Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Ugp2'

418434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugp2

Ensembl Gene

ENSMUSG00000001891

Gene Name

UDP-glucose pyrophosphorylase 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

21321138-21371201 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 21329722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060895] [ENSMUST00000102875]

AlphaFold

Q91ZJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000060895

SMART Domains

Protein: ENSMUSP00000056324
Gene: ENSMUSG00000001891

Domain	Start	End	E-Value	Type
low complexity region	14	29	N/A	INTRINSIC
Pfam:UDPGP	43	462	2.1e-197	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102875

SMART Domains

Protein: ENSMUSP00000099939
Gene: ENSMUSG00000001891

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
Pfam:UDPGP	55	473	3.5e-201	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133343

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in Ugp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ugp2	APN	11	21354345	missense	probably benign
IGL01161:Ugp2	APN	11	21323273	missense	possibly damaging	0.82
IGL01759:Ugp2	APN	11	21353447	missense	probably benign	0.01
IGL03037:Ugp2	APN	11	21332540	nonsense	probably null
bittern	UTSW	11	21322051	splice site	probably null
PIT4377001:Ugp2	UTSW	11	21370203	start codon destroyed	probably null	0.33
R1538:Ugp2	UTSW	11	21333791	missense	possibly damaging	0.88
R1658:Ugp2	UTSW	11	21333774	missense	probably benign
R1771:Ugp2	UTSW	11	21329915	missense	probably damaging	1.00
R1874:Ugp2	UTSW	11	21329048	missense	probably damaging	1.00
R1970:Ugp2	UTSW	11	21328942	missense	probably damaging	0.99
R2143:Ugp2	UTSW	11	21328949	missense	probably benign
R2431:Ugp2	UTSW	11	21329025	missense	probably damaging	1.00
R3888:Ugp2	UTSW	11	21353366	missense	probably benign	0.01
R4352:Ugp2	UTSW	11	21329026	missense	probably damaging	0.99
R5018:Ugp2	UTSW	11	21331052	missense	probably damaging	1.00
R6125:Ugp2	UTSW	11	21329815	missense	probably damaging	0.97
R6388:Ugp2	UTSW	11	21322051	splice site	probably null
R6466:Ugp2	UTSW	11	21328883	missense	probably benign	0.01
R6626:Ugp2	UTSW	11	21331028	missense	probably damaging	1.00
R7219:Ugp2	UTSW	11	21323271	missense	probably damaging	1.00
R7822:Ugp2	UTSW	11	21333762	missense	probably benign

Posted On

2016-08-02