Mutagenetix > Incidental Mutation

Incidental Mutation 'R2079:Uxs1'

229310

Institutional Source

Beutler Lab

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

MMRRC Submission

040084-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43786126-43866960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43804133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 261 (T261A)

Ref Sequence

ENSEMBL: ENSMUSP00000119939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076997] [ENSMUST00000126008] [ENSMUST00000139451]

AlphaFold

Q91XL3

Predicted Effect

probably benign
Transcript: ENSMUST00000076997

SMART Domains

Protein: ENSMUSP00000076259
Gene: ENSMUSG00000057363

Domain	Start	End	E-Value	Type
Pfam:UXS1_N	1	78	5.2e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126008
AA Change: T261A

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

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: T261A

Domain	Start	End	E-Value	Type
Pfam:UXS1_N	4	78	2.3e-40	PFAM
Pfam:RmlD_sub_bind	89	370	1.1e-11	PFAM
Pfam:Polysacc_synt_2	91	207	2.7e-6	PFAM
Pfam:Epimerase	91	324	9.8e-52	PFAM
Pfam:3Beta_HSD	92	305	1.8e-9	PFAM
Pfam:GDP_Man_Dehyd	92	387	1.3e-58	PFAM
Pfam:NAD_binding_4	129	297	4.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139451

SMART Domains

Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363

Domain	Start	End	E-Value	Type
Pfam:UXS1_N	1	83	4.4e-38	PFAM
Pfam:RmlD_sub_bind	94	254	2.6e-9	PFAM
Pfam:Polysacc_synt_2	96	211	1.2e-6	PFAM
Pfam:Epimerase	96	254	2.9e-27	PFAM
Pfam:3Beta_HSD	97	251	2.5e-9	PFAM
Pfam:NAD_binding_4	125	254	1.1e-6	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme found in the perinuclear Golgi which catalyzes the synthesis of UDP-xylose used in glycosaminoglycan (GAG) synthesis on proteoglycans. The GAG chains are covalently attached to proteoglycans which participate in signaling pathways during development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele die prenatally. Heterozygous mice exhibit an increased mean serum IgG2a response to ovalbumin challenge when compared with that of controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,598,746 (GRCm39)	R862S	probably benign	Het
Aldoa	T	C	7: 126,396,076 (GRCm39)	D164G	probably null	Het
Ankle2	T	C	5: 110,392,371 (GRCm39)	V459A	probably damaging	Het
Atp11a	A	G	8: 12,907,902 (GRCm39)	Y482C	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Cfap65	G	A	1: 74,956,358 (GRCm39)	R1074C	probably benign	Het
Ciart	G	T	3: 95,786,350 (GRCm39)	H242N	probably damaging	Het
Cidec	T	A	6: 113,402,615 (GRCm39)	M220L	probably benign	Het
Clca3a1	A	G	3: 144,713,534 (GRCm39)	I699T	possibly damaging	Het
Csf2rb2	T	C	15: 78,172,207 (GRCm39)	D401G	probably benign	Het
Cyp2j6	C	A	4: 96,419,962 (GRCm39)	L256F	possibly damaging	Het
Ddr2	A	T	1: 169,832,345 (GRCm39)	Y148*	probably null	Het
Depdc5	T	A	5: 33,104,018 (GRCm39)	I373N	possibly damaging	Het
Dpp10	A	T	1: 123,360,721 (GRCm39)	M268K	probably damaging	Het
Fam118b	C	A	9: 35,134,960 (GRCm39)	V216F	possibly damaging	Het
Fancd2	T	C	6: 113,532,148 (GRCm39)	V487A	probably damaging	Het
Fhad1	T	A	4: 141,718,513 (GRCm39)	R147*	probably null	Het
Flt3	A	G	5: 147,291,893 (GRCm39)	S544P	probably damaging	Het
Frem3	C	A	8: 81,341,732 (GRCm39)	Q1342K	probably benign	Het
Garin3	T	G	11: 46,295,934 (GRCm39)	V102G	probably benign	Het
Gimap4	T	C	6: 48,667,881 (GRCm39)	M84T	possibly damaging	Het
Gm20481	T	C	17: 35,189,196 (GRCm39)	K569R	probably benign	Het
Gm4871	A	C	5: 144,966,741 (GRCm39)	D247E	possibly damaging	Het
Gm5141	A	T	13: 62,922,424 (GRCm39)	N248K	probably benign	Het
Gulo	A	G	14: 66,227,832 (GRCm39)	Y367H	probably damaging	Het
Hap1	T	C	11: 100,244,572 (GRCm39)	E120G	probably damaging	Het
Heatr3	T	A	8: 88,868,404 (GRCm39)	N51K	probably damaging	Het
Hipk2	T	C	6: 38,795,720 (GRCm39)	D183G	probably damaging	Het
Hnrnpll	T	A	17: 80,342,806 (GRCm39)	T439S	probably benign	Het
Hoxd3	A	C	2: 74,574,610 (GRCm39)	E85D	probably damaging	Het
Ipo8	A	T	6: 148,690,660 (GRCm39)	M694K	probably damaging	Het
Jag2	A	G	12: 112,883,997 (GRCm39)	I194T	probably damaging	Het
Jrkl	A	T	9: 13,244,864 (GRCm39)	F266I	probably damaging	Het
Kcnt1	A	G	2: 25,790,260 (GRCm39)	I436V	possibly damaging	Het
Kdm3b	A	T	18: 34,936,570 (GRCm39)	D284V	probably damaging	Het
Khdrbs2	A	G	1: 32,506,955 (GRCm39)	T200A	probably benign	Het
Kmt2c	T	C	5: 25,557,278 (GRCm39)	D1143G	possibly damaging	Het
Kremen1	G	GGGGT	11: 5,151,794 (GRCm39)		probably null	Het
Lama2	A	C	10: 27,245,049 (GRCm39)	I244S	probably damaging	Het
Lama5	G	A	2: 179,867,301 (GRCm39)	P99S	possibly damaging	Het
Lrrc30	A	T	17: 67,938,875 (GRCm39)	L235Q	possibly damaging	Het
Man2b2	C	T	5: 36,971,716 (GRCm39)	V667M	possibly damaging	Het
Mmp2	T	A	8: 93,576,817 (GRCm39)	N77K	probably damaging	Het
Myo1a	A	G	10: 127,556,482 (GRCm39)	E1009G	probably benign	Het
Ndst1	A	G	18: 60,828,581 (GRCm39)	Y658H	probably damaging	Het
Nlrp10	A	G	7: 108,524,835 (GRCm39)	L215P	possibly damaging	Het
Nrbp1	T	C	5: 31,408,417 (GRCm39)	F526L	probably benign	Het
Or10p21	T	C	10: 128,847,898 (GRCm39)	V248A	probably damaging	Het
Or51t4	T	A	7: 102,598,702 (GRCm39)	F333L	probably benign	Het
Padi2	T	C	4: 140,660,507 (GRCm39)	L329P	probably damaging	Het
Pcdhb20	A	G	18: 37,638,224 (GRCm39)	Q250R	probably benign	Het
Pcdhb3	T	A	18: 37,436,362 (GRCm39)	L776Q	possibly damaging	Het
Pik3cb	A	T	9: 98,942,257 (GRCm39)	M700K	probably benign	Het
Pla2g6	C	T	15: 79,197,194 (GRCm39)	V127M	probably damaging	Het
Rabgef1	T	C	5: 130,219,776 (GRCm39)	S80P	probably damaging	Het
Sema3a	C	T	5: 13,501,098 (GRCm39)	T47I	possibly damaging	Het
Sik2	C	T	9: 50,818,706 (GRCm39)		probably null	Het
Sin3a	T	C	9: 56,996,807 (GRCm39)	V112A	probably benign	Het
Slc26a6	G	A	9: 108,736,257 (GRCm39)	A472T	probably damaging	Het
Syne1	A	G	10: 5,311,502 (GRCm39)	V561A	probably benign	Het
Syt16	C	T	12: 74,285,073 (GRCm39)	T422I	probably damaging	Het
Tlr11	A	T	14: 50,598,437 (GRCm39)	H141L	probably damaging	Het
Tmem252	A	T	19: 24,655,017 (GRCm39)	E131D	probably benign	Het
Trim55	T	G	3: 19,698,830 (GRCm39)	L20V	probably damaging	Het
Uqcrfs1	A	T	13: 30,725,291 (GRCm39)	V83D	probably benign	Het
Utf1	C	T	7: 139,524,808 (GRCm39)	R309*	probably null	Het
Vmn1r24	T	C	6: 57,932,655 (GRCm39)	I288V	probably benign	Het
Vmn1r80	A	T	7: 11,927,121 (GRCm39)	D77V	probably damaging	Het
Vmn2r74	T	G	7: 85,606,383 (GRCm39)	H321P	probably benign	Het
Zfp638	T	C	6: 83,930,371 (GRCm39)		probably null	Het
Zwilch	T	A	9: 64,060,856 (GRCm39)	Q332L	probably damaging	Het
Zwilch	G	T	9: 64,060,857 (GRCm39)	Q332K	probably damaging	Het

Other mutations in Uxs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Uxs1	APN	1	43,796,173 (GRCm39)	missense	probably benign	0.03
IGL02210:Uxs1	APN	1	43,789,446 (GRCm39)	missense	possibly damaging	0.95
IGL03203:Uxs1	APN	1	43,846,504 (GRCm39)	intron	probably benign
excess	UTSW	1	43,804,087 (GRCm39)	missense	probably damaging	0.96
R0505:Uxs1	UTSW	1	43,804,046 (GRCm39)	splice site	probably null
R1464:Uxs1	UTSW	1	43,804,076 (GRCm39)	nonsense	probably null
R1464:Uxs1	UTSW	1	43,804,076 (GRCm39)	nonsense	probably null
R1720:Uxs1	UTSW	1	43,804,081 (GRCm39)	missense	probably damaging	1.00
R2113:Uxs1	UTSW	1	43,810,933 (GRCm39)	missense	probably damaging	1.00
R2124:Uxs1	UTSW	1	43,814,006 (GRCm39)	missense	probably damaging	1.00
R2145:Uxs1	UTSW	1	43,866,783 (GRCm39)	missense	probably damaging	1.00
R4025:Uxs1	UTSW	1	43,841,776 (GRCm39)	intron	probably benign
R4210:Uxs1	UTSW	1	43,789,398 (GRCm39)	missense	possibly damaging	0.95
R4722:Uxs1	UTSW	1	43,814,006 (GRCm39)	missense	probably damaging	1.00
R5321:Uxs1	UTSW	1	43,844,805 (GRCm39)	missense	probably damaging	0.96
R5527:Uxs1	UTSW	1	43,819,240 (GRCm39)	missense	probably damaging	1.00
R5854:Uxs1	UTSW	1	43,819,233 (GRCm39)	missense	probably damaging	1.00
R6353:Uxs1	UTSW	1	43,836,410 (GRCm39)	missense	probably damaging	0.99
R7205:Uxs1	UTSW	1	43,856,118 (GRCm39)	intron	probably benign
R7235:Uxs1	UTSW	1	43,804,087 (GRCm39)	missense	probably damaging	0.96
R7474:Uxs1	UTSW	1	43,796,184 (GRCm39)	missense	possibly damaging	0.95
R8190:Uxs1	UTSW	1	43,810,911 (GRCm39)	missense	possibly damaging	0.92
R9248:Uxs1	UTSW	1	43,804,084 (GRCm39)	missense	probably damaging	1.00
R9549:Uxs1	UTSW	1	43,810,892 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTGGGAAACATCAAGGC -3'
(R):5'- AATCTGAGGCAGCTTTGGC -3'

Sequencing Primer
(F):5'- GCCCTGAAGCAAGTCACCTTTTG -3'
(R):5'- ATGTAGCTCTGCATCACCAAGTTG -3'

Posted On

2014-09-17