Mutagenetix > Incidental Mutation

Incidental Mutation 'R8245:Uggt1'

640783

Institutional Source

Beutler Lab

Gene Symbol

Uggt1

Ensembl Gene

ENSMUSG00000037470

Gene Name

UDP-glucose glycoprotein glucosyltransferase 1

Synonyms

C820010P03Rik, 0910001L17Rik, Ugcgl1, A930007H10Rik

MMRRC Submission

067673-MU

Accession Numbers

Essential gene?

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

Stock #

R8245 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36179109-36283407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36204645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 990 (V990A)

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: V990A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037930
Gene: ENSMUSG00000037470
AA Change: V990A

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: 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

0.4395

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,539,870 (GRCm39)		probably null	Het
Adam4	A	T	12: 81,466,657 (GRCm39)	C655S	probably damaging	Het
Adamts13	A	C	2: 26,880,568 (GRCm39)	D717A	probably damaging	Het
Atf7ip2	A	G	16: 10,019,262 (GRCm39)	N30S	possibly damaging	Het
Bmp8b	T	C	4: 123,008,532 (GRCm39)	V166A	probably benign	Het
Bpifb9a	G	A	2: 154,104,646 (GRCm39)	G261R	probably benign	Het
Cdipt	G	T	7: 126,578,732 (GRCm39)	M174I	probably benign	Het
Cep128	T	C	12: 90,966,419 (GRCm39)	T1063A	probably benign	Het
Ciao1	A	G	2: 127,088,404 (GRCm39)	Y140H	probably damaging	Het
Cngb1	A	G	8: 96,024,408 (GRCm39)	S217P	unknown	Het
Cnot2	T	A	10: 116,346,294 (GRCm39)	I103F	probably benign	Het
Col27a1	T	G	4: 63,144,040 (GRCm39)	V576G	probably damaging	Het
Dapk1	T	A	13: 60,878,710 (GRCm39)	H566Q	probably benign	Het
Dhrs2	T	A	14: 55,478,637 (GRCm39)	C261S	possibly damaging	Het
Ercc4	G	C	16: 12,948,001 (GRCm39)	R406P	probably benign	Het
Fer1l4	A	G	2: 155,886,934 (GRCm39)		probably null	Het
Fhod3	T	A	18: 25,246,673 (GRCm39)	F1293Y	probably damaging	Het
Fsip1	T	A	2: 118,075,359 (GRCm39)	K218M	unknown	Het
Fsip2	G	T	2: 82,811,346 (GRCm39)	S2555I	possibly damaging	Het
Gfpt2	A	G	11: 49,714,785 (GRCm39)	K358E	probably benign	Het
Gm9637	A	T	14: 19,402,598 (GRCm38)	V1D	noncoding transcript	Het
H2-M10.6	T	C	17: 37,124,155 (GRCm39)		probably null	Het
Hand2	A	G	8: 57,774,994 (GRCm39)	Y18C	probably damaging	Het
Helz2	A	T	2: 180,879,895 (GRCm39)	V607E	probably damaging	Het
Hps5	G	A	7: 46,418,485 (GRCm39)	R862*	probably null	Het
Ildr1	A	G	16: 36,529,883 (GRCm39)	D90G	probably damaging	Het
Ints12	A	G	3: 132,814,633 (GRCm39)	N280S	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Itpr2	T	A	6: 146,274,604 (GRCm39)	K859N	probably damaging	Het
Lhx9	G	T	1: 138,766,179 (GRCm39)	A212D	probably benign	Het
Myo6	C	T	9: 80,162,229 (GRCm39)	T322I	unknown	Het
Ndufaf4	A	G	4: 24,898,648 (GRCm39)	D71G	probably benign	Het
Nrp1	T	A	8: 129,214,434 (GRCm39)	S641T	probably benign	Het
Nudt7	A	T	8: 114,863,080 (GRCm39)	N37I	probably damaging	Het
Obscn	T	A	11: 58,913,066 (GRCm39)	I271F		Het
Or2ag16	T	C	7: 106,352,374 (GRCm39)	T74A	probably benign	Het
Or4d2b	G	A	11: 87,780,443 (GRCm39)	S93F	probably damaging	Het
Or6c5b	T	C	10: 129,245,975 (GRCm39)	S247P	probably damaging	Het
Or7g18	T	C	9: 18,787,126 (GRCm39)	Y168H	probably benign	Het
Or9g4b	A	G	2: 85,616,119 (GRCm39)	E88G	probably benign	Het
Oxa1l	T	C	14: 54,605,274 (GRCm39)	S317P	probably damaging	Het
Poglut2	A	T	1: 44,156,226 (GRCm39)	H120Q	probably benign	Het
Polr2a	C	T	11: 69,630,779 (GRCm39)	R1213H	probably damaging	Het
Postn	A	T	3: 54,283,468 (GRCm39)	S516C	probably null	Het
Rabep2	A	G	7: 126,039,580 (GRCm39)	T336A	possibly damaging	Het
Ralgapb	G	A	2: 158,285,256 (GRCm39)	C585Y	probably damaging	Het
Rexo4	A	G	2: 26,850,350 (GRCm39)	S276P	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCTGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sipa1l3	A	G	7: 29,099,789 (GRCm39)	L160P	probably damaging	Het
Sphkap	A	G	1: 83,256,492 (GRCm39)	F419S	probably benign	Het
Stag1	C	A	9: 100,811,946 (GRCm39)	T808K	probably benign	Het
Stam2	G	T	2: 52,604,931 (GRCm39)	N201K	possibly damaging	Het
Stat1	G	A	1: 52,194,178 (GRCm39)	R704Q	probably benign	Het
Tacc2	A	G	7: 130,331,303 (GRCm39)	D2236G	probably damaging	Het
Thsd7a	T	A	6: 12,379,592 (GRCm39)	Y944F		Het
Tmem225	G	T	9: 40,061,955 (GRCm39)	V190F	probably damaging	Het
Tonsl	A	T	15: 76,521,022 (GRCm39)	V400D	probably benign	Het
Tpp2	G	A	1: 44,022,712 (GRCm39)	G971D	probably damaging	Het
Trh	C	T	6: 92,220,050 (GRCm39)	V89I	probably benign	Het
Txlnb	A	G	10: 17,717,205 (GRCm39)	D404G	probably damaging	Het
Vmn1r179	T	A	7: 23,628,396 (GRCm39)	Y196N	possibly damaging	Het
Vmn2r8	T	C	5: 108,945,936 (GRCm39)	D557G	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	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
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
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'- AAAACACTGTTGTCGATCTCCTC -3'
(R):5'- TCAAGGATTTGCAGCGTAGGC -3'

Sequencing Primer
(F):5'- CTGTTGTCGATCTCCTCTAGAAGATG -3'
(R):5'- CTCAGTGCTAATGTTTGGTT -3'

Posted On

2020-07-28