sequencing Primer
(F):5'- GGGTCAGGCCTTTAATTCCAGC -3'
(R):5'- CCTGGAAGATATCTGACAGTAATGTC -3'

Posted On

2016-03-16