Mutagenetix > Incidental Mutation

Incidental Mutation 'R2020:Ugdh'

223810

Institutional Source

Beutler Lab

Gene Symbol

Ugdh

Ensembl Gene

ENSMUSG00000029201

Gene Name

UDP-glucose dehydrogenase

Synonyms

Udpgdh

MMRRC Submission

040029-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R2020 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65413221-65435949 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65416925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 425 (Y425C)

Ref Sequence

ENSEMBL: ENSMUSP00000031103 (fasta)

Gene Model

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

AlphaFold

O70475

Predicted Effect

probably damaging
Transcript: ENSMUST00000031103
AA Change: Y425C

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

SMART Domains

Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
AA Change: Y425C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200016

Meta Mutation Damage Score

0.7349

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

99% (87/88)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	C	A	1: 158,968,912		noncoding transcript	Het
9530053A07Rik	T	C	7: 28,155,594	S1882P	probably benign	Het
Adam17	G	A	12: 21,349,875	R177C	probably damaging	Het
Ak7	G	A	12: 105,745,332		probably null	Het
Akap9	T	C	5: 3,961,967	V890A	probably damaging	Het
Alg6	A	G	4: 99,738,132	N59S	probably damaging	Het
Alkbh5	G	T	11: 60,538,549	A43S	probably benign	Het
Anxa2	C	A	9: 69,483,817	D162E	probably damaging	Het
Arap1	A	G	7: 101,401,518	H1136R	probably benign	Het
Arhgap18	A	G	10: 26,854,904	R121G	probably benign	Het
Arhgef4	A	T	1: 34,723,810	T716S	unknown	Het
Atg2a	T	C	19: 6,250,269		probably null	Het
Ccdc27	T	C	4: 154,033,313	I480V	probably null	Het
Cdipt	T	C	7: 126,976,933	V20A	possibly damaging	Het
Cgrrf1	C	T	14: 46,830,445		probably benign	Het
Chd7	G	A	4: 8,855,226	V2152I	probably benign	Het
Chd8	T	A	14: 52,215,241	S1274C	probably damaging	Het
Chuk	A	T	19: 44,107,343	M17K	possibly damaging	Het
Col14a1	C	T	15: 55,446,181		probably benign	Het
Col20a1	G	A	2: 181,013,163		probably null	Het
Cped1	A	G	6: 22,143,964	I570V	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Ddx27	A	C	2: 167,033,771	Q674P	probably damaging	Het
Dennd6a	T	A	14: 26,612,003	F131L	probably damaging	Het
Dhx38	G	A	8: 109,556,869		probably benign	Het
Dido1	G	T	2: 180,659,585	N2175K	unknown	Het
Dmxl1	T	A	18: 49,889,558	Y1654*	probably null	Het
Dock7	T	A	4: 98,959,101	H1658L	probably damaging	Het
Dync2h1	T	A	9: 7,122,772	E2061D	probably damaging	Het
Dync2h1	T	C	9: 7,162,925	I555V	probably benign	Het
Eif2ak2	T	C	17: 78,863,963	E337G	possibly damaging	Het
Fabp12	T	A	3: 10,250,149	D46V	probably benign	Het
Fech	C	T	18: 64,478,727	E79K	probably damaging	Het
Flnc	A	T	6: 29,444,363	I693F	probably damaging	Het
Foxp2	G	A	6: 15,324,644	C97Y	possibly damaging	Het
Grin2b	A	G	6: 135,733,896	M884T	probably benign	Het
Gtf2ird1	T	C	5: 134,417,093	D28G	probably damaging	Het
Gtf3c4	C	A	2: 28,833,894	G468W	possibly damaging	Het
Ift172	A	T	5: 31,267,241	L201*	probably null	Het
Il1rl2	C	A	1: 40,365,214	S498R	probably damaging	Het
Ildr1	C	T	16: 36,725,541	R489W	probably damaging	Het
Itga10	G	A	3: 96,652,490	G487D	probably damaging	Het
Klk8	A	G	7: 43,799,216	N128D	probably benign	Het
Lgr6	G	A	1: 135,075,275	T79M	probably damaging	Het
Med6	T	C	12: 81,573,877	T232A	probably benign	Het
Mgat4e	A	G	1: 134,541,322	L328P	probably damaging	Het
Mttp	A	G	3: 138,118,402	Y138H	probably damaging	Het
Ngef	T	C	1: 87,545,968	R31G	probably benign	Het
Nipsnap2	C	A	5: 129,753,223		probably null	Het
Nlgn2	G	T	11: 69,828,441	N194K	probably damaging	Het
Olfr1026	A	G	2: 85,923,743	I158M	probably benign	Het
Olfr1245	A	T	2: 89,574,961	M255K	possibly damaging	Het
Olfr1450	G	A	19: 12,954,332	V248I	possibly damaging	Het
Olfr357	G	A	2: 36,997,652	V281M	possibly damaging	Het
Olfr894	A	G	9: 38,219,432	Y203C	possibly damaging	Het
Pcca	T	A	14: 122,813,222	M101K	possibly damaging	Het
Plekha6	A	G	1: 133,284,970	T671A	possibly damaging	Het
Prex2	G	A	1: 11,162,312	V868M	probably damaging	Het
Prkcq	G	A	2: 11,279,521	V501I	probably benign	Het
Prom1	T	A	5: 44,011,253		probably benign	Het
Ptprd	A	G	4: 76,133,161	V41A	probably damaging	Het
Rab39	C	T	9: 53,686,398	G189E	possibly damaging	Het
Ret	T	C	6: 118,180,382	K236E	possibly damaging	Het
Rfx6	G	A	10: 51,720,057		probably null	Het
Rnf213	A	G	11: 119,461,918	T3916A	probably damaging	Het
Rpn1	A	G	6: 88,095,683	N336S	probably damaging	Het
Sag	G	A	1: 87,805,315	A2T	probably damaging	Het
Sco2	T	C	15: 89,371,860	Y197C	probably damaging	Het
Sec23b	T	C	2: 144,566,944	I183T	possibly damaging	Het
Sec24b	C	T	3: 129,987,728	V1166M	probably damaging	Het
Slc27a5	A	T	7: 12,993,412	F361Y	probably damaging	Het
Spaca9	A	G	2: 28,696,001	L17P	probably damaging	Het
Sqor	T	C	2: 122,804,107		probably null	Het
Stx18	A	G	5: 38,135,244	H230R	probably damaging	Het
Tas2r130	A	T	6: 131,630,769	I21N	probably damaging	Het
Tcaf3	A	G	6: 42,593,724	S365P	possibly damaging	Het
Tinagl1	G	A	4: 130,166,972	H351Y	probably damaging	Het
Tmc2	T	C	2: 130,232,385	Y333H	probably damaging	Het
Trp53bp2	A	T	1: 182,442,819	T395S	probably damaging	Het
Tsc22d1	T	C	14: 76,418,333	S751P	probably damaging	Het
Ttc30a1	A	G	2: 75,980,935	V268A	probably benign	Het
Ttn	A	G	2: 76,827,024		probably benign	Het
Vmn1r115	G	A	7: 20,844,169	L273F	probably null	Het
Vmn2r109	A	T	17: 20,541,186	C636*	probably null	Het
Vmn2r59	A	C	7: 42,043,779	Y466D	probably damaging	Het
Zic5	C	T	14: 122,464,830	G163D	unknown	Het

Other mutations in Ugdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Ugdh	APN	5	65416905	missense	probably benign	0.12
IGL01734:Ugdh	APN	5	65422688	missense	probably benign
IGL02157:Ugdh	APN	5	65422692	missense	probably damaging	0.99
R1677:Ugdh	UTSW	5	65423178	missense	probably damaging	1.00
R1836:Ugdh	UTSW	5	65420291	nonsense	probably null
R1882:Ugdh	UTSW	5	65423596	missense	possibly damaging	0.86
R2166:Ugdh	UTSW	5	65417014	splice site	probably benign
R2256:Ugdh	UTSW	5	65417115	splice site	probably benign
R2257:Ugdh	UTSW	5	65417115	splice site	probably benign
R2332:Ugdh	UTSW	5	65427484	missense	possibly damaging	0.63
R4707:Ugdh	UTSW	5	65423352	splice site	probably null
R4913:Ugdh	UTSW	5	65423448	critical splice donor site	probably null
R5590:Ugdh	UTSW	5	65422874	unclassified	probably benign
R5644:Ugdh	UTSW	5	65416861	missense	probably benign	0.04
R5741:Ugdh	UTSW	5	65427523	missense	probably damaging	0.99
R6151:Ugdh	UTSW	5	65417581	nonsense	probably null
R6525:Ugdh	UTSW	5	65417059	missense	probably damaging	1.00
R6897:Ugdh	UTSW	5	65427433	missense	probably benign	0.07
R7155:Ugdh	UTSW	5	65417037	missense	probably damaging	1.00
R7692:Ugdh	UTSW	5	65417615	missense	probably damaging	1.00
R8178:Ugdh	UTSW	5	65423662	splice site	probably null
R8485:Ugdh	UTSW	5	65427559	missense	possibly damaging	0.50
R9361:Ugdh	UTSW	5	65418543	missense	probably damaging	1.00
R9565:Ugdh	UTSW	5	65418533	missense	possibly damaging	0.91
R9678:Ugdh	UTSW	5	65424127	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CCATCAATGGGTTCACAGATCG -3'
(R):5'- ATTTCCAAGGACCCATACGAAG -3'

Sequencing Primer
(F):5'- GGCGAACTGACTCTACAAAGTTGTC -3'
(R):5'- ACCCATACGAAGCGTGTG -3'

Posted On

2014-08-25