Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Uggt1'

287867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

Ugcgl1, C820010P03Rik, A930007H10Rik, 0910001L17Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

36140027-36244720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36184484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 575 (Y575N)

Ref Sequence

ENSEMBL: ENSMUSP00000037930 (fasta)

Gene Model

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

AlphaFold

Q6P5E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046875
AA Change: Y575N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: Y575N

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

probably benign
Transcript: ENSMUST00000173166

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36179552	splice site	probably benign
IGL00817:Uggt1	APN	1	36185932	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36155077	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36182474	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36161694	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36176794	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36164519	makesense	probably null
IGL02346:Uggt1	APN	1	36179670	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36150142	missense	probably damaging	1.00
IGL02883:Uggt1	APN	1	36177615	missense	probably benign	0.03
IGL02930:Uggt1	APN	1	36157456	missense	probably benign	0.01
IGL03153:Uggt1	APN	1	36202818	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36207956	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36163261	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36150048	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36162353	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36185932	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36185932	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36170197	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36179670	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36159946	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36195971	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36165506	splice site	probably benign
R0671:Uggt1	UTSW	1	36155128	missense	probably damaging	1.00
R0760:Uggt1	UTSW	1	36161724	missense	possibly damaging	0.68
R0825:Uggt1	UTSW	1	36158143	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36156313	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36175078	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36173546	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36176796	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36176796	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36202858	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36221261	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36179613	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36151781	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36192414	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36162294	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36210059	nonsense	probably null
R3432:Uggt1	UTSW	1	36210059	nonsense	probably null
R3725:Uggt1	UTSW	1	36182507	nonsense	probably null
R3880:Uggt1	UTSW	1	36176804	intron	probably benign
R4052:Uggt1	UTSW	1	36164489	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36158159	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36146668	nonsense	probably null
R4570:Uggt1	UTSW	1	36150073	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36202855	nonsense	probably null
R4895:Uggt1	UTSW	1	36156264	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36202855	nonsense	probably null
R5372:Uggt1	UTSW	1	36244060	splice site	probably benign
R5385:Uggt1	UTSW	1	36184412	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36216153	nonsense	probably null
R5694:Uggt1	UTSW	1	36179656	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36161771	splice site	probably null
R5893:Uggt1	UTSW	1	36227628	splice site	probably null
R6191:Uggt1	UTSW	1	36162208	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36163228	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36234916	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36163366	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36174951	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36173450	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36230688	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36155107	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36146106	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36162221	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36151733	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36164508	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36185838	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36163235	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36146725	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36207984	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36163315	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36156258	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36208034	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36211473	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36227485	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36165564	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36227521	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36170296	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36173487	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36176643	splice site	probably null
R8529:Uggt1	UTSW	1	36184432	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36197543	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36146654	missense
R8947:Uggt1	UTSW	1	36158148	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36182615	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36210022	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36216131	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36184426	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36164522	missense
R9441:Uggt1	UTSW	1	36221225	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36234805	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36165546	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36234805	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36165555	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36174191	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36161695	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36155073	missense	probably null	1.00

Posted On

2015-04-16