Mutagenetix > Incidental Mutation

Incidental Mutation 'R5423:Uggt2'

426725

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

042989-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119256898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1112 (T1112I)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

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

AlphaFold

E9Q4X2

Predicted Effect

probably benign
Transcript: ENSMUST00000127153

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153693

SMART Domains

Protein: ENSMUSP00000123327
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	1	106	3.3e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156203
AA Change: T1112I

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

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: T1112I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173391

SMART Domains

Protein: ENSMUSP00000133772
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	2	63	9.4e-18	PFAM
SCOP:d1ga8a_	77	216	3e-21	SMART

Meta Mutation Damage Score

0.9119

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (60/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts9	A	G	6: 92,857,678 (GRCm39)	I289T	possibly damaging	Het
Ak4	T	G	4: 101,317,760 (GRCm39)	I110S	probably damaging	Het
Arhgap9	T	G	10: 127,165,418 (GRCm39)	I609S	probably damaging	Het
Arid4a	C	A	12: 71,116,634 (GRCm39)	S242*	probably null	Het
Ceacam1	T	G	7: 25,173,951 (GRCm39)	I235L	probably benign	Het
Chil3	T	C	3: 106,055,978 (GRCm39)	D365G	probably damaging	Het
Ckap2	A	C	8: 22,667,212 (GRCm39)	S216R	probably benign	Het
Cyp2e1	G	T	7: 140,350,031 (GRCm39)	V239L	probably benign	Het
Dnah7b	T	A	1: 46,397,431 (GRCm39)	M3954K	probably benign	Het
Ercc6l2	A	T	13: 64,020,072 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,202,404 (GRCm39)	D468G	probably damaging	Het
Fbxo44	T	A	4: 148,238,686 (GRCm39)	I213F	probably benign	Het
Gm5084	A	G	13: 60,360,356 (GRCm39)		noncoding transcript	Het
Gpr17	G	A	18: 32,080,694 (GRCm39)	T123I	probably damaging	Het
Grin3a	A	G	4: 49,770,376 (GRCm39)		probably benign	Het
H2-D1	T	G	17: 35,484,883 (GRCm39)	L248R	probably damaging	Het
Hmcn1	T	C	1: 150,577,723 (GRCm39)	I2013V	probably damaging	Het
Hp1bp3	A	T	4: 137,953,208 (GRCm39)	D84V	probably damaging	Het
Ift140	T	C	17: 25,252,059 (GRCm39)	F33S	probably damaging	Het
Inhbc	C	G	10: 127,193,296 (GRCm39)	C240S	probably damaging	Het
Iqgap1	T	A	7: 80,449,610 (GRCm39)	E62V	probably damaging	Het
Kcna4	G	A	2: 107,126,151 (GRCm39)	W295*	probably null	Het
Kdm4a	C	T	4: 117,996,105 (GRCm39)	A975T	probably damaging	Het
Lrrtm3	T	C	10: 63,923,931 (GRCm39)	D412G	possibly damaging	Het
Midn	A	C	10: 79,991,027 (GRCm39)	I346L	probably benign	Het
Ndufa10	C	T	1: 92,390,042 (GRCm39)	D259N	probably benign	Het
Nefh	C	A	11: 4,890,985 (GRCm39)	A545S	possibly damaging	Het
Prpf8	A	G	11: 75,399,784 (GRCm39)	Y2281C	probably damaging	Het
Psip1	G	A	4: 83,378,367 (GRCm39)		probably benign	Het
Ptpro	G	T	6: 137,419,705 (GRCm39)	A184S	probably damaging	Het
Rab37	T	A	11: 115,047,853 (GRCm39)	I65K	possibly damaging	Het
Rasgrp4	T	C	7: 28,844,561 (GRCm39)	L247P	probably damaging	Het
Rnf20	T	C	4: 49,644,620 (GRCm39)	V295A	probably damaging	Het
Serpina3g	A	G	12: 104,204,253 (GRCm39)		probably benign	Het
Shox2	A	G	3: 66,881,087 (GRCm39)		probably benign	Het
Skint6	T	G	4: 112,707,937 (GRCm39)	D977A	possibly damaging	Het
Slc25a23	C	T	17: 57,360,597 (GRCm39)	V248M	probably damaging	Het
Slco1a7	T	A	6: 141,690,188 (GRCm39)	K188N	probably damaging	Het
Smg1	A	T	7: 117,745,294 (GRCm39)	D3008E	possibly damaging	Het
St18	A	G	1: 6,872,840 (GRCm39)	S192G	possibly damaging	Het
Supt20	T	A	3: 54,616,746 (GRCm39)	V306E	probably damaging	Het
T	T	C	17: 8,660,597 (GRCm39)	Y403H	probably damaging	Het
Tars3	C	A	7: 65,333,567 (GRCm39)	N588K	probably benign	Het
Tmem132c	T	C	5: 127,640,907 (GRCm39)	V1026A	probably benign	Het
Trpv4	T	C	5: 114,774,506 (GRCm39)	T193A	probably benign	Het
Ubqln4	A	G	3: 88,470,506 (GRCm39)	N326S	probably damaging	Het
Vasn	C	T	16: 4,466,284 (GRCm39)	P77L	probably benign	Het
Vps9d1	A	C	8: 123,974,704 (GRCm39)		probably null	Het
Washc4	C	A	10: 83,415,418 (GRCm39)	Q803K	possibly damaging	Het
Zcchc2	C	T	1: 105,958,430 (GRCm39)	T967I	probably damaging	Het
Zfp874a	G	A	13: 67,590,473 (GRCm39)	L404F	possibly damaging	Het
Zscan30	T	C	18: 24,104,773 (GRCm39)		noncoding transcript	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
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
R9203:Uggt2	UTSW	14	119,294,975 (GRCm39)	missense	probably benign	0.08
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'- AGATAGGACTTCATCATTCCTGAC -3'
(R):5'- AAATTGGTGGTTGGATCAGTTCAC -3'

Sequencing Primer
(F):5'- GACTGTAATCTGAGTCCCAGCAG -3'
(R):5'- TGTATAGGATTCATAATACCCAACCC -3'

Posted On

2016-09-01