Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Ugdh'

489249

Institutional Source

Beutler Lab

Gene Symbol

Ugdh

Ensembl Gene

ENSMUSG00000029201

Gene Name

UDP-glucose dehydrogenase

Synonyms

Udpgdh

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65413221-65435949 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65417581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 367 (Y367*)

Ref Sequence

ENSEMBL: ENSMUSP00000031103 (fasta)

Gene Model

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

AlphaFold

O70475

Predicted Effect

probably null
Transcript: ENSMUST00000031103
AA Change: Y367*

SMART Domains

Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
AA Change: Y367*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,171,486 (GRCm38)		probably null	Het
4930550C14Rik	G	T	9: 53,414,383 (GRCm38)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm38)	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687 (GRCm38)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792 (GRCm38)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252 (GRCm38)	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412 (GRCm38)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942 (GRCm38)	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976 (GRCm38)	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467 (GRCm38)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961 (GRCm38)	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595 (GRCm38)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105 (GRCm38)	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054 (GRCm38)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753 (GRCm38)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660 (GRCm38)	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982 (GRCm38)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353 (GRCm38)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281 (GRCm38)	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418 (GRCm38)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480 (GRCm38)		probably null	Het
Eprs1	G	T	1: 185,407,754 (GRCm38)		probably null	Het
Etl4	T	A	2: 20,713,360 (GRCm38)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745 (GRCm38)	S89*	probably null	Het
F5	A	T	1: 164,181,635 (GRCm38)	I325F	probably damaging	Het
F5	G	A	1: 164,190,187 (GRCm38)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,559,133 (GRCm38)	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277 (GRCm38)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630 (GRCm38)	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396 (GRCm38)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930 (GRCm38)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271 (GRCm38)	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088 (GRCm38)		probably benign	Het
Gdpd3	A	G	7: 126,775,502 (GRCm38)	S290G	probably benign	Het
Gmip	T	A	8: 69,817,085 (GRCm38)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025 (GRCm38)	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556 (GRCm38)	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757 (GRCm38)	L2Q	probably damaging	Het
Hspbap1	T	C	16: 35,817,222 (GRCm38)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289 (GRCm38)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668 (GRCm38)	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909 (GRCm38)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853 (GRCm38)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854 (GRCm38)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213 (GRCm38)	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489 (GRCm38)	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116 (GRCm38)	F3L	unknown	Het
Madd	A	C	2: 91,165,457 (GRCm38)	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823 (GRCm38)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm38)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020 (GRCm38)	Y569H	probably damaging	Het
Mknk2	T	C	10: 80,669,025 (GRCm38)		probably null	Het
Mpp3	C	A	11: 102,008,566 (GRCm38)	R376S	probably benign	Het
Ncoa4-ps	T	G	12: 119,261,106 (GRCm38)		noncoding transcript	Het
Nup160	T	A	2: 90,690,105 (GRCm38)	Y293*	probably null	Het
Nup58	A	T	14: 60,244,616 (GRCm38)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191 (GRCm38)	L255V	probably benign	Het
Or10ab4	A	G	7: 108,055,899 (GRCm38)	I306V	probably benign	Het
Or1e30	T	A	11: 73,787,695 (GRCm38)	Y252*	probably null	Het
Or2l5	A	T	16: 19,515,531 (GRCm38)	L35Q	probably damaging	Het
Or4d11	T	C	19: 12,036,736 (GRCm38)	E2G	probably benign	Het
Padi3	A	T	4: 140,796,394 (GRCm38)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618 (GRCm38)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551 (GRCm38)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606 (GRCm38)	H2089R	probably benign	Het
Plaat5	C	T	19: 7,619,291 (GRCm38)	P148S	probably damaging	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279 (GRCm38)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm38)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827 (GRCm38)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068 (GRCm38)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390 (GRCm38)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376 (GRCm38)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563 (GRCm38)	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321 (GRCm38)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207 (GRCm38)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047 (GRCm38)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 127,207,996 (GRCm38)	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783 (GRCm38)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573 (GRCm38)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851 (GRCm38)	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550 (GRCm38)	S433N	probably benign	Het
Traip	G	T	9: 107,970,619 (GRCm38)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm38)	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160 (GRCm38)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm38)	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960 (GRCm38)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm38)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914 (GRCm38)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435 (GRCm38)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670 (GRCm38)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959 (GRCm38)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465 (GRCm38)		probably null	Het
Vwf	A	G	6: 125,657,065 (GRCm38)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710 (GRCm38)		probably null	Het
Zfp458	T	A	13: 67,257,598 (GRCm38)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910 (GRCm38)	V1051A	probably benign	Het
Zfp998	A	T	13: 66,431,681 (GRCm38)	C248S	probably damaging	Het

Other mutations in Ugdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01630:Ugdh	APN	5	65,416,905 (GRCm38)	missense	probably benign	0.12
IGL01734:Ugdh	APN	5	65,422,688 (GRCm38)	missense	probably benign
IGL02157:Ugdh	APN	5	65,422,692 (GRCm38)	missense	probably damaging	0.99
R1677:Ugdh	UTSW	5	65,423,178 (GRCm38)	missense	probably damaging	1.00
R1836:Ugdh	UTSW	5	65,420,291 (GRCm38)	nonsense	probably null
R1882:Ugdh	UTSW	5	65,423,596 (GRCm38)	missense	possibly damaging	0.86
R2020:Ugdh	UTSW	5	65,416,925 (GRCm38)	missense	probably damaging	1.00
R2166:Ugdh	UTSW	5	65,417,014 (GRCm38)	splice site	probably benign
R2256:Ugdh	UTSW	5	65,417,115 (GRCm38)	splice site	probably benign
R2257:Ugdh	UTSW	5	65,417,115 (GRCm38)	splice site	probably benign
R2332:Ugdh	UTSW	5	65,427,484 (GRCm38)	missense	possibly damaging	0.63
R4707:Ugdh	UTSW	5	65,423,352 (GRCm38)	splice site	probably null
R4913:Ugdh	UTSW	5	65,423,448 (GRCm38)	critical splice donor site	probably null
R5590:Ugdh	UTSW	5	65,422,874 (GRCm38)	unclassified	probably benign
R5644:Ugdh	UTSW	5	65,416,861 (GRCm38)	missense	probably benign	0.04
R5741:Ugdh	UTSW	5	65,427,523 (GRCm38)	missense	probably damaging	0.99
R6525:Ugdh	UTSW	5	65,417,059 (GRCm38)	missense	probably damaging	1.00
R6897:Ugdh	UTSW	5	65,427,433 (GRCm38)	missense	probably benign	0.07
R7155:Ugdh	UTSW	5	65,417,037 (GRCm38)	missense	probably damaging	1.00
R7692:Ugdh	UTSW	5	65,417,615 (GRCm38)	missense	probably damaging	1.00
R8178:Ugdh	UTSW	5	65,423,662 (GRCm38)	splice site	probably null
R8485:Ugdh	UTSW	5	65,427,559 (GRCm38)	missense	possibly damaging	0.50
R9361:Ugdh	UTSW	5	65,418,543 (GRCm38)	missense	probably damaging	1.00
R9565:Ugdh	UTSW	5	65,418,533 (GRCm38)	missense	possibly damaging	0.91
R9678:Ugdh	UTSW	5	65,424,127 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTGGCTCCTGCAAAACCTAC -3'
(R):5'- AGCATCTGTATCCTCTCCAATTAAG -3'

Sequencing Primer
(F):5'- CAGATTAAAGCACAGCTGATGATGTC -3'
(R):5'- TATCCTCTCCAATTAAGCTTAACCAG -3'

Posted On

2017-10-10