Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02930:Uggt1'

364056

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 essential (E-score: 0.554) question?

Stock #

IGL02930

Quality Score

Status

Chromosome

Chromosomal Location

36140027-36244720 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36157456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1253 (D1253E)

Ref Sequence

ENSEMBL: ENSMUSP00000037930 (fasta)

Gene Model

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

AlphaFold

Q6P5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000046875
AA Change: D1253E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: D1253E

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

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,378,226 (GRCm38)	N3433S	possibly damaging	Het
Actl9	T	C	17: 33,434,099 (GRCm38)	S378P	probably damaging	Het
Aldh6a1	C	A	12: 84,433,982 (GRCm38)	L426F	possibly damaging	Het
Ankef1	T	C	2: 136,550,325 (GRCm38)	I478T	possibly damaging	Het
Cabs1	A	G	5: 87,979,886 (GRCm38)	D132G	probably damaging	Het
Ccdc39	T	C	3: 33,825,494 (GRCm38)	E475G	probably damaging	Het
Cmtm2b	A	C	8: 104,329,770 (GRCm38)	M104L	probably benign	Het
Cops2	T	C	2: 125,832,189 (GRCm38)		probably benign	Het
Dnajc4	C	A	19: 6,989,433 (GRCm38)	V176F	possibly damaging	Het
Eepd1	A	G	9: 25,483,240 (GRCm38)	N267D	probably damaging	Het
Elobl	T	G	11: 88,965,186 (GRCm38)	D17A	possibly damaging	Het
Erich6	G	A	3: 58,622,354 (GRCm38)		probably benign	Het
Flna	G	A	X: 74,223,900 (GRCm38)	R2548C	probably damaging	Het
Gm6878	T	G	14: 67,310,990 (GRCm38)		probably benign	Het
Gpc1	G	T	1: 92,857,299 (GRCm38)	E355*	probably null	Het
Islr	C	T	9: 58,158,200 (GRCm38)		probably benign	Het
Mex3a	A	T	3: 88,536,225 (GRCm38)	I203L	probably benign	Het
Olfr482	A	T	7: 108,095,414 (GRCm38)	I52N	probably damaging	Het
Olfr794	T	C	10: 129,571,315 (GRCm38)	I220T	probably damaging	Het
Olfr938	G	T	9: 39,078,012 (GRCm38)	H244Q	probably damaging	Het
Prokr2	T	C	2: 132,373,474 (GRCm38)	S195G	probably benign	Het
Pyroxd1	A	T	6: 142,359,052 (GRCm38)	D335V	probably damaging	Het
Rps6kl1	T	C	12: 85,149,774 (GRCm38)	T39A	probably benign	Het
Rusc2	G	A	4: 43,416,376 (GRCm38)	A561T	probably damaging	Het
Sel1l3	A	C	5: 53,123,217 (GRCm38)	V937G	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,417,161 (GRCm38)	T382A	possibly damaging	Het
Tbx21	A	G	11: 97,100,039 (GRCm38)	I271T	probably damaging	Het
Timeless	T	C	10: 128,247,191 (GRCm38)	V632A	probably benign	Het
Tle3	A	G	9: 61,394,699 (GRCm38)	N67S	possibly damaging	Het
Tln2	G	A	9: 67,393,662 (GRCm38)	R95*	probably null	Het
Trim24	A	G	6: 37,951,445 (GRCm38)		probably benign	Het
Vmn1r8	A	G	6: 57,036,594 (GRCm38)	K210R	probably benign	Het

Other mutations in Uggt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Uggt1	APN	1	36,179,552 (GRCm38)	splice site	probably benign
IGL00817:Uggt1	APN	1	36,185,932 (GRCm38)	missense	probably benign	0.03
IGL01395:Uggt1	APN	1	36,155,077 (GRCm38)	missense	probably damaging	1.00
IGL01609:Uggt1	APN	1	36,182,474 (GRCm38)	missense	probably damaging	1.00
IGL01619:Uggt1	APN	1	36,161,694 (GRCm38)	missense	probably damaging	0.99
IGL02077:Uggt1	APN	1	36,176,794 (GRCm38)	missense	probably damaging	0.99
IGL02313:Uggt1	APN	1	36,184,484 (GRCm38)	missense	probably damaging	0.99
IGL02341:Uggt1	APN	1	36,164,519 (GRCm38)	makesense	probably null
IGL02346:Uggt1	APN	1	36,179,670 (GRCm38)	missense	probably benign	0.00
IGL02447:Uggt1	APN	1	36,150,142 (GRCm38)	missense	probably damaging	1.00
IGL02883:Uggt1	APN	1	36,177,615 (GRCm38)	missense	probably benign	0.03
IGL03153:Uggt1	APN	1	36,202,818 (GRCm38)	missense	possibly damaging	0.94
IGL03162:Uggt1	APN	1	36,207,956 (GRCm38)	missense	probably damaging	1.00
IGL03170:Uggt1	APN	1	36,163,261 (GRCm38)	missense	probably damaging	1.00
IGL03266:Uggt1	APN	1	36,150,048 (GRCm38)	missense	probably damaging	1.00
K3955:Uggt1	UTSW	1	36,162,353 (GRCm38)	missense	probably benign	0.37
R0037:Uggt1	UTSW	1	36,185,932 (GRCm38)	missense	probably benign	0.03
R0037:Uggt1	UTSW	1	36,185,932 (GRCm38)	missense	probably benign	0.03
R0167:Uggt1	UTSW	1	36,170,197 (GRCm38)	critical splice donor site	probably null
R0373:Uggt1	UTSW	1	36,179,670 (GRCm38)	missense	probably benign	0.00
R0502:Uggt1	UTSW	1	36,159,946 (GRCm38)	missense	probably damaging	1.00
R0546:Uggt1	UTSW	1	36,195,971 (GRCm38)	missense	probably benign	0.00
R0610:Uggt1	UTSW	1	36,165,506 (GRCm38)	splice site	probably benign
R0671:Uggt1	UTSW	1	36,155,128 (GRCm38)	missense	probably damaging	1.00
R0760:Uggt1	UTSW	1	36,161,724 (GRCm38)	missense	possibly damaging	0.68
R0825:Uggt1	UTSW	1	36,158,143 (GRCm38)	missense	probably benign	0.01
R0827:Uggt1	UTSW	1	36,156,313 (GRCm38)	critical splice acceptor site	probably null
R0884:Uggt1	UTSW	1	36,175,078 (GRCm38)	missense	probably benign	0.00
R1112:Uggt1	UTSW	1	36,173,546 (GRCm38)	missense	possibly damaging	0.54
R1470:Uggt1	UTSW	1	36,176,796 (GRCm38)	missense	probably benign	0.13
R1470:Uggt1	UTSW	1	36,176,796 (GRCm38)	missense	probably benign	0.13
R1592:Uggt1	UTSW	1	36,202,858 (GRCm38)	missense	probably benign	0.04
R1730:Uggt1	UTSW	1	36,221,261 (GRCm38)	missense	probably benign	0.05
R1923:Uggt1	UTSW	1	36,179,613 (GRCm38)	missense	probably damaging	0.99
R1970:Uggt1	UTSW	1	36,151,781 (GRCm38)	missense	probably damaging	1.00
R2086:Uggt1	UTSW	1	36,192,414 (GRCm38)	missense	probably null	1.00
R2829:Uggt1	UTSW	1	36,162,294 (GRCm38)	missense	probably benign	0.38
R3431:Uggt1	UTSW	1	36,210,059 (GRCm38)	nonsense	probably null
R3432:Uggt1	UTSW	1	36,210,059 (GRCm38)	nonsense	probably null
R3725:Uggt1	UTSW	1	36,182,507 (GRCm38)	nonsense	probably null
R3880:Uggt1	UTSW	1	36,176,804 (GRCm38)	intron	probably benign
R4052:Uggt1	UTSW	1	36,164,489 (GRCm38)	missense	probably damaging	0.98
R4133:Uggt1	UTSW	1	36,158,159 (GRCm38)	missense	probably damaging	1.00
R4489:Uggt1	UTSW	1	36,146,668 (GRCm38)	nonsense	probably null
R4570:Uggt1	UTSW	1	36,150,073 (GRCm38)	missense	probably damaging	1.00
R4866:Uggt1	UTSW	1	36,202,855 (GRCm38)	nonsense	probably null
R4895:Uggt1	UTSW	1	36,156,264 (GRCm38)	missense	probably damaging	1.00
R4900:Uggt1	UTSW	1	36,202,855 (GRCm38)	nonsense	probably null
R5372:Uggt1	UTSW	1	36,244,060 (GRCm38)	splice site	probably benign
R5385:Uggt1	UTSW	1	36,184,412 (GRCm38)	missense	probably damaging	1.00
R5652:Uggt1	UTSW	1	36,216,153 (GRCm38)	nonsense	probably null
R5694:Uggt1	UTSW	1	36,179,656 (GRCm38)	missense	probably damaging	1.00
R5732:Uggt1	UTSW	1	36,161,771 (GRCm38)	splice site	probably null
R5893:Uggt1	UTSW	1	36,227,628 (GRCm38)	splice site	probably null
R6191:Uggt1	UTSW	1	36,162,208 (GRCm38)	missense	probably damaging	0.98
R6247:Uggt1	UTSW	1	36,163,228 (GRCm38)	missense	probably damaging	1.00
R6259:Uggt1	UTSW	1	36,234,916 (GRCm38)	missense	probably benign	0.00
R6399:Uggt1	UTSW	1	36,163,366 (GRCm38)	missense	possibly damaging	0.90
R6439:Uggt1	UTSW	1	36,174,951 (GRCm38)	missense	possibly damaging	0.95
R6468:Uggt1	UTSW	1	36,173,450 (GRCm38)	missense	probably benign	0.00
R6788:Uggt1	UTSW	1	36,230,688 (GRCm38)	missense	probably benign	0.00
R7165:Uggt1	UTSW	1	36,155,107 (GRCm38)	missense	probably benign	0.41
R7255:Uggt1	UTSW	1	36,146,106 (GRCm38)	missense	probably damaging	1.00
R7273:Uggt1	UTSW	1	36,162,221 (GRCm38)	missense	probably damaging	0.99
R7469:Uggt1	UTSW	1	36,151,733 (GRCm38)	missense	probably damaging	1.00
R7490:Uggt1	UTSW	1	36,164,508 (GRCm38)	missense	probably benign	0.01
R7570:Uggt1	UTSW	1	36,185,838 (GRCm38)	missense	probably benign	0.09
R7612:Uggt1	UTSW	1	36,163,235 (GRCm38)	missense	probably damaging	0.99
R7759:Uggt1	UTSW	1	36,146,725 (GRCm38)	missense	possibly damaging	0.81
R7792:Uggt1	UTSW	1	36,207,984 (GRCm38)	missense	probably damaging	1.00
R7816:Uggt1	UTSW	1	36,163,315 (GRCm38)	missense	possibly damaging	0.95
R7858:Uggt1	UTSW	1	36,156,258 (GRCm38)	missense	probably damaging	1.00
R7887:Uggt1	UTSW	1	36,208,034 (GRCm38)	missense	probably damaging	0.99
R8040:Uggt1	UTSW	1	36,211,473 (GRCm38)	missense	possibly damaging	0.70
R8093:Uggt1	UTSW	1	36,227,485 (GRCm38)	missense	probably damaging	1.00
R8245:Uggt1	UTSW	1	36,165,564 (GRCm38)	missense	probably damaging	1.00
R8338:Uggt1	UTSW	1	36,227,521 (GRCm38)	missense	probably damaging	1.00
R8353:Uggt1	UTSW	1	36,170,296 (GRCm38)	critical splice acceptor site	probably null
R8442:Uggt1	UTSW	1	36,173,487 (GRCm38)	missense	probably damaging	0.99
R8519:Uggt1	UTSW	1	36,176,643 (GRCm38)	splice site	probably null
R8529:Uggt1	UTSW	1	36,184,432 (GRCm38)	missense	possibly damaging	0.85
R8730:Uggt1	UTSW	1	36,197,543 (GRCm38)	critical splice donor site	probably null
R8917:Uggt1	UTSW	1	36,146,654 (GRCm38)	missense
R8947:Uggt1	UTSW	1	36,158,148 (GRCm38)	missense	probably benign	0.12
R9240:Uggt1	UTSW	1	36,182,615 (GRCm38)	missense	possibly damaging	0.50
R9248:Uggt1	UTSW	1	36,210,022 (GRCm38)	missense	possibly damaging	0.80
R9401:Uggt1	UTSW	1	36,216,131 (GRCm38)	critical splice donor site	probably null
R9414:Uggt1	UTSW	1	36,184,426 (GRCm38)	missense	probably benign	0.01
R9416:Uggt1	UTSW	1	36,164,522 (GRCm38)	missense
R9441:Uggt1	UTSW	1	36,221,225 (GRCm38)	missense	probably benign	0.02
R9489:Uggt1	UTSW	1	36,234,805 (GRCm38)	critical splice donor site	probably null
R9563:Uggt1	UTSW	1	36,165,546 (GRCm38)	missense	possibly damaging	0.60
R9605:Uggt1	UTSW	1	36,234,805 (GRCm38)	critical splice donor site	probably null
X0022:Uggt1	UTSW	1	36,165,555 (GRCm38)	missense	possibly damaging	0.67
Z1088:Uggt1	UTSW	1	36,174,191 (GRCm38)	missense	probably damaging	1.00
Z1176:Uggt1	UTSW	1	36,161,695 (GRCm38)	missense	probably damaging	1.00
Z1177:Uggt1	UTSW	1	36,155,073 (GRCm38)	missense	probably null	1.00

Posted On

2015-12-18