Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Ugdh'

593441

Institutional Source

Beutler Lab

Gene Symbol

Ugdh

Ensembl Gene

ENSMUSG00000029201

Gene Name

UDP-glucose dehydrogenase

Synonyms

Udpgdh

MMRRC Submission

045756-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65570550-65593185 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65574958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 356 (Y356C)

Ref Sequence

ENSEMBL: ENSMUSP00000031103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031103]

AlphaFold

O70475

Predicted Effect

probably damaging
Transcript: ENSMUST00000031103
AA Change: Y356C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
AA Change: Y356C

Domain	Start	End	E-Value	Type
Pfam:UDPG_MGDP_dh_N	5	195	1.5e-63	PFAM
Pfam:UDPG_MGDP_dh	214	309	1.8e-34	PFAM
UDPG_MGDP_dh_C	332	447	1.89e-38	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutation of this gene results in developmental arrest during gastrulation with defects in endoderm and mesoderm migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,973,832 (GRCm39)	T390I	probably benign	Het
Adgb	A	G	10: 10,287,456 (GRCm39)		probably null	Het
Ado	G	T	10: 67,384,265 (GRCm39)	Y113*	probably null	Het
Angptl1	A	G	1: 156,672,885 (GRCm39)	E237G	probably damaging	Het
Arid2	T	A	15: 96,254,578 (GRCm39)	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739 (GRCm39)	I183T	probably benign	Het
Dnah1	T	C	14: 31,014,295 (GRCm39)	K1817E	probably benign	Het
Eif3e	C	A	15: 43,126,642 (GRCm39)	R271L	probably damaging	Het
Eml6	A	G	11: 29,703,085 (GRCm39)	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,660,739 (GRCm39)	Y634*	probably null	Het
Evi5l	C	T	8: 4,250,886 (GRCm39)	R394W	probably damaging	Het
Fcgr3	A	C	1: 170,881,661 (GRCm39)	F156V	probably damaging	Het
Fmo1	T	A	1: 162,661,402 (GRCm39)	T294S	probably benign	Het
Gabrb3	A	G	7: 57,466,203 (GRCm39)	Q339R	probably damaging	Het
Gen1	T	A	12: 11,292,167 (GRCm39)	T606S	probably benign	Het
Gfod1	T	C	13: 43,354,528 (GRCm39)	Q149R	probably benign	Het
Golm1	A	G	13: 59,788,071 (GRCm39)	V276A	probably benign	Het
Hc	C	A	2: 34,914,161 (GRCm39)	V849F	probably damaging	Het
Hectd4	T	C	5: 121,459,627 (GRCm39)	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,497,643 (GRCm39)	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,541,536 (GRCm39)	W94*	probably null	Het
Lzts3	T	C	2: 130,477,306 (GRCm39)	S381G	probably benign	Het
Mgat2	A	G	12: 69,231,444 (GRCm39)	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,934,439 (GRCm39)	I27T	probably benign	Het
Muc5b	A	T	7: 141,406,966 (GRCm39)	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,148,690 (GRCm39)	R99Q	probably benign	Het
Or10g1	T	C	14: 52,647,945 (GRCm39)	Y128C	probably damaging	Het
Or5b98	A	G	19: 12,931,006 (GRCm39)	T18A	possibly damaging	Het
Phlpp1	T	C	1: 106,209,132 (GRCm39)	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,109,776 (GRCm39)	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,333,997 (GRCm39)	L167V	probably damaging	Het
Sardh	A	G	2: 27,087,651 (GRCm39)	V740A	probably benign	Het
Sbno1	T	G	5: 124,543,709 (GRCm39)	T277P	probably benign	Het
Slc2a1	T	C	4: 118,993,462 (GRCm39)	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,134,308 (GRCm39)	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,625,179 (GRCm39)	S109A	probably benign	Het
Speg	A	G	1: 75,377,834 (GRCm39)	D864G	probably benign	Het
Steap4	T	C	5: 8,026,976 (GRCm39)	I313T	probably benign	Het
Tab2	A	T	10: 7,786,869 (GRCm39)	D614E	probably damaging	Het
Tenm4	A	G	7: 96,544,610 (GRCm39)	K2246E	probably damaging	Het
Timm23	A	G	14: 31,902,520 (GRCm39)	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,211 (GRCm39)	C181F	probably benign	Het
Ugt2a1	A	G	5: 87,634,586 (GRCm39)	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,619,905 (GRCm39)	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,804,827 (GRCm39)	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,505,490 (GRCm39)	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,283,141 (GRCm39)	P72L	not run	Het

Other mutations in Ugdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Ugdh	APN	5	65,574,248 (GRCm39)	missense	probably benign	0.12
IGL01734:Ugdh	APN	5	65,580,031 (GRCm39)	missense	probably benign
IGL02157:Ugdh	APN	5	65,580,035 (GRCm39)	missense	probably damaging	0.99
R1677:Ugdh	UTSW	5	65,580,521 (GRCm39)	missense	probably damaging	1.00
R1836:Ugdh	UTSW	5	65,577,634 (GRCm39)	nonsense	probably null
R1882:Ugdh	UTSW	5	65,580,939 (GRCm39)	missense	possibly damaging	0.86
R2020:Ugdh	UTSW	5	65,574,268 (GRCm39)	missense	probably damaging	1.00
R2166:Ugdh	UTSW	5	65,574,357 (GRCm39)	splice site	probably benign
R2256:Ugdh	UTSW	5	65,574,458 (GRCm39)	splice site	probably benign
R2257:Ugdh	UTSW	5	65,574,458 (GRCm39)	splice site	probably benign
R2332:Ugdh	UTSW	5	65,584,827 (GRCm39)	missense	possibly damaging	0.63
R4707:Ugdh	UTSW	5	65,580,695 (GRCm39)	splice site	probably null
R4913:Ugdh	UTSW	5	65,580,791 (GRCm39)	critical splice donor site	probably null
R5590:Ugdh	UTSW	5	65,580,217 (GRCm39)	unclassified	probably benign
R5644:Ugdh	UTSW	5	65,574,204 (GRCm39)	missense	probably benign	0.04
R5741:Ugdh	UTSW	5	65,584,866 (GRCm39)	missense	probably damaging	0.99
R6151:Ugdh	UTSW	5	65,574,924 (GRCm39)	nonsense	probably null
R6525:Ugdh	UTSW	5	65,574,402 (GRCm39)	missense	probably damaging	1.00
R6897:Ugdh	UTSW	5	65,584,776 (GRCm39)	missense	probably benign	0.07
R7155:Ugdh	UTSW	5	65,574,380 (GRCm39)	missense	probably damaging	1.00
R8178:Ugdh	UTSW	5	65,581,005 (GRCm39)	splice site	probably null
R8485:Ugdh	UTSW	5	65,584,902 (GRCm39)	missense	possibly damaging	0.50
R9361:Ugdh	UTSW	5	65,575,886 (GRCm39)	missense	probably damaging	1.00
R9565:Ugdh	UTSW	5	65,575,876 (GRCm39)	missense	possibly damaging	0.91
R9678:Ugdh	UTSW	5	65,581,470 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCATTCAAAGACAAGCCAGCTG -3'
(R):5'- AGAAGAGGACCTGTGTGTCTCC -3'

Sequencing Primer
(F):5'- ACAAGCCAGCTGTGTGG -3'
(R):5'- AAGAGGACCTGTGTGTCTCCTTTTTC -3'

Posted On

2019-11-12