Mutagenetix > Incidental Mutation

Incidental Mutation 'R0760:Uggt1'

70027

Institutional Source

Beutler Lab

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik

MMRRC Submission

038940-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.470) question?

Stock #

R0760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36179109-36283407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36200805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1164 (I1164N)

Ref Sequence

ENSEMBL: ENSMUSP00000037930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046875] [ENSMUST00000173166] [ENSMUST00000174266]

AlphaFold

Q6P5E4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046875
AA Change: I1164N

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: I1164N

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
Pfam:UDP-g_GGTase	44	1222	N/A	PFAM
SCOP:d1ga8a_	1256	1521	3e-45	SMART
Blast:BROMO	1414	1453	3e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173082

Predicted Effect

probably benign
Transcript: ENSMUST00000173166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173999

Predicted Effect

probably benign
Transcript: ENSMUST00000174224

Predicted Effect

probably benign
Transcript: ENSMUST00000174266

SMART Domains

Protein: ENSMUSP00000134640
Gene: ENSMUSG00000037470

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
low complexity region	88	97	N/A	INTRINSIC

Meta Mutation Damage Score

0.1099

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.8%

Validation Efficiency

95% (39/41)

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]
PHENOTYPE: Heterozygous KO reduces susceptibility to and morbidity of RNA virus infection. Homozygous KO is embryonic lethal. The peptide is a folding sensor for glycoproteins in the ER. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,324,661 (GRCm39)	V120A	possibly damaging	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Alcam	C	T	16: 52,116,035 (GRCm39)	V180M	probably benign	Het
Catip	A	G	1: 74,402,118 (GRCm39)		probably benign	Het
Ccm2l	A	C	2: 152,914,104 (GRCm39)	N298T	probably damaging	Het
Ccni	A	G	5: 93,331,188 (GRCm39)	V261A	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5d1	A	G	11: 69,285,999 (GRCm39)	F41L	probably benign	Het
Fbxw8	A	G	5: 118,203,966 (GRCm39)		probably null	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gpaa1	T	C	15: 76,216,119 (GRCm39)	I33T	probably benign	Het
Grip1	T	A	10: 119,853,983 (GRCm39)	S512T	probably damaging	Het
Gtpbp1	G	A	15: 79,603,356 (GRCm39)	G140E	probably damaging	Het
Hspa4l	T	A	3: 40,739,155 (GRCm39)	L681*	probably null	Het
Hspg2	A	G	4: 137,239,660 (GRCm39)	T456A	probably damaging	Het
Igkv3-1	A	T	6: 70,681,119 (GRCm39)	D106V	probably damaging	Het
Inhbc	C	T	10: 127,193,237 (GRCm39)	G260S	probably damaging	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Kif5c	T	C	2: 49,578,765 (GRCm39)	I131T	probably damaging	Het
Kmt2c	A	G	5: 25,558,315 (GRCm39)	Y1133H	possibly damaging	Het
Lama2	A	G	10: 26,920,429 (GRCm39)		probably null	Het
N4bp1	A	G	8: 87,573,540 (GRCm39)	Y744H	probably damaging	Het
Or14j7	C	T	17: 38,235,005 (GRCm39)	Q183*	probably null	Het
Or1n2	A	G	2: 36,797,233 (GRCm39)	S92G	probably benign	Het
Ovol2	A	G	2: 144,173,679 (GRCm39)		probably null	Het
Pappa2	C	A	1: 158,544,531 (GRCm39)		probably null	Het
Pcdh10	G	A	3: 45,335,005 (GRCm39)	E440K	probably benign	Het
Pcsk4	A	G	10: 80,161,775 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,915,802 (GRCm39)	N937S	possibly damaging	Het
Ppp6r1	A	G	7: 4,642,722 (GRCm39)	F541L	probably benign	Het
Rad54l2	A	G	9: 106,596,805 (GRCm39)		probably null	Het
Ranbp2	C	T	10: 58,312,613 (GRCm39)	P1111L	possibly damaging	Het
Rasal3	A	G	17: 32,611,146 (GRCm39)	F929S	probably benign	Het
Rnf111	A	G	9: 70,336,960 (GRCm39)	V909A	probably damaging	Het
Rnf168	A	G	16: 32,117,204 (GRCm39)		probably null	Het
Slc2a5	T	C	4: 150,224,124 (GRCm39)	L244P	probably benign	Het
Snta1	T	A	2: 154,222,860 (GRCm39)	I288F	probably damaging	Het
Sv2a	G	A	3: 96,095,498 (GRCm39)	C297Y	probably damaging	Het
Trim44	C	T	2: 102,230,905 (GRCm39)		probably benign	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36,218,633 (GRCm39)	splice site	probably benign
IGL00817:Uggt1	APN	1	36,225,013 (GRCm39)	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36,194,158 (GRCm39)	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36,221,555 (GRCm39)	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36,200,775 (GRCm39)	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36,215,875 (GRCm39)	missense	probably damaging	0.99
IGL02313:Uggt1	APN	1	36,223,565 (GRCm39)	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36,203,600 (GRCm39)	makesense	probably null
IGL02346:Uggt1	APN	1	36,218,751 (GRCm39)	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36,189,223 (GRCm39)	missense	probably damaging	1.00
IGL02883:Uggt1	APN	1	36,216,696 (GRCm39)	missense	probably benign	0.03
IGL02930:Uggt1	APN	1	36,196,537 (GRCm39)	missense	probably benign	0.01
IGL03153:Uggt1	APN	1	36,241,899 (GRCm39)	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36,247,037 (GRCm39)	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36,202,342 (GRCm39)	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36,189,129 (GRCm39)	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36,201,434 (GRCm39)	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36,225,013 (GRCm39)	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36,225,013 (GRCm39)	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36,209,278 (GRCm39)	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36,218,751 (GRCm39)	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36,199,027 (GRCm39)	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36,235,052 (GRCm39)	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36,204,587 (GRCm39)	splice site	probably benign
R0671:Uggt1	UTSW	1	36,194,209 (GRCm39)	missense	probably damaging	1.00
R0825:Uggt1	UTSW	1	36,197,224 (GRCm39)	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36,195,394 (GRCm39)	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36,214,159 (GRCm39)	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36,212,627 (GRCm39)	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36,215,877 (GRCm39)	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36,215,877 (GRCm39)	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36,241,939 (GRCm39)	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36,260,342 (GRCm39)	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36,218,694 (GRCm39)	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36,190,862 (GRCm39)	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36,231,495 (GRCm39)	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36,201,375 (GRCm39)	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36,249,140 (GRCm39)	nonsense	probably null
R3432:Uggt1	UTSW	1	36,249,140 (GRCm39)	nonsense	probably null
R3725:Uggt1	UTSW	1	36,221,588 (GRCm39)	nonsense	probably null
R3880:Uggt1	UTSW	1	36,215,885 (GRCm39)	intron	probably benign
R4052:Uggt1	UTSW	1	36,203,570 (GRCm39)	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36,197,240 (GRCm39)	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36,185,749 (GRCm39)	nonsense	probably null
R4570:Uggt1	UTSW	1	36,189,154 (GRCm39)	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36,241,936 (GRCm39)	nonsense	probably null
R4895:Uggt1	UTSW	1	36,195,345 (GRCm39)	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36,241,936 (GRCm39)	nonsense	probably null
R5372:Uggt1	UTSW	1	36,283,141 (GRCm39)	splice site	probably benign
R5385:Uggt1	UTSW	1	36,223,493 (GRCm39)	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36,255,234 (GRCm39)	nonsense	probably null
R5694:Uggt1	UTSW	1	36,218,737 (GRCm39)	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36,200,852 (GRCm39)	splice site	probably null
R5893:Uggt1	UTSW	1	36,266,709 (GRCm39)	splice site	probably null
R6191:Uggt1	UTSW	1	36,201,289 (GRCm39)	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36,202,309 (GRCm39)	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36,273,997 (GRCm39)	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36,202,447 (GRCm39)	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36,214,032 (GRCm39)	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36,212,531 (GRCm39)	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36,269,769 (GRCm39)	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36,194,188 (GRCm39)	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36,185,187 (GRCm39)	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36,201,302 (GRCm39)	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36,190,814 (GRCm39)	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36,203,589 (GRCm39)	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36,224,919 (GRCm39)	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36,202,316 (GRCm39)	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36,185,806 (GRCm39)	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36,247,065 (GRCm39)	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36,202,396 (GRCm39)	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36,195,339 (GRCm39)	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36,247,115 (GRCm39)	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36,250,554 (GRCm39)	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36,266,566 (GRCm39)	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36,204,645 (GRCm39)	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36,266,602 (GRCm39)	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36,209,377 (GRCm39)	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36,212,568 (GRCm39)	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36,215,724 (GRCm39)	splice site	probably null
R8529:Uggt1	UTSW	1	36,223,513 (GRCm39)	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36,236,624 (GRCm39)	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36,185,735 (GRCm39)	missense
R8947:Uggt1	UTSW	1	36,197,229 (GRCm39)	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36,221,696 (GRCm39)	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36,249,103 (GRCm39)	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36,255,212 (GRCm39)	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36,223,507 (GRCm39)	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36,203,603 (GRCm39)	missense
R9441:Uggt1	UTSW	1	36,260,306 (GRCm39)	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36,273,886 (GRCm39)	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36,204,627 (GRCm39)	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36,273,886 (GRCm39)	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36,204,636 (GRCm39)	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36,213,272 (GRCm39)	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36,200,776 (GRCm39)	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36,194,154 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAATGGAGAACAGACCTCGCTC -3'
(R):5'- ACTGCTGTGTAAAGTCCCTGCTTG -3'

Sequencing Primer
(F):5'- GATCAGCACTTAGACCCCTTG -3'
(R):5'- ACTGCACTGCCCTGCTG -3'

Posted On

2013-09-30