Mutagenetix > Incidental Mutation

Incidental Mutation 'R9203:Uggt2'

698342

Institutional Source

Beutler Lab

Gene Symbol

Uggt2

Ensembl Gene

ENSMUSG00000042104

Gene Name

UDP-glucose glycoprotein glucosyltransferase 2

Synonyms

3110001A05Rik, A230065J02Rik, 3110027P15Rik, 1810064L21Rik, Ugcgl2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R9203 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119294975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 550 (H550Q)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127153] [ENSMUST00000156203]

AlphaFold

E9Q4X2

Predicted Effect

probably benign
Transcript: ENSMUST00000127153
AA Change: H74Q

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104
AA Change: H74Q

Domain	Start	End	E-Value	Type
low complexity region	327	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156203
AA Change: H550Q

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: H550Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:UDP-g_GGTase	23	1189	N/A	PFAM
SCOP:d1ga8a_	1219	1485	9e-44	SMART
Blast:BROMO	1377	1427	4e-16	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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]

Allele List at MGI

All alleles(5) : Targeted(2) Gene trapped(3)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	T	C	2: 128,465,422 (GRCm39)	H1686R	possibly damaging	Het
Ankrd33b	A	G	15: 31,298,028 (GRCm39)	M243T	probably benign	Het
Appl1	G	T	14: 26,682,970 (GRCm39)	S104*	probably null	Het
Appl2	A	T	10: 83,476,879 (GRCm39)	Y48*	probably null	Het
Cacna1d	T	C	14: 29,773,669 (GRCm39)	N1694S	probably benign	Het
Cc2d2a	G	T	5: 43,891,179 (GRCm39)	D1372Y	probably benign	Het
Cdh4	C	T	2: 179,422,196 (GRCm39)	R107C	probably damaging	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cfap54	T	G	10: 92,880,990 (GRCm39)	M358L	probably benign	Het
Csnka2ip	T	A	16: 64,298,630 (GRCm39)	D578V	unknown	Het
Ctns	T	C	11: 73,082,563 (GRCm39)	I56V	probably benign	Het
Dnah9	A	G	11: 65,746,113 (GRCm39)	I4000T	possibly damaging	Het
Dock2	A	G	11: 34,622,366 (GRCm39)	V91A	possibly damaging	Het
Dpep2	T	C	8: 106,712,885 (GRCm39)	H335R	probably damaging	Het
Eno1	C	T	4: 150,332,539 (GRCm39)	R400*	probably null	Het
Fam114a1	C	A	5: 65,137,300 (GRCm39)	P81H	probably damaging	Het
Gemin6	A	G	17: 80,535,237 (GRCm39)	T66A	probably benign	Het
Grm4	T	C	17: 27,653,980 (GRCm39)	I657V	probably benign	Het
H2ac22	T	C	13: 21,971,057 (GRCm39)	N111S	probably benign	Het
Has3	T	C	8: 107,600,852 (GRCm39)	C105R	probably damaging	Het
Hecw1	T	C	13: 14,491,243 (GRCm39)	E170G	probably benign	Het
Hoxd3	T	C	2: 74,576,744 (GRCm39)	V208A	probably damaging	Het
Hypk	C	T	2: 121,288,163 (GRCm39)	Q75*	probably null	Het
Itpkb	T	A	1: 180,161,004 (GRCm39)	W377R	probably benign	Het
Kbtbd2	A	T	6: 56,755,987 (GRCm39)	V583E	probably damaging	Het
Kdm5d	A	G	Y: 940,981 (GRCm39)	Y1122C	probably damaging	Het
Kif7	A	C	7: 79,354,472 (GRCm39)	L771R	probably damaging	Het
Krt9	C	G	11: 100,079,734 (GRCm39)	G553R	unknown	Het
Lama3	G	A	18: 12,595,869 (GRCm39)	A933T	probably benign	Het
Muc16	A	G	9: 18,462,984 (GRCm39)	I7406T	unknown	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Ntng2	G	T	2: 29,084,998 (GRCm39)	C535*	probably null	Het
Omg	A	G	11: 79,393,051 (GRCm39)	M269T	probably benign	Het
Or1x6	A	T	11: 50,939,161 (GRCm39)	T76S	possibly damaging	Het
Or52e3	A	T	7: 102,869,862 (GRCm39)	*312C	probably null	Het
Parp2	T	C	14: 51,056,850 (GRCm39)	S325P	probably benign	Het
Pclo	C	T	5: 14,728,528 (GRCm39)	T2462M	unknown	Het
Pi4ka	G	T	16: 17,100,165 (GRCm39)	H1912N		Het
Piezo2	T	C	18: 63,290,302 (GRCm39)	I152M	probably benign	Het
Pigv	A	T	4: 133,392,990 (GRCm39)	L60Q	probably damaging	Het
Plcz1	T	A	6: 139,953,481 (GRCm39)	K379*	probably null	Het
Poll	T	C	19: 45,542,091 (GRCm39)	N405S	probably benign	Het
Pou6f2	T	A	13: 18,303,615 (GRCm39)	I467F		Het
Pramel11	T	A	4: 143,623,646 (GRCm39)	N176I	probably benign	Het
Psg26	T	C	7: 18,212,382 (GRCm39)	I324M	probably damaging	Het
Ptprh	T	A	7: 4,574,970 (GRCm39)	I350F	probably damaging	Het
Slpi	C	T	2: 164,196,817 (GRCm39)	V126I	probably benign	Het
Smarca5	C	T	8: 81,431,258 (GRCm39)	W986*	probably null	Het
Sorcs1	A	G	19: 50,250,733 (GRCm39)	I366T	probably damaging	Het
Sv2c	G	T	13: 96,224,745 (GRCm39)	S188*	probably null	Het
Sycp2	T	C	2: 177,996,906 (GRCm39)	K1099R	probably damaging	Het
Tdp2	C	A	13: 25,020,916 (GRCm39)	Y178*	probably null	Het
Trabd2b	A	G	4: 114,460,122 (GRCm39)	E420G	probably damaging	Het
Vmn2r66	T	C	7: 84,654,950 (GRCm39)	K453R	probably benign	Het
Vsig10l	A	G	7: 43,112,657 (GRCm39)	M1V	probably null	Het
Wdr70	G	A	15: 7,902,684 (GRCm39)	S646L	probably benign	Het
Zfp219	A	T	14: 52,246,405 (GRCm39)	S241T	probably damaging	Het
Zfp24	G	A	18: 24,147,326 (GRCm39)	H329Y	probably damaging	Het

Other mutations in Uggt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Uggt2	APN	14	119,286,688 (GRCm39)	missense	possibly damaging	0.94
IGL00430:Uggt2	APN	14	119,263,841 (GRCm39)	nonsense	probably null
IGL00433:Uggt2	APN	14	119,250,899 (GRCm39)	missense	probably benign
IGL00572:Uggt2	APN	14	119,280,203 (GRCm39)	missense	probably benign	0.02
IGL00577:Uggt2	APN	14	119,272,312 (GRCm39)	missense	possibly damaging	0.89
IGL00671:Uggt2	APN	14	119,280,211 (GRCm39)	missense	possibly damaging	0.73
IGL01482:Uggt2	APN	14	119,295,057 (GRCm39)	missense	probably damaging	1.00
IGL01630:Uggt2	APN	14	119,280,184 (GRCm39)	missense	probably benign	0.00
IGL01787:Uggt2	APN	14	119,319,146 (GRCm39)	missense	probably damaging	0.99
IGL02063:Uggt2	APN	14	119,326,605 (GRCm39)	missense	possibly damaging	0.79
IGL02809:Uggt2	APN	14	119,328,150 (GRCm39)	missense	probably benign	0.17
IGL02894:Uggt2	APN	14	119,319,211 (GRCm39)	missense	probably damaging	0.96
IGL03062:Uggt2	APN	14	119,312,758 (GRCm39)	missense	probably damaging	1.00
IGL03139:Uggt2	APN	14	119,332,722 (GRCm39)	missense	probably benign	0.25
IGL03142:Uggt2	APN	14	119,235,603 (GRCm39)	missense	probably damaging	1.00
IGL03168:Uggt2	APN	14	119,315,080 (GRCm39)	missense	probably damaging	0.98
IGL03348:Uggt2	APN	14	119,308,300 (GRCm39)	missense	probably benign	0.38
P0014:Uggt2	UTSW	14	119,281,950 (GRCm39)	missense	probably damaging	1.00
R0006:Uggt2	UTSW	14	119,287,075 (GRCm39)	missense	probably benign	0.07
R0063:Uggt2	UTSW	14	119,244,542 (GRCm39)	splice site	probably benign
R0063:Uggt2	UTSW	14	119,244,542 (GRCm39)	splice site	probably benign
R0383:Uggt2	UTSW	14	119,286,863 (GRCm39)	missense	probably damaging	1.00
R0433:Uggt2	UTSW	14	119,312,741 (GRCm39)	critical splice donor site	probably null
R0472:Uggt2	UTSW	14	119,332,748 (GRCm39)	missense	probably damaging	1.00
R0609:Uggt2	UTSW	14	119,332,748 (GRCm39)	missense	probably damaging	1.00
R0645:Uggt2	UTSW	14	119,295,010 (GRCm39)	missense	probably benign	0.27
R0788:Uggt2	UTSW	14	119,332,812 (GRCm39)	splice site	probably benign
R0940:Uggt2	UTSW	14	119,328,604 (GRCm39)	critical splice donor site	probably null
R1567:Uggt2	UTSW	14	119,246,505 (GRCm39)	missense	possibly damaging	0.58
R1627:Uggt2	UTSW	14	119,295,075 (GRCm39)	missense	possibly damaging	0.95
R1682:Uggt2	UTSW	14	119,292,055 (GRCm39)	missense	probably benign	0.19
R1746:Uggt2	UTSW	14	119,250,915 (GRCm39)	missense	probably benign	0.00
R1785:Uggt2	UTSW	14	119,298,788 (GRCm39)	missense	probably damaging	1.00
R1786:Uggt2	UTSW	14	119,298,788 (GRCm39)	missense	probably damaging	1.00
R1799:Uggt2	UTSW	14	119,269,688 (GRCm39)	missense	probably benign	0.00
R1894:Uggt2	UTSW	14	119,287,130 (GRCm39)	missense	probably damaging	0.99
R1918:Uggt2	UTSW	14	119,245,467 (GRCm39)	splice site	probably benign
R2149:Uggt2	UTSW	14	119,312,757 (GRCm39)	missense	probably benign	0.02
R2168:Uggt2	UTSW	14	119,256,917 (GRCm39)	missense	probably damaging	1.00
R2219:Uggt2	UTSW	14	119,312,749 (GRCm39)	missense	probably damaging	1.00
R2220:Uggt2	UTSW	14	119,312,749 (GRCm39)	missense	probably damaging	1.00
R2240:Uggt2	UTSW	14	119,232,461 (GRCm39)	missense	probably damaging	1.00
R2331:Uggt2	UTSW	14	119,264,011 (GRCm39)	missense	possibly damaging	0.87
R2904:Uggt2	UTSW	14	119,296,521 (GRCm39)	missense	possibly damaging	0.74
R2906:Uggt2	UTSW	14	119,256,919 (GRCm39)	missense	probably benign	0.00
R2907:Uggt2	UTSW	14	119,256,919 (GRCm39)	missense	probably benign	0.00
R2908:Uggt2	UTSW	14	119,256,919 (GRCm39)	missense	probably benign	0.00
R2998:Uggt2	UTSW	14	119,286,797 (GRCm39)	missense	probably damaging	1.00
R3407:Uggt2	UTSW	14	119,328,682 (GRCm39)	missense	probably benign	0.39
R3722:Uggt2	UTSW	14	119,278,930 (GRCm39)	missense	probably damaging	1.00
R3749:Uggt2	UTSW	14	119,295,084 (GRCm39)	missense	probably benign	0.13
R4015:Uggt2	UTSW	14	119,263,845 (GRCm39)	missense	possibly damaging	0.47
R4016:Uggt2	UTSW	14	119,263,845 (GRCm39)	missense	possibly damaging	0.47
R4017:Uggt2	UTSW	14	119,263,845 (GRCm39)	missense	possibly damaging	0.47
R4206:Uggt2	UTSW	14	119,286,674 (GRCm39)	missense	probably damaging	1.00
R4536:Uggt2	UTSW	14	119,256,970 (GRCm39)	missense	probably benign
R4642:Uggt2	UTSW	14	119,272,347 (GRCm39)	missense	probably benign	0.00
R4654:Uggt2	UTSW	14	119,269,670 (GRCm39)	missense	possibly damaging	0.46
R4770:Uggt2	UTSW	14	119,266,466 (GRCm39)	splice site	probably null
R4810:Uggt2	UTSW	14	119,250,933 (GRCm39)	missense	probably damaging	1.00
R4832:Uggt2	UTSW	14	119,239,259 (GRCm39)	missense	probably damaging	0.99
R4856:Uggt2	UTSW	14	119,273,376 (GRCm39)	splice site	probably null
R4886:Uggt2	UTSW	14	119,273,376 (GRCm39)	splice site	probably null
R4888:Uggt2	UTSW	14	119,315,062 (GRCm39)	critical splice donor site	probably null
R4888:Uggt2	UTSW	14	119,286,665 (GRCm39)	missense	probably damaging	1.00
R4895:Uggt2	UTSW	14	119,256,298 (GRCm39)	missense	probably damaging	1.00
R5353:Uggt2	UTSW	14	119,319,182 (GRCm39)	missense	probably benign	0.00
R5423:Uggt2	UTSW	14	119,256,898 (GRCm39)	missense	probably damaging	1.00
R5476:Uggt2	UTSW	14	119,328,121 (GRCm39)	missense	probably benign	0.01
R5561:Uggt2	UTSW	14	119,278,939 (GRCm39)	missense	probably benign	0.02
R5607:Uggt2	UTSW	14	119,326,611 (GRCm39)	missense	possibly damaging	0.81
R5608:Uggt2	UTSW	14	119,326,611 (GRCm39)	missense	possibly damaging	0.81
R5625:Uggt2	UTSW	14	119,315,136 (GRCm39)	missense	probably damaging	1.00
R5698:Uggt2	UTSW	14	119,280,138 (GRCm39)	missense	probably damaging	1.00
R5986:Uggt2	UTSW	14	119,286,838 (GRCm39)	missense	probably damaging	1.00
R6031:Uggt2	UTSW	14	119,308,238 (GRCm39)	missense	probably benign	0.06
R6031:Uggt2	UTSW	14	119,308,238 (GRCm39)	missense	probably benign	0.06
R6056:Uggt2	UTSW	14	119,273,381 (GRCm39)	critical splice donor site	probably null
R6289:Uggt2	UTSW	14	119,279,014 (GRCm39)	missense	probably damaging	0.99
R6480:Uggt2	UTSW	14	119,294,976 (GRCm39)	missense	probably benign	0.01
R6515:Uggt2	UTSW	14	119,315,131 (GRCm39)	missense	possibly damaging	0.89
R6706:Uggt2	UTSW	14	119,308,293 (GRCm39)	missense	probably damaging	1.00
R6745:Uggt2	UTSW	14	119,280,022 (GRCm39)	missense	possibly damaging	0.58
R6819:Uggt2	UTSW	14	119,263,847 (GRCm39)	missense	probably damaging	1.00
R6879:Uggt2	UTSW	14	119,239,271 (GRCm39)	missense	probably benign	0.10
R7117:Uggt2	UTSW	14	119,251,938 (GRCm39)	missense	probably benign	0.25
R7183:Uggt2	UTSW	14	119,257,049 (GRCm39)	splice site	probably null
R7337:Uggt2	UTSW	14	119,323,587 (GRCm39)	missense	probably benign	0.28
R7342:Uggt2	UTSW	14	119,232,384 (GRCm39)	missense	possibly damaging	0.56
R7615:Uggt2	UTSW	14	119,326,681 (GRCm39)	missense	probably benign	0.12
R7625:Uggt2	UTSW	14	119,263,905 (GRCm39)	missense	probably damaging	1.00
R7685:Uggt2	UTSW	14	119,312,759 (GRCm39)	missense	probably damaging	1.00
R7842:Uggt2	UTSW	14	119,235,516 (GRCm39)	missense	probably damaging	1.00
R7891:Uggt2	UTSW	14	119,280,059 (GRCm39)	missense	probably benign	0.09
R7938:Uggt2	UTSW	14	119,296,519 (GRCm39)	missense	possibly damaging	0.68
R8050:Uggt2	UTSW	14	119,263,834 (GRCm39)	missense	probably damaging	0.98
R9007:Uggt2	UTSW	14	119,326,724 (GRCm39)	missense	probably damaging	1.00
R9080:Uggt2	UTSW	14	119,295,017 (GRCm39)	missense	probably benign	0.42
R9215:Uggt2	UTSW	14	119,279,006 (GRCm39)	missense	probably damaging	1.00
R9324:Uggt2	UTSW	14	119,312,741 (GRCm39)	critical splice donor site	probably null
R9459:Uggt2	UTSW	14	119,286,595 (GRCm39)	missense	probably benign	0.02
R9647:Uggt2	UTSW	14	119,256,312 (GRCm39)	missense	probably damaging	1.00
R9781:Uggt2	UTSW	14	119,232,384 (GRCm39)	missense	possibly damaging	0.56
Z1177:Uggt2	UTSW	14	119,244,708 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCTTATAATACTGGGACAATGG -3'
(R):5'- CTCTGATCTGGATGCTGCAGTG -3'

Sequencing Primer
(F):5'- ACTGGGACAATGGTATATACTTCAC -3'
(R):5'- ATGCTGCAGTGTGATATTTTAAGTAG -3'

Posted On

2022-02-07