Mutagenetix > Incidental Mutations

Incidental Mutation 'R2145:Uxs1'

314427

Institutional Source

Beutler Lab

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

MMRRC Submission

040148-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2145 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43746966-43827800 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43827623 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 29 (Y29C)

Ref Sequence

ENSEMBL: ENSMUSP00000144114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076997] [ENSMUST00000126008] [ENSMUST00000128261] [ENSMUST00000136704] [ENSMUST00000139451] [ENSMUST00000153317]

Predicted Effect

probably damaging
Transcript: ENSMUST00000076997
AA Change: Y29C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076259
Gene: ENSMUSG00000057363
AA Change: Y29C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126008
AA Change: Y29C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: Y29C

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 damaging
Transcript: ENSMUST00000128261
AA Change: Y29C

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

SMART Domains

Protein: ENSMUSP00000116719
Gene: ENSMUSG00000057363
AA Change: Y29C

Domain	Start	End	E-Value	Type
Pfam:UXS1_N	1	77	3.3e-38	PFAM
transmembrane domain	79	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136179

Predicted Effect

unknown
Transcript: ENSMUST00000136704
AA Change: Y29C

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139451
AA Change: Y29C

PolyPhen 2 Score 0.749 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: Y29C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000153317
AA Change: Y29C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
AA Change: Y29C

Domain	Start	End	E-Value	Type
Pfam:Epimerase	14	110	1.2e-13	PFAM
Pfam:GDP_Man_Dehyd	22	110	4.5e-18	PFAM

Meta Mutation Damage Score

0.1492

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (101/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,874	Y32C	probably damaging	Het
Abca15	A	G	7: 120,354,478	N535S	probably benign	Het
Abcc6	A	T	7: 45,998,741	L717Q	probably benign	Het
Abraxas2	C	A	7: 132,883,061	Q278K	probably benign	Het
Acap2	A	T	16: 31,105,524	D637E	probably benign	Het
AI661453	A	G	17: 47,466,098		probably benign	Het
Aoah	A	T	13: 20,840,096	E74V	probably damaging	Het
Appl1	A	G	14: 26,949,619	L292S	possibly damaging	Het
Astl	T	A	2: 127,347,189	V166E	probably damaging	Het
Atp5s	A	G	12: 69,741,054	Q88R	probably damaging	Het
Bbs1	T	G	19: 4,903,707	K143Q	possibly damaging	Het
Bbx	T	C	16: 50,274,544		probably benign	Het
Birc6	A	T	17: 74,660,413	Q4103L	possibly damaging	Het
C1qtnf2	T	G	11: 43,490,984	F178V	probably damaging	Het
Camta2	A	G	11: 70,671,575	F999L	probably benign	Het
Clcn7	A	G	17: 25,144,451	I34V	probably benign	Het
Cntn5	G	T	9: 9,748,415	P487Q	probably damaging	Het
Ctu2	T	A	8: 122,479,152	I213K	probably benign	Het
Des	C	A	1: 75,363,464		probably benign	Het
Dgcr8	A	T	16: 18,280,230	D432E	probably benign	Het
Dlgap5	G	A	14: 47,395,923	R549*	probably null	Het
Dmxl2	T	C	9: 54,415,910	T1397A	probably damaging	Het
Dnmt1	T	A	9: 20,937,155		probably benign	Het
Doxl2	A	T	6: 48,976,695	D518V	probably damaging	Het
Dstyk	T	A	1: 132,463,375	M838K	probably damaging	Het
Dtwd1	C	A	2: 126,159,984	T208N	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Dync1i2	T	A	2: 71,214,563		probably benign	Het
Fer1l6	T	A	15: 58,627,534	M1251K	probably benign	Het
Fmod	T	C	1: 134,040,518	Y99H	probably benign	Het
Fn1	A	T	1: 71,606,004	V1552D	probably damaging	Het
Fnip2	A	T	3: 79,500,432	S281T	probably damaging	Het
Glb1	A	G	9: 114,464,165	H536R	probably benign	Het
Glis2	T	A	16: 4,613,642	S344R	possibly damaging	Het
Gm1966	T	A	7: 106,603,008	H343L	possibly damaging	Het
Gm4847	A	T	1: 166,634,903	S339R	probably benign	Het
Gpr155	A	G	2: 73,356,658	S44P	probably benign	Het
Gprin1	G	A	13: 54,738,632	P610S	probably damaging	Het
H2-Ob	A	T	17: 34,242,580	M98L	probably benign	Het
Hist1h3e	T	C	13: 23,562,356	T4A	probably benign	Het
Hmcn2	T	C	2: 31,333,931		probably benign	Het
Ikbke	C	A	1: 131,273,474	V176L	probably damaging	Het
Il13	T	C	11: 53,632,524	T85A	possibly damaging	Het
Inpp5k	A	T	11: 75,647,191		probably null	Het
Irgm2	T	C	11: 58,220,529	S361P	possibly damaging	Het
Itga11	C	T	9: 62,732,204		probably benign	Het
Kalrn	G	T	16: 34,009,262		probably benign	Het
Kcng1	C	A	2: 168,269,032	G71C	probably damaging	Het
Kcnq5	T	A	1: 21,505,349	D291V	probably damaging	Het
Klhl7	A	T	5: 24,100,863	M37L	probably benign	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lhx6	C	T	2: 36,087,466	V325I	probably benign	Het
Lipc	A	G	9: 70,934,535	I9T	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mast1	C	A	8: 84,921,478	G458V	probably damaging	Het
Mga	T	C	2: 119,964,157	V2565A	possibly damaging	Het
Mkl2	T	C	16: 13,412,586	I1045T	probably damaging	Het
Mpzl2	C	G	9: 45,044,173	D127E	probably benign	Het
Myh3	T	A	11: 67,091,056	C793S	probably benign	Het
Nomo1	T	C	7: 46,066,504	L765P	probably damaging	Het
Nup210	A	G	6: 91,028,876	I1335T	possibly damaging	Het
Olfr549	T	C	7: 102,555,060		probably null	Het
Oxr1	T	A	15: 41,819,944	S254R	probably damaging	Het
Pan3	A	G	5: 147,530,098	I592V	possibly damaging	Het
Pask	C	T	1: 93,321,297	A794T	probably benign	Het
Pex2	T	C	3: 5,561,590	E53G	probably damaging	Het
Pfkfb2	T	C	1: 130,698,723	T438A	probably benign	Het
Phactr4	T	C	4: 132,370,784	E391G	probably damaging	Het
Pira2	A	T	7: 3,844,345	L115Q	probably damaging	Het
Pkhd1l1	A	T	15: 44,512,877		probably null	Het
Pnlip	A	G	19: 58,676,444	S235G	probably benign	Het
Prkd1	A	G	12: 50,489,911	V130A	possibly damaging	Het
Ptpn13	A	G	5: 103,556,133	T1344A	probably benign	Het
Ptprc	T	C	1: 138,073,681	Y780C	probably damaging	Het
Pxn	T	A	5: 115,552,756		probably benign	Het
Rap1gap2	G	A	11: 74,425,976	T245M	probably damaging	Het
Rc3h1	G	T	1: 160,930,257	K48N	probably damaging	Het
Rfwd3	T	C	8: 111,282,613	I444V	probably benign	Het
Rictor	C	T	15: 6,765,107	R293C	probably damaging	Het
Rif1	T	A	2: 52,111,400	I1622N	possibly damaging	Het
Rnf213	T	C	11: 119,415,193	V609A	probably benign	Het
Scgb1b2	G	T	7: 31,291,763		probably benign	Het
Serac1	A	T	17: 6,050,785	I448N	probably damaging	Het
Sh3kbp1	C	A	X: 159,824,496	T200K	probably benign	Het
Sned1	T	A	1: 93,271,684	F495L	probably damaging	Het
Socs7	T	C	11: 97,373,124	F281L	probably benign	Het
Spta1	C	T	1: 174,212,614	L1214F	probably benign	Het
Ssu72	A	G	4: 155,705,443	E21G	probably damaging	Het
Syngr4	A	G	7: 45,887,040	V186A	probably benign	Het
Tarsl2	G	A	7: 65,655,791	M254I	possibly damaging	Het
Tmem130	C	A	5: 144,743,785	V270L	probably benign	Het
Trim66	A	T	7: 109,475,113	I647N	probably damaging	Het
Tspyl2	A	T	X: 152,338,894	D572E	probably benign	Het
Unc45b	G	A	11: 82,917,754	R222H	probably benign	Het
Virma	T	A	4: 11,548,726		probably benign	Het
Vmn1r202	C	T	13: 22,501,783	G155S	possibly damaging	Het
Vmn2r24	T	A	6: 123,779,013	F15I	probably benign	Het
Wdr64	A	G	1: 175,767,095	T471A	probably benign	Het
Zfa-ps	T	A	10: 52,543,277		noncoding transcript	Het
Zfp260	A	G	7: 30,105,340	K222E	probably damaging	Het
Zfp300	A	G	X: 21,081,951	S525P	possibly damaging	Het
Zfp821	A	G	8: 109,724,347	D324G	probably damaging	Het
Zfp934	T	C	13: 62,517,834	D331G	probably damaging	Het
Zscan29	T	C	2: 121,170,106	R7G	probably damaging	Het

Other mutations in Uxs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Uxs1	APN	1	43757013	missense	probably benign	0.03
IGL02210:Uxs1	APN	1	43750286	missense	possibly damaging	0.95
IGL03203:Uxs1	APN	1	43807344	intron	probably benign
R0505:Uxs1	UTSW	1	43764886	splice site	probably null
R1464:Uxs1	UTSW	1	43764916	nonsense	probably null
R1464:Uxs1	UTSW	1	43764916	nonsense	probably null
R1720:Uxs1	UTSW	1	43764921	missense	probably damaging	1.00
R2079:Uxs1	UTSW	1	43764973	missense	probably damaging	1.00
R2113:Uxs1	UTSW	1	43771773	missense	probably damaging	1.00
R2124:Uxs1	UTSW	1	43774846	missense	probably damaging	1.00
R4025:Uxs1	UTSW	1	43802616	intron	probably benign
R4210:Uxs1	UTSW	1	43750238	missense	possibly damaging	0.95
R4722:Uxs1	UTSW	1	43774846	missense	probably damaging	1.00
R5321:Uxs1	UTSW	1	43805645	missense	probably damaging	0.96
R5527:Uxs1	UTSW	1	43780080	missense	probably damaging	1.00
R5854:Uxs1	UTSW	1	43780073	missense	probably damaging	1.00
R6353:Uxs1	UTSW	1	43797250	missense	probably damaging	0.99
R7205:Uxs1	UTSW	1	43816958	intron	probably benign
R7235:Uxs1	UTSW	1	43764927	missense	probably damaging	0.96
R7474:Uxs1	UTSW	1	43757024	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTATCCTACTTAACCAGCACCG -3'
(R):5'- AGGGATTACACTGCGCTTGC -3'

Sequencing Primer
(F):5'- AGTGTCTACAGCTCGGGGAAC -3'
(R):5'- AGCGCAGTGGTTTAGCC -3'

Posted On

2015-05-06