Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:Uggt2'

609353

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

045943-MU

Accession Numbers

Essential gene?

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

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119280059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 806 (E806D)

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: E330D

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104
AA Change: E330D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156203
AA Change: E806D

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: E806D

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: 99.9%
10x: 99.7%
20x: 99.0%

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
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
9930111J21Rik2	T	C	11: 48,910,543 (GRCm39)	Q630R	probably benign	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Arid3b	A	G	9: 57,717,442 (GRCm39)	C233R	probably benign	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Chpf	T	C	1: 75,451,939 (GRCm39)	H667R	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Ehd3	A	G	17: 74,123,387 (GRCm39)	N130S	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Ushbp1	T	G	8: 71,841,422 (GRCm39)	Q469P	possibly damaging	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	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
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'- TCGTACAACCACATGTCATTCC -3'
(R):5'- AATGCTCAGCTGGAAAAGGC -3'

Sequencing Primer
(F):5'- ACATGTCATTCCCAACTTCTTATAC -3'
(R):5'- CAGTACTGGTCTAACCTGTCAATGTG -3'

Posted On

2019-12-20