Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03153:Uggt1'

411151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

IGL03153

Quality Score

Status

Chromosome

Chromosomal Location

36179109-36283407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 36241899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 345 (V345G)

Ref Sequence

ENSEMBL: ENSMUSP00000037930 (fasta)

Gene Model

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

AlphaFold

Q6P5E4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046875
AA Change: V345G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: V345G

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: ENSMUST00000172592

Predicted Effect

probably benign
Transcript: ENSMUST00000174142

SMART Domains

Protein: ENSMUSP00000133929
Gene: ENSMUSG00000037470

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	1	52	7.8e-11	PFAM

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174716

Coding Region Coverage

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]
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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,465,563 (GRCm39)	E419G	possibly damaging	Het
Abcg3	A	G	5: 105,122,631 (GRCm39)		probably benign	Het
Adam17	T	C	12: 21,395,698 (GRCm39)	D256G	probably damaging	Het
Adgrb3	G	A	1: 25,570,978 (GRCm39)	R500*	probably null	Het
Aldh3a2	A	G	11: 61,149,665 (GRCm39)	Y234H	probably damaging	Het
Alpk3	A	G	7: 80,743,143 (GRCm39)	T987A	probably benign	Het
Amtn	A	G	5: 88,532,828 (GRCm39)	K148E	possibly damaging	Het
Asap1	G	A	15: 64,032,123 (GRCm39)	T237M	probably damaging	Het
Ccdc124	A	T	8: 71,321,573 (GRCm39)		probably null	Het
Cdon	T	C	9: 35,389,255 (GRCm39)	Y787H	probably damaging	Het
Cimip4	T	C	15: 78,269,516 (GRCm39)	D188G	probably damaging	Het
Coro7	A	G	16: 4,453,246 (GRCm39)		probably null	Het
Dram2	T	A	3: 106,462,490 (GRCm39)		probably benign	Het
Drd5	T	C	5: 38,477,124 (GRCm39)	V39A	probably benign	Het
Ern1	A	G	11: 106,300,924 (GRCm39)	L490P	possibly damaging	Het
Fat1	A	G	8: 45,483,160 (GRCm39)	T3083A	possibly damaging	Het
Irgm1	A	G	11: 48,757,094 (GRCm39)	I239T	probably damaging	Het
Klhl10	A	T	11: 100,347,758 (GRCm39)	T605S	probably benign	Het
Lcor	T	A	19: 41,546,795 (GRCm39)	S126R	probably damaging	Het
Lgi4	G	T	7: 30,759,983 (GRCm39)	V60F	probably damaging	Het
Lin37	G	A	7: 30,256,585 (GRCm39)	R84W	probably damaging	Het
Lmf1	A	G	17: 25,804,624 (GRCm39)	S97G	possibly damaging	Het
Oasl2	A	G	5: 115,039,393 (GRCm39)	T194A	probably benign	Het
Or5ac17	A	G	16: 59,036,566 (GRCm39)	S137P	probably benign	Het
Pnpo	A	T	11: 96,834,661 (GRCm39)	F12I	probably damaging	Het
Prdm4	T	C	10: 85,743,860 (GRCm39)	T132A	probably benign	Het
Ptbp2	T	C	3: 119,545,593 (GRCm39)	T118A	probably benign	Het
Ptf1a	T	A	2: 19,451,456 (GRCm39)		probably benign	Het
Rev3l	T	A	10: 39,682,874 (GRCm39)	F331I	probably damaging	Het
Rfx6	C	A	10: 51,599,217 (GRCm39)	S524*	probably null	Het
Scube3	A	G	17: 28,386,032 (GRCm39)	S758G	possibly damaging	Het
Slc44a2	T	C	9: 21,254,496 (GRCm39)	I257T	probably benign	Het
Spon1	A	T	7: 113,629,579 (GRCm39)	I408F	probably damaging	Het
Srpk1	C	A	17: 28,811,240 (GRCm39)	D541Y	possibly damaging	Het
Tenm4	A	T	7: 96,522,969 (GRCm39)	I1467F	probably damaging	Het
Vmn1r23	A	T	6: 57,902,917 (GRCm39)	I287K	probably damaging	Het
Whamm	A	G	7: 81,239,280 (GRCm39)		probably benign	Het
Zeb1	A	G	18: 5,770,511 (GRCm39)	D888G	probably damaging	Het
Zfp263	A	G	16: 3,564,744 (GRCm39)	N253S	possibly damaging	Het
Zfp446	C	A	7: 12,711,834 (GRCm39)	A19E	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
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
R0760:Uggt1	UTSW	1	36,200,805 (GRCm39)	missense	possibly damaging	0.68
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

Posted On

2016-08-02