Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01482:Uggt2'

88661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uggt2

Ensembl Gene

ENSMUSG00000042104

Gene Name

UDP-glucose glycoprotein glucosyltransferase 2

Synonyms

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

Accession Numbers

NCBI RefSeq: NM_001081252.2; MGI:1913685

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL01482

Quality Score

Status

Chromosome

Chromosomal Location

118985039-119099430 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119057645 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 523 (D523V)

Ref Sequence

ENSEMBL: ENSMUSP00000121249 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127153
AA Change: D47V

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

SMART Domains

Protein: ENSMUSP00000117738
Gene: ENSMUSG00000042104
AA Change: D47V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136924

Predicted Effect

probably damaging
Transcript: ENSMUST00000156203
AA Change: D523V

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

SMART Domains

Protein: ENSMUSP00000121249
Gene: ENSMUSG00000042104
AA Change: D523V

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	T	1: 120,171,471	D98V	probably benign	Het
Aatf	G	A	11: 84,470,710	R356C	possibly damaging	Het
Abca15	A	T	7: 120,382,746	T1095S	probably benign	Het
Abca9	A	G	11: 110,120,773	F1148S	probably benign	Het
Adam12	G	T	7: 133,967,848	D299E	probably damaging	Het
Alyref	A	T	11: 120,595,936	N166K	possibly damaging	Het
Atxn1	A	T	13: 45,557,314	I714N	probably benign	Het
Bves	A	G	10: 45,354,806	E291G	possibly damaging	Het
Chrm2	A	G	6: 36,523,757	N183S	possibly damaging	Het
Dennd2a	T	C	6: 39,480,309	H733R	probably damaging	Het
Erbb3	C	T	10: 128,572,929	G762S	possibly damaging	Het
Gm29326	A	C	7: 29,560,711		noncoding transcript	Het
Gm9866	T	A	12: 27,141,894		noncoding transcript	Het
Itgb2l	A	T	16: 96,438,748	L17Q	probably damaging	Het
Jade1	T	A	3: 41,613,502	D668E	probably benign	Het
Ksr1	G	A	11: 79,036,583	T308I	probably damaging	Het
Mfap4	A	G	11: 61,487,757	D177G	probably damaging	Het
Muc2	A	T	7: 141,754,060	I369F	probably damaging	Het
Mut	C	T	17: 40,956,271	R579C	probably damaging	Het
Myh13	A	T	11: 67,352,068	M936L	probably benign	Het
Nckap5	G	T	1: 126,023,160	S1598Y	probably damaging	Het
Nlrp10	T	A	7: 108,926,952	M60L	probably benign	Het
Nlrp12	T	C	7: 3,235,160	N739S	possibly damaging	Het
Olfr482	A	C	7: 108,095,486	V28G	probably benign	Het
Pappa	A	T	4: 65,156,034	H275L	probably benign	Het
Plekhm2	A	G	4: 141,630,029	S711P	probably damaging	Het
Ptpn1	G	A	2: 167,967,792	V107M	probably damaging	Het
Ptprf	G	A	4: 118,212,454	R1498C	probably damaging	Het
Rhobtb2	A	G	14: 69,796,588	I396T	possibly damaging	Het
Ryr1	A	G	7: 29,052,337	F3668S	probably damaging	Het
Serpinb6d	T	C	13: 33,671,363	V340A	probably benign	Het
Spaca3	G	T	11: 80,867,684	V158L	probably benign	Het
Tdp1	A	G	12: 99,891,380	N66S	probably benign	Het
Tmem132d	A	T	5: 128,269,206	I84N	probably damaging	Het
Usp17la	A	T	7: 104,859,393	M1L	probably benign	Het
Yeats2	C	T	16: 20,222,921	T1202I	probably damaging	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
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
R2907: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
R7938:Uggt2	UTSW	14	119059107	missense	possibly damaging	0.68
R8050:Uggt2	UTSW	14	119026422	missense	probably damaging	0.98
Z1177:Uggt2	UTSW	14	119007296	missense	probably damaging	1.00

Posted On

2013-11-18