Mutagenetix > Incidental Mutations

Incidental Mutation 'R2907:Uggt2'

261709

Institutional Source

Beutler Lab

Gene Symbol

Uggt2

Ensembl Gene

ENSMUSG00000042104

Gene Name

UDP-glucose glycoprotein glucosyltransferase 2

Synonyms

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

MMRRC Submission

040494-MU

Accession Numbers

NCBI RefSeq: NM_001081252.2; MGI:1913685

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R2907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118985039-119099430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119019507 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1105 (S1105N)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000153693

SMART Domains

Protein: ENSMUSP00000123327
Gene: ENSMUSG00000042104

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156203
AA Change: S1105N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: S1105N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173391

SMART Domains

Protein: ENSMUSP00000133772
Gene: ENSMUSG00000042104

Domain	Start	End	E-Value	Type
Pfam:UDP-g_GGTase	2	63	9.4e-18	PFAM
SCOP:d1ga8a_	77	216	3e-21	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (37/38)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,567,297	E385G	probably damaging	Het
Adam32	A	T	8: 24,863,504	W690R	probably damaging	Het
Ap1b1	T	A	11: 5,031,641	N516K	probably damaging	Het
Arap3	G	A	18: 37,990,527	P452L	possibly damaging	Het
Armcx6	A	T	X: 134,749,450	C211S	probably damaging	Het
Asns	A	G	6: 7,675,506	S499P	probably benign	Het
Aspn	G	T	13: 49,551,898	V79F	probably damaging	Het
Astn2	A	G	4: 65,644,856	I844T	possibly damaging	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atp7b	G	A	8: 22,011,554	T781I	probably damaging	Het
Bcl6	G	A	16: 23,968,119	R641W	probably damaging	Het
Csmd3	T	A	15: 48,011,053	I612F	probably damaging	Het
Dnm1l	A	T	16: 16,314,311	S666T	probably damaging	Het
Gucy2c	A	T	6: 136,708,387	V852E	probably damaging	Het
H2-T3	G	A	17: 36,187,455	R233C	possibly damaging	Het
Igfbp4	A	G	11: 99,041,551		probably benign	Het
Igkv16-104	T	C	6: 68,425,927	I68T	probably damaging	Het
Kansl1	T	A	11: 104,424,460	S251C	possibly damaging	Het
Kcnk1	G	T	8: 125,995,799	V114L	probably benign	Het
Klra3	G	T	6: 130,333,339	Q73K	probably damaging	Het
Mcpt1	T	C	14: 56,020,123	V242A	probably damaging	Het
Nek10	C	A	14: 14,980,613	Q990K	possibly damaging	Het
Nlrp4d	A	T	7: 10,378,427	V605E	probably benign	Het
Olfr1176	T	C	2: 88,340,483	I306T	probably benign	Het
Olfr1437	T	C	19: 12,322,668	D53G	probably damaging	Het
Olfr1490	C	T	19: 13,655,247	P268S	possibly damaging	Het
Osbpl1a	A	G	18: 12,871,072		probably benign	Het
Otud4	T	A	8: 79,673,068	S803T	probably benign	Het
Pax9	C	T	12: 56,709,744	T289I	probably benign	Het
Pcdha5	A	C	18: 36,960,815	I126L	possibly damaging	Het
Psmd4	G	T	3: 95,033,962	A55E	probably damaging	Het
Rab36	G	A	10: 75,044,496	V63I	probably damaging	Het
Rbm26	T	A	14: 105,142,834	T516S	probably benign	Het
Sdr42e1	G	A	8: 117,662,772	L377F	probably damaging	Het
Setdb1	T	C	3: 95,327,201		probably benign	Het
Uba3	T	C	6: 97,203,553	E21G	probably benign	Het
Zfp113	T	C	5: 138,144,957	N344D	probably benign	Het
Zfp738	T	C	13: 67,670,112	I587V	probably benign	Het

Other mutations in Uggt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Uggt2	APN	14	119049276	missense	possibly damaging	0.94
IGL00430:Uggt2	APN	14	119026429	nonsense	probably null
IGL00433:Uggt2	APN	14	119013487	missense	probably benign
IGL00572:Uggt2	APN	14	119042791	missense	probably benign	0.02
IGL00577:Uggt2	APN	14	119034900	missense	possibly damaging	0.89
IGL00671:Uggt2	APN	14	119042799	missense	possibly damaging	0.73
IGL01482:Uggt2	APN	14	119057645	missense	probably damaging	1.00
IGL01630:Uggt2	APN	14	119042772	missense	probably benign	0.00
IGL01787:Uggt2	APN	14	119081734	missense	probably damaging	0.99
IGL02063:Uggt2	APN	14	119089193	missense	possibly damaging	0.79
IGL02809:Uggt2	APN	14	119090738	missense	probably benign	0.17
IGL02894:Uggt2	APN	14	119081799	missense	probably damaging	0.96
IGL03062:Uggt2	APN	14	119075346	missense	probably damaging	1.00
IGL03139:Uggt2	APN	14	119095310	missense	probably benign	0.25
IGL03142:Uggt2	APN	14	118998191	missense	probably damaging	1.00
IGL03168:Uggt2	APN	14	119077668	missense	probably damaging	0.98
IGL03348:Uggt2	APN	14	119070888	missense	probably benign	0.38
P0014:Uggt2	UTSW	14	119044538	missense	probably damaging	1.00
R0006:Uggt2	UTSW	14	119049663	missense	probably benign	0.07
R0063:Uggt2	UTSW	14	119007130	splice site	probably benign
R0063:Uggt2	UTSW	14	119007130	splice site	probably benign
R0383:Uggt2	UTSW	14	119049451	missense	probably damaging	1.00
R0433:Uggt2	UTSW	14	119075329	critical splice donor site	probably null
R0472:Uggt2	UTSW	14	119095336	missense	probably damaging	1.00
R0609:Uggt2	UTSW	14	119095336	missense	probably damaging	1.00
R0645:Uggt2	UTSW	14	119057598	missense	probably benign	0.27
R0788:Uggt2	UTSW	14	119095400	splice site	probably benign
R0940:Uggt2	UTSW	14	119091192	critical splice donor site	probably null
R1567:Uggt2	UTSW	14	119009093	missense	possibly damaging	0.58
R1627:Uggt2	UTSW	14	119057663	missense	possibly damaging	0.95
R1682:Uggt2	UTSW	14	119054643	missense	probably benign	0.19
R1746:Uggt2	UTSW	14	119013503	missense	probably benign	0.00
R1785:Uggt2	UTSW	14	119061376	missense	probably damaging	1.00
R1786:Uggt2	UTSW	14	119061376	missense	probably damaging	1.00
R1799:Uggt2	UTSW	14	119032276	missense	probably benign	0.00
R1894:Uggt2	UTSW	14	119049718	missense	probably damaging	0.99
R1918:Uggt2	UTSW	14	119008055	splice site	probably benign
R2149:Uggt2	UTSW	14	119075345	missense	probably benign	0.02
R2168:Uggt2	UTSW	14	119019505	missense	probably damaging	1.00
R2219:Uggt2	UTSW	14	119075337	missense	probably damaging	1.00
R2220:Uggt2	UTSW	14	119075337	missense	probably damaging	1.00
R2240:Uggt2	UTSW	14	118995049	missense	probably damaging	1.00
R2331:Uggt2	UTSW	14	119026599	missense	possibly damaging	0.87
R2904:Uggt2	UTSW	14	119059109	missense	possibly damaging	0.74
R2906:Uggt2	UTSW	14	119019507	missense	probably benign	0.00
R2908:Uggt2	UTSW	14	119019507	missense	probably benign	0.00
R2998:Uggt2	UTSW	14	119049385	missense	probably damaging	1.00
R3407:Uggt2	UTSW	14	119091270	missense	probably benign	0.39
R3722:Uggt2	UTSW	14	119041518	missense	probably damaging	1.00
R3749:Uggt2	UTSW	14	119057672	missense	probably benign	0.13
R4015:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4016:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4017:Uggt2	UTSW	14	119026433	missense	possibly damaging	0.47
R4206:Uggt2	UTSW	14	119049262	missense	probably damaging	1.00
R4536:Uggt2	UTSW	14	119019558	missense	probably benign
R4642:Uggt2	UTSW	14	119034935	missense	probably benign	0.00
R4654:Uggt2	UTSW	14	119032258	missense	possibly damaging	0.46
R4770:Uggt2	UTSW	14	119029054	splice site	probably null
R4810:Uggt2	UTSW	14	119013521	missense	probably damaging	1.00
R4832:Uggt2	UTSW	14	119001847	missense	probably damaging	0.99
R4856:Uggt2	UTSW	14	119035964	splice site	probably null
R4886:Uggt2	UTSW	14	119035964	splice site	probably null
R4888:Uggt2	UTSW	14	119049253	missense	probably damaging	1.00
R4888:Uggt2	UTSW	14	119077650	critical splice donor site	probably null
R4895:Uggt2	UTSW	14	119018886	missense	probably damaging	1.00
R5353:Uggt2	UTSW	14	119081770	missense	probably benign	0.00
R5423:Uggt2	UTSW	14	119019486	missense	probably damaging	1.00
R5476:Uggt2	UTSW	14	119090709	missense	probably benign	0.01
R5561:Uggt2	UTSW	14	119041527	missense	probably benign	0.02
R5607:Uggt2	UTSW	14	119089199	missense	possibly damaging	0.81
R5608:Uggt2	UTSW	14	119089199	missense	possibly damaging	0.81
R5625:Uggt2	UTSW	14	119077724	missense	probably damaging	1.00
R5698:Uggt2	UTSW	14	119042726	missense	probably damaging	1.00
R5986:Uggt2	UTSW	14	119049426	missense	probably damaging	1.00
R6031:Uggt2	UTSW	14	119070826	missense	probably benign	0.06
R6031:Uggt2	UTSW	14	119070826	missense	probably benign	0.06
R6056:Uggt2	UTSW	14	119035969	critical splice donor site	probably null
R6289:Uggt2	UTSW	14	119041602	missense	probably damaging	0.99
R6480:Uggt2	UTSW	14	119057564	missense	probably benign	0.01
R6515:Uggt2	UTSW	14	119077719	missense	possibly damaging	0.89
R6706:Uggt2	UTSW	14	119070881	missense	probably damaging	1.00
R6745:Uggt2	UTSW	14	119042610	missense	possibly damaging	0.58
R6819:Uggt2	UTSW	14	119026435	missense	probably damaging	1.00
R6879:Uggt2	UTSW	14	119001859	missense	probably benign	0.10
R7117:Uggt2	UTSW	14	119014526	missense	probably benign	0.25
R7183:Uggt2	UTSW	14	119019637	splice site	probably null
R7337:Uggt2	UTSW	14	119086175	missense	probably benign	0.28
R7342:Uggt2	UTSW	14	118994972	missense	possibly damaging	0.56
R7615:Uggt2	UTSW	14	119089269	missense	probably benign	0.12
R7625:Uggt2	UTSW	14	119026493	missense	probably damaging	1.00
R7685:Uggt2	UTSW	14	119075347	missense	probably damaging	1.00
R7842:Uggt2	UTSW	14	118998104	missense	probably damaging	1.00
R7891:Uggt2	UTSW	14	119042647	missense	probably benign	0.09
R7925:Uggt2	UTSW	14	118998104	missense	probably damaging	1.00
R7974:Uggt2	UTSW	14	119042647	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ATAGGACTTCATCATTCCTGACTC -3'
(R):5'- AAATTGGTGGTTGGATCAGTTCAC -3'

Sequencing Primer
(F):5'- GACTGTAATCTGAGTCCCAGCAG -3'
(R):5'- TGGATCAGTTCACTTATGTGTTTAAG -3'

Posted On

2015-01-23