Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Uxs1'

635049

Institutional Source

Beutler Lab

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43786126-43866960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43810911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 225 (I225K)

Ref Sequence

ENSEMBL: ENSMUSP00000119939 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000126008
AA Change: I225K

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: I225K

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
AA Change: I230K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: I230K

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: I104K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
AA Change: I104K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Cpne6	T	C	14: 55,749,485 (GRCm39)	M15T	probably benign	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	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
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
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'- CACTAGGTCTTCCCAACAGC -3'
(R):5'- TGTCATGAAGGTGAATTATGACCATCG -3'

Sequencing Primer
(F):5'- TAGGTCTTCCCAACAGCCACTG -3'
(R):5'- GGTTCAGACCTCAGCTTGACTG -3'

Posted On

2020-07-13