Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02894:Uggt2'

363345

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uggt2

Ensembl Gene

ENSMUSG00000042104

Gene Name

UDP-glucose glycoprotein glucosyltransferase 2

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02894

Quality Score

Status

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119319211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 270 (I270M)

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: I270M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: I270M

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	T	A	14: 33,776,817 (GRCm39)		probably benign	Het
Aurka	T	A	2: 172,208,868 (GRCm39)		probably null	Het
Cacna2d3	C	T	14: 28,786,276 (GRCm39)		probably null	Het
Cdh12	A	G	15: 21,586,380 (GRCm39)	Y733C	probably damaging	Het
Cdon	A	T	9: 35,366,722 (GRCm39)	E199D	probably benign	Het
Celsr2	A	T	3: 108,302,526 (GRCm39)	L558Q	probably damaging	Het
Clcnkb	C	A	4: 141,135,130 (GRCm39)	R536L	probably benign	Het
Cyp3a11	G	A	5: 145,805,836 (GRCm39)	Q151*	probably null	Het
Dnah7a	A	T	1: 53,616,487 (GRCm39)	V1158E	probably benign	Het
Dnah8	G	T	17: 30,940,084 (GRCm39)	E1677*	probably null	Het
Dock3	T	C	9: 106,807,298 (GRCm39)	N1343S	probably benign	Het
Dock6	T	A	9: 21,723,111 (GRCm39)	E1603D	probably damaging	Het
Fam91a1	C	T	15: 58,315,080 (GRCm39)	T589M	probably benign	Het
Fat2	T	A	11: 55,147,479 (GRCm39)	N3921I	probably damaging	Het
Gm10188	A	G	1: 132,157,037 (GRCm39)		probably benign	Het
Grid2ip	A	G	5: 143,376,863 (GRCm39)	E976G	probably benign	Het
Hapln3	G	T	7: 78,771,521 (GRCm39)	Q123K	probably benign	Het
Hnrnpul1	G	A	7: 25,450,329 (GRCm39)	P128S	possibly damaging	Het
Hsd3b1	T	A	3: 98,760,245 (GRCm39)	I249F	possibly damaging	Het
Kbtbd3	A	T	9: 4,331,444 (GRCm39)	H606L	probably benign	Het
Krt82	T	C	15: 101,451,155 (GRCm39)	Y418C	probably damaging	Het
Mcm3ap	C	A	10: 76,313,601 (GRCm39)	A565E	probably benign	Het
Minar1	T	G	9: 89,485,155 (GRCm39)	I81L	probably damaging	Het
Naip2	A	G	13: 100,297,505 (GRCm39)	S844P	probably damaging	Het
Naip2	C	T	13: 100,320,297 (GRCm39)	V240I	probably benign	Het
Notch2	T	A	3: 98,009,748 (GRCm39)	C558*	probably null	Het
Npdc1	T	A	2: 25,298,007 (GRCm39)	H185Q	probably benign	Het
Or2a25	A	T	6: 42,888,451 (GRCm39)		probably benign	Het
Or4c31	T	G	2: 88,292,070 (GRCm39)	Y148D	probably damaging	Het
Or5d37	T	C	2: 87,924,107 (GRCm39)	I58V	possibly damaging	Het
Osbpl3	A	T	6: 50,323,312 (GRCm39)	I257N	possibly damaging	Het
Pkd1l2	T	A	8: 117,740,630 (GRCm39)	T2156S	probably damaging	Het
Ppp1r13b	A	G	12: 111,797,888 (GRCm39)		probably benign	Het
Ppp3ca	C	A	3: 136,503,573 (GRCm39)	H49N	probably damaging	Het
Prrc2c	A	T	1: 162,505,626 (GRCm39)	L1100I	probably damaging	Het
Ptpn21	A	C	12: 98,655,891 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Ptprq	T	A	10: 107,503,285 (GRCm39)	Q791L	probably benign	Het
Ptprz1	G	A	6: 23,035,148 (GRCm39)	R1966H	probably damaging	Het
Ralgapa1	T	A	12: 55,763,854 (GRCm39)	Q1404L	possibly damaging	Het
Reln	C	A	5: 22,090,546 (GRCm39)	M3437I	possibly damaging	Het
S100a7l2	A	T	3: 90,995,700 (GRCm39)	F67L	probably benign	Het
Slc13a1	T	C	6: 24,137,041 (GRCm39)		probably benign	Het
Slc4a11	T	C	2: 130,529,075 (GRCm39)		probably null	Het
Slc9a2	A	G	1: 40,802,762 (GRCm39)	E604G	probably benign	Het
Sod3	T	G	5: 52,525,348 (GRCm39)	S16A	possibly damaging	Het
Taok3	A	G	5: 117,401,678 (GRCm39)	I650V	probably benign	Het
Ugt3a1	T	A	15: 9,367,487 (GRCm39)	I410N	probably damaging	Het
Ush2a	G	A	1: 188,184,043 (GRCm39)	S1449N	probably damaging	Het
Usp29	A	T	7: 6,964,633 (GRCm39)	M159L	probably benign	Het
Vmn1r122	A	T	7: 20,867,649 (GRCm39)	F135L	probably benign	Het
Wdr11	T	C	7: 129,232,890 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,725,202 (GRCm39)		probably null	Het
Zfp955a	A	T	17: 33,461,426 (GRCm39)	C235*	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
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
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

Posted On

2015-12-18