Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Uggt2'

699157

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 #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119279006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 834 (Y834H)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

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

AlphaFold

E9Q4X2

Predicted Effect

probably damaging
Transcript: ENSMUST00000127153
AA Change: Y358H

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

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104
AA Change: Y358H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156203
AA Change: Y834H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: Y834H

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

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 107,931,638 (GRCm39)	A354T	probably damaging	Het
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,165,325 (GRCm39)	K857R	probably benign	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Pias2	T	A	18: 77,216,677 (GRCm39)	V296E	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,732,323 (GRCm39)	A322T	probably benign	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Upp2	T	C	2: 58,670,065 (GRCm39)	L257P	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	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
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
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'- CCTAGTGTGCAAAACCTGAGAG -3'
(R):5'- GGCTTTGTGAATGATTTGGCAAAAG -3'

Sequencing Primer
(F):5'- TGGACTGTATATCACACCACATC -3'
(R):5'- GTGAATGATTTGGCAAAAGAGTATC -3'

Posted On

2022-02-07