Mutagenetix > Incidental Mutation

Incidental Mutation 'R5694:Uggt1'

443794

Institutional Source

Beutler Lab

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik

MMRRC Submission

043325-MU

Accession Numbers

Essential gene?

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

Stock #

R5694 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36179109-36283407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36218737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 63 (D63E)

Ref Sequence

ENSEMBL: ENSMUSP00000134078 (fasta)

Gene Model

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

AlphaFold

Q6P5E4

Predicted Effect

probably benign
Transcript: ENSMUST00000046875
AA Change: D680E

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: D680E

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 damaging
Transcript: ENSMUST00000173166
AA Change: D63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,546,673 (GRCm39)	I1353N	probably damaging	Het
Actr1a	C	A	19: 46,384,157 (GRCm39)		probably benign	Het
Adamts14	A	T	10: 61,065,431 (GRCm39)	M356K	probably benign	Het
Adamtsl2	A	G	2: 26,971,736 (GRCm39)	H7R	probably benign	Het
Angptl2	T	C	2: 33,118,628 (GRCm39)	V134A	probably damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Astn2	T	C	4: 65,868,375 (GRCm39)	D488G	probably damaging	Het
Cat	A	T	2: 103,303,339 (GRCm39)	V146E	probably damaging	Het
Dmxl1	T	C	18: 50,027,324 (GRCm39)	V2144A	probably damaging	Het
Efcab5	T	G	11: 77,079,701 (GRCm39)	D15A	probably benign	Het
Epha10	C	T	4: 124,796,446 (GRCm39)	A385V	unknown	Het
Erg	C	A	16: 95,161,890 (GRCm39)	E388D	probably benign	Het
Fbxo10	T	A	4: 45,035,970 (GRCm39)	I931F	probably damaging	Het
Frem1	A	G	4: 82,912,353 (GRCm39)	L673P	probably damaging	Het
Gm4922	A	C	10: 18,660,035 (GRCm39)	I229S	possibly damaging	Het
Gnptab	T	A	10: 88,250,348 (GRCm39)	D153E	probably benign	Het
Htr7	T	C	19: 36,034,521 (GRCm39)	M45V	probably benign	Het
Hycc1	C	A	5: 24,196,794 (GRCm39)	L31F	probably damaging	Het
Igkv4-51	C	T	6: 69,658,911 (GRCm39)	V5M	probably damaging	Het
Ints7	G	A	1: 191,318,730 (GRCm39)	E156K	probably damaging	Het
Map3k21	A	G	8: 126,671,507 (GRCm39)	T932A	probably benign	Het
Mapk1	T	G	16: 16,836,333 (GRCm39)	D160E	probably benign	Het
Mast4	A	T	13: 102,910,701 (GRCm39)	Y479*	probably null	Het
Meig1	T	A	2: 3,412,999 (GRCm39)	K7N	probably damaging	Het
Mthfd1l	T	A	10: 3,985,239 (GRCm39)	D548E	possibly damaging	Het
Myo16	A	G	8: 10,619,606 (GRCm39)	R1386G	probably benign	Het
Nphs2	T	C	1: 156,153,607 (GRCm39)	S353P	probably benign	Het
Or12j4	T	C	7: 140,046,644 (GRCm39)	F177L	probably benign	Het
Or8b1	T	A	9: 38,399,532 (GRCm39)	I69K	probably damaging	Het
Pcdha9	G	T	18: 37,131,425 (GRCm39)	V165L	probably benign	Het
Pde3a	T	A	6: 141,196,228 (GRCm39)	S305T	possibly damaging	Het
Phf14	C	A	6: 11,990,124 (GRCm39)	L718I	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rab44	T	A	17: 29,364,940 (GRCm39)	M645K	unknown	Het
Rab44	T	C	17: 29,359,474 (GRCm39)	L554P	probably damaging	Het
Rnf222	A	G	11: 68,783,723 (GRCm39)	T97A	probably benign	Het
Rnpepl1	T	C	1: 92,846,663 (GRCm39)	S522P	probably benign	Het
Serinc5	A	G	13: 92,825,302 (GRCm39)	I244V	probably benign	Het
Serpinb10	A	T	1: 107,463,187 (GRCm39)		probably null	Het
Siglech	T	A	7: 55,418,404 (GRCm39)	F124Y	probably damaging	Het
Smarcc2	A	T	10: 128,319,996 (GRCm39)	I790L	probably benign	Het
Sos2	C	A	12: 69,637,689 (GRCm39)	R1007S	probably damaging	Het
Stk4	C	T	2: 163,942,484 (GRCm39)	T372M	possibly damaging	Het
Tbc1d10c	A	T	19: 4,234,963 (GRCm39)	L366H	probably damaging	Het
Tor4a	T	C	2: 25,084,932 (GRCm39)	T324A	probably benign	Het
Trim12a	C	A	7: 103,956,450 (GRCm39)	C30F	probably damaging	Het
Ttll3	G	A	6: 113,376,669 (GRCm39)	V350M	probably damaging	Het
Unc5b	G	A	10: 60,609,526 (GRCm39)	T590I	probably benign	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Wls	A	C	3: 159,545,624 (GRCm39)	I16L	probably benign	Het
Zfp101	T	C	17: 33,599,919 (GRCm39)	I612M	probably benign	Het
Zfp677	C	A	17: 21,618,021 (GRCm39)	D359E	probably damaging	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
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
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'- AAGGACAGGCCATAATTTTGAGC -3'
(R):5'- ATAGAGTTAGAGGCACTGTGTG -3'

Sequencing Primer
(F):5'- CAGGCCATAATTTTGAGCTATCTTC -3'
(R):5'- GGCACTGTGTGTGTCCATCC -3'

Posted On

2016-11-09