Mutagenetix > Incidental Mutation

Incidental Mutation 'R4015:Uggt2'

311920

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

040952-MU

Accession Numbers

Essential gene?

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

Stock #

R4015 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119222451-119336842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119263845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 1062 (N1062D)

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

unknown
Transcript: ENSMUST00000153693
AA Change: N100D

SMART Domains

Protein: ENSMUSP00000123327
Gene: ENSMUSG00000042104
AA Change: N100D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156203
AA Change: N1062D

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: N1062D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

97% (38/39)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	T	1: 75,151,135 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,358,331 (GRCm39)	D580G	probably damaging	Het
Ccdc66	A	G	14: 27,205,793 (GRCm39)	I898T	probably damaging	Het
Celf3	T	C	3: 94,394,505 (GRCm39)	V202A	probably benign	Het
Cfap161	C	T	7: 83,429,479 (GRCm39)	G180S	probably benign	Het
Col5a2	T	C	1: 45,442,631 (GRCm39)	I605V	probably benign	Het
Coq6	A	G	12: 84,413,671 (GRCm39)	H67R	probably benign	Het
Cyp2b19	T	C	7: 26,461,768 (GRCm39)	F196S	probably damaging	Het
Cyp4a14	G	T	4: 115,348,331 (GRCm39)	P382Q	probably damaging	Het
Dctpp1	G	A	7: 126,856,285 (GRCm39)	R146C	probably damaging	Het
Ddias	T	C	7: 92,509,069 (GRCm39)	K282R	probably benign	Het
Dnah10	A	G	5: 124,854,990 (GRCm39)	Q1965R	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Igf2bp2	T	C	16: 21,882,426 (GRCm39)	N425S	probably damaging	Het
Lrp1b	A	G	2: 40,692,996 (GRCm39)	F3401L	possibly damaging	Het
Mocs2	T	C	13: 114,957,334 (GRCm39)		probably benign	Het
Muc5b	G	A	7: 141,417,367 (GRCm39)	V3438M	probably benign	Het
Myo3a	A	G	2: 22,468,182 (GRCm39)	R479G	possibly damaging	Het
Nalcn	T	G	14: 123,723,799 (GRCm39)	E422A	probably damaging	Het
Pcdh17	T	C	14: 84,684,547 (GRCm39)	V338A	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbm12b1	T	C	4: 12,145,491 (GRCm39)	S488P	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Srcap	C	A	7: 127,124,595 (GRCm39)	P255Q	probably benign	Het
Sult6b2	T	A	6: 142,735,988 (GRCm39)	N202I	possibly damaging	Het
Tcf7l1	A	G	6: 72,613,382 (GRCm39)		probably benign	Het
Tef	T	C	15: 81,707,806 (GRCm39)	V261A	probably damaging	Het
Trio	C	T	15: 27,744,187 (GRCm39)	V2582I	possibly damaging	Het
Tyr	A	G	7: 87,087,148 (GRCm39)	S455P	probably benign	Het
Unc13b	G	A	4: 43,237,801 (GRCm39)	G3441R	probably damaging	Het
Vmn1r214	G	A	13: 23,219,520 (GRCm39)	C338Y	probably benign	Het
Wdr70	A	T	15: 8,108,698 (GRCm39)	C149*	probably null	Het
Zfp867	A	G	11: 59,354,520 (GRCm39)	F270L	probably damaging	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
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'- TGTACATACACGCATGGCTTG -3'
(R):5'- TAGCACAGATACTCTAACTCAGCTC -3'

Sequencing Primer
(F):5'- TACATACACGCATGGCTTGAAAGTAG -3'
(R):5'- AACAGCTTTTACCGTTTTGTTCTGG -3'

Posted On

2015-04-29