Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Uggt2'

241453

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

040222-MU

Accession Numbers

Essential gene?

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

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119312749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 353 (N353K)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

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

AlphaFold

E9Q4X2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136924

Predicted Effect

probably damaging
Transcript: ENSMUST00000156203
AA Change: N353K

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

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: N353K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Ccdc83	G	A	7: 89,908,722 (GRCm39)	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,285,871 (GRCm39)	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or13a19	T	C	7: 139,903,484 (GRCm39)	S291P	probably benign	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	probably null	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
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
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'- TCTCTTAACTCCCGAGCATGGTG -3'
(R):5'- ATTCTCAGACTGGGCTGCAG -3'

Sequencing Primer
(F):5'- AGCATGGTGCCTGCCCTG -3'
(R):5'- GAAATGCCCTCCTGAAGCATTTGG -3'

Posted On

2014-10-15