Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00743:Uxs1'

14763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

43786126-43866960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43796173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 310 (V310I)

Ref Sequence

ENSEMBL: ENSMUSP00000119939 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000126008
AA Change: V310I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: V310I

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

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,461,606 (GRCm39)	E659G	probably benign	Het
Adgrg6	A	C	10: 14,411,703 (GRCm39)		probably benign	Het
Als2cl	A	G	9: 110,718,227 (GRCm39)	K323E	possibly damaging	Het
Atm	A	C	9: 53,424,416 (GRCm39)	S628R	probably benign	Het
Baz2a	T	C	10: 127,950,395 (GRCm39)	V443A	probably benign	Het
Bclaf3	T	A	X: 158,341,357 (GRCm39)	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196 (GRCm39)	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,278,501 (GRCm39)		probably benign	Het
Cdh20	A	G	1: 104,875,153 (GRCm39)	T312A	probably benign	Het
Chrnd	G	A	1: 87,120,649 (GRCm39)	W91*	probably null	Het
Cntln	T	C	4: 84,897,652 (GRCm39)	F413S	probably benign	Het
Ctsq	A	T	13: 61,183,998 (GRCm39)	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,501,736 (GRCm39)	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,039,979 (GRCm39)	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Hps6	A	T	19: 45,992,099 (GRCm39)	D12V	probably damaging	Het
Hpse	T	C	5: 100,846,865 (GRCm39)	D188G	probably benign	Het
Id2	C	A	12: 25,145,355 (GRCm39)	E123*	probably null	Het
Ints10	C	T	8: 69,271,985 (GRCm39)	P562L	probably damaging	Het
Kctd10	G	A	5: 114,505,410 (GRCm39)	R195C	probably damaging	Het
Kel	A	C	6: 41,665,509 (GRCm39)	L537R	probably damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Lrrtm3	A	T	10: 63,924,988 (GRCm39)	S60T	probably damaging	Het
Myof	C	A	19: 37,949,382 (GRCm39)	R608L	probably benign	Het
Naa35	A	T	13: 59,778,485 (GRCm39)	I669F	probably benign	Het
Or8g2b	A	T	9: 39,751,002 (GRCm39)	I91F	probably benign	Het
Or8g53	A	G	9: 39,683,407 (GRCm39)	S230P	possibly damaging	Het
Pclo	G	T	5: 14,728,035 (GRCm39)		probably benign	Het
Pik3c3	C	T	18: 30,407,417 (GRCm39)	S55F	probably damaging	Het
Prdm6	T	G	18: 53,673,300 (GRCm39)	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,346,610 (GRCm39)	T63A	probably benign	Het
Samd4b	A	C	7: 28,101,302 (GRCm39)	I108S	probably damaging	Het
Slc9a7	T	C	X: 19,972,260 (GRCm39)	D708G	possibly damaging	Het
Stim2	A	G	5: 54,210,835 (GRCm39)	D90G	probably benign	Het
Tmem52b	A	G	6: 129,493,678 (GRCm39)	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,652,518 (GRCm39)	R98G	probably benign	Het
Vcan	A	C	13: 89,873,425 (GRCm39)	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,546,504 (GRCm39)	F792S	probably damaging	Het
Zfp455	T	C	13: 67,355,962 (GRCm39)	I345T	probably benign	Het
Zfp938	A	T	10: 82,062,317 (GRCm39)	M101K	probably benign	Het
Zkscan2	A	G	7: 123,079,195 (GRCm39)	S921P	probably damaging	Het

Other mutations in Uxs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2079:Uxs1	UTSW	1	43,804,133 (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

Posted On

2012-12-06