Mutagenetix > Incidental Mutation

Incidental Mutation 'R5590:Ugdh'

437419

Institutional Source

Beutler Lab

Gene Symbol

Ugdh

Ensembl Gene

ENSMUSG00000029201

Gene Name

UDP-glucose dehydrogenase

Synonyms

Udpgdh

MMRRC Submission

043143-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R5590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65570550-65593185 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 65580217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031103] [ENSMUST00000131263] [ENSMUST00000196121]

AlphaFold

O70475

Predicted Effect

probably benign
Transcript: ENSMUST00000031103

SMART Domains

Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201

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

probably benign
Transcript: ENSMUST00000131263

SMART Domains

Protein: ENSMUSP00000118999
Gene: ENSMUSG00000029201

Domain	Start	End	E-Value	Type
Pfam:UDPG_MGDP_dh_N	5	157	4e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139402

Predicted Effect

probably benign
Transcript: ENSMUST00000196121

SMART Domains

Protein: ENSMUSP00000143665
Gene: ENSMUSG00000105835

Domain	Start	End	E-Value	Type
Pfam:UDPG_MGDP_dh_N	5	50	6.4e-13	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (108/108)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	T	G	4: 124,504,280 (GRCm39)	M91L	unknown	Het
A2m	C	T	6: 121,653,891 (GRCm39)	T1408M	probably damaging	Het
Abca16	C	T	7: 120,143,995 (GRCm39)	T1671M	probably damaging	Het
Adamts8	A	T	9: 30,862,632 (GRCm39)	N279I	probably damaging	Het
Adgre1	T	A	17: 57,752,034 (GRCm39)	I594N	probably damaging	Het
Aldh4a1	T	A	4: 139,369,415 (GRCm39)	V322E	probably damaging	Het
Atp12a	A	T	14: 56,610,837 (GRCm39)	Y327F	probably benign	Het
C4b	T	C	17: 34,959,309 (GRCm39)	T422A	probably damaging	Het
Cacna1c	A	T	6: 118,664,143 (GRCm39)	S668T	probably damaging	Het
Cchcr1	A	T	17: 35,837,577 (GRCm39)	E426D	probably damaging	Het
Ccr3	G	A	9: 123,828,830 (GRCm39)	G55D	probably damaging	Het
Cdipt	T	A	7: 126,578,704 (GRCm39)		probably null	Het
Cep19	A	G	16: 31,922,716 (GRCm39)		probably benign	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Cyp3a11	C	A	5: 145,802,787 (GRCm39)	M235I	probably benign	Het
Dnajc21	A	T	15: 10,462,363 (GRCm39)	D87E	possibly damaging	Het
Ell	A	C	8: 70,992,357 (GRCm39)	M1L	possibly damaging	Het
Esyt3	T	C	9: 99,240,466 (GRCm39)		probably benign	Het
Ets1	T	C	9: 32,640,094 (GRCm39)		probably benign	Het
Fam222b	T	A	11: 78,045,858 (GRCm39)	M473K	probably benign	Het
Fanca	T	C	8: 124,030,702 (GRCm39)		probably benign	Het
Fbrsl1	G	T	5: 110,529,484 (GRCm39)	A67D	probably damaging	Het
Fchsd1	G	A	18: 38,094,380 (GRCm39)	P622L	probably damaging	Het
Gal3st2c	T	G	1: 93,936,023 (GRCm39)		probably null	Het
Gins2	T	G	8: 121,308,486 (GRCm39)	H166P	possibly damaging	Het
Gm10118	A	T	10: 63,762,845 (GRCm39)		probably benign	Het
Gm9979	A	T	13: 40,859,289 (GRCm39)		noncoding transcript	Het
Hspbap1	A	G	16: 35,622,033 (GRCm39)	Y126C	probably damaging	Het
Hspd1	A	T	1: 55,123,928 (GRCm39)	I64N	probably damaging	Het
Igkv3-4	A	T	6: 70,649,267 (GRCm39)	S89C	probably damaging	Het
Il10ra	T	A	9: 45,176,924 (GRCm39)	K134*	probably null	Het
Il12rb1	G	A	8: 71,266,411 (GRCm39)	C252Y	possibly damaging	Het
Il24	A	T	1: 130,810,253 (GRCm39)	V201E	possibly damaging	Het
Inpp1	A	G	1: 52,833,820 (GRCm39)	I92T	probably damaging	Het
Kcnh5	T	C	12: 75,023,463 (GRCm39)	D535G	probably benign	Het
Kcnq4	T	A	4: 120,573,082 (GRCm39)	I240F	probably damaging	Het
Kctd17	G	A	15: 78,321,502 (GRCm39)		probably benign	Het
Leo1	T	A	9: 75,364,423 (GRCm39)	I521N	possibly damaging	Het
Mdga1	A	G	17: 30,058,841 (GRCm39)	L722P	probably damaging	Het
Met	G	T	6: 17,548,781 (GRCm39)	V942L	probably benign	Het
Mfn1	A	T	3: 32,617,996 (GRCm39)	T110S	probably benign	Het
Mrps15	T	C	4: 125,942,488 (GRCm39)	I79T	probably benign	Het
Mycbp2	A	C	14: 103,360,791 (GRCm39)	M4497R	probably damaging	Het
Mylk	T	A	16: 34,699,722 (GRCm39)	S362T	probably benign	Het
Mypn	A	G	10: 62,955,827 (GRCm39)	F1209L	probably benign	Het
Nab2	T	C	10: 127,500,526 (GRCm39)	S189G	probably damaging	Het
Naxe	A	C	3: 87,963,840 (GRCm39)		probably null	Het
Ncf1	A	G	5: 134,252,355 (GRCm39)	V232A	probably damaging	Het
Nell1	A	G	7: 49,929,359 (GRCm39)	Y422C	probably damaging	Het
Nmnat2	G	T	1: 152,969,807 (GRCm39)	G176V	probably damaging	Het
Npr1	A	G	3: 90,362,149 (GRCm39)	S999P	probably damaging	Het
Nuak1	T	C	10: 84,211,119 (GRCm39)	D323G	probably benign	Het
Or4d10b	A	G	19: 12,036,642 (GRCm39)	V158A	probably benign	Het
Or5h23	A	G	16: 58,906,360 (GRCm39)	F162S	probably benign	Het
Or8b3b	T	A	9: 38,584,261 (GRCm39)	T160S	probably damaging	Het
Osbpl8	T	C	10: 111,108,029 (GRCm39)	S342P	probably damaging	Het
Pag1	A	T	3: 9,764,482 (GRCm39)	Y224N	probably damaging	Het
Pald1	T	A	10: 61,179,489 (GRCm39)	H460L	probably damaging	Het
Per2	G	A	1: 91,355,578 (GRCm39)	Q727*	probably null	Het
Pex19	T	C	1: 171,960,779 (GRCm39)	V134A	probably benign	Het
Phlpp1	A	T	1: 106,320,657 (GRCm39)	I1551F	possibly damaging	Het
Ppef2	A	T	5: 92,386,998 (GRCm39)	V313D	probably damaging	Het
Prorp	T	C	12: 55,351,257 (GRCm39)	S189P	possibly damaging	Het
Pzp	A	C	6: 128,500,759 (GRCm39)	F153C	probably damaging	Het
Rasl11a	A	G	5: 146,782,052 (GRCm39)	H9R	probably benign	Het
Rfx3	A	T	19: 27,779,780 (GRCm39)		probably null	Het
Rmnd5b	A	T	11: 51,518,789 (GRCm39)	I68N	probably damaging	Het
Senp5	T	A	16: 31,808,331 (GRCm39)	S281C	probably damaging	Het
Sh3rf1	G	A	8: 61,814,766 (GRCm39)	E442K	probably benign	Het
Slc12a3	G	A	8: 95,072,416 (GRCm39)	V645M	probably damaging	Het
Slc22a16	T	C	10: 40,457,337 (GRCm39)	F193L	possibly damaging	Het
Slc35f1	A	T	10: 52,984,274 (GRCm39)	T345S	possibly damaging	Het
Slc9a1	G	A	4: 133,148,874 (GRCm39)	R704H	probably damaging	Het
Spta1	A	T	1: 174,003,336 (GRCm39)	Y89F	possibly damaging	Het
Sspo	A	G	6: 48,451,425 (GRCm39)	E2741G	probably damaging	Het
Strn4	G	A	7: 16,567,799 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,132 (GRCm39)	T1859A	probably damaging	Het
Tbc1d14	A	T	5: 36,682,389 (GRCm39)	Y3N	probably damaging	Het
Tdrd9	C	A	12: 112,018,414 (GRCm39)	R1278S	probably benign	Het
Tenm4	C	A	7: 96,446,608 (GRCm39)	A826E	possibly damaging	Het
Tenm4	G	T	7: 96,446,607 (GRCm39)	A826S	possibly damaging	Het
Tet2	C	T	3: 133,182,241 (GRCm39)		probably null	Het
Tfec	A	G	6: 16,834,199 (GRCm39)	L236P	probably benign	Het
Tjap1	A	G	17: 46,569,797 (GRCm39)	S388P	probably damaging	Het
Tle1	T	C	4: 72,043,208 (GRCm39)	T554A	possibly damaging	Het
Tmem17	G	A	11: 22,467,450 (GRCm39)	V83I	probably benign	Het
Tnrc6b	C	T	15: 80,760,703 (GRCm39)	H137Y	probably damaging	Het
Tomm5	T	C	4: 45,106,679 (GRCm39)		probably benign	Het
Top3b	T	A	16: 16,709,441 (GRCm39)		probably benign	Het
Tph1	T	C	7: 46,303,216 (GRCm39)	H254R	probably damaging	Het
Tpte	T	C	8: 22,841,468 (GRCm39)	Y487H	probably damaging	Het
Trappc13	T	A	13: 104,284,749 (GRCm39)	D241V	probably damaging	Het
Trrap	A	G	5: 144,719,075 (GRCm39)	I193V	probably benign	Het
Tspear	A	T	10: 77,706,199 (GRCm39)	H323L	probably benign	Het
Ttc39a	A	T	4: 109,290,184 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubg1	A	G	11: 101,014,858 (GRCm39)	D200G	probably damaging	Het
Uso1	A	G	5: 92,328,467 (GRCm39)	N355D	probably benign	Het
Vamp4	T	C	1: 162,420,248 (GRCm39)		probably null	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vps52	A	G	17: 34,180,195 (GRCm39)	T300A	probably benign	Het
Wt1	A	T	2: 104,957,629 (GRCm39)	H163L	probably damaging	Het
Xirp2	T	C	2: 67,344,379 (GRCm39)	S2207P	probably benign	Het
Xpo6	A	T	7: 125,706,250 (GRCm39)	I30N	probably damaging	Het
Zfp386	T	A	12: 116,023,347 (GRCm39)	I320K	probably benign	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
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
R7692:Ugdh	UTSW	5	65,574,958 (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'- AATTCTTTGGTCCATCCCGATG -3'
(R):5'- GTGTCGGACTCAAAACCCAG -3'

Sequencing Primer
(F):5'- ATCCCGATGGCCGTTGC -3'
(R):5'- TCCTGCCTGTGGGAATCAC -3'

Posted On

2016-10-26