Mutagenetix > Incidental Mutation

Incidental Mutation 'R7235:Uxs1'

562736

Institutional Source

Beutler Lab

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

MMRRC Submission

045305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43786126-43866960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43804087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 276 (N276S)

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: N276S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: N276S

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

Meta Mutation Damage Score

0.2446

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,852 (GRCm39)	M3712K	unknown	Het
Bri3bp	A	G	5: 125,518,748 (GRCm39)	E8G	unknown	Het
Brip1	C	T	11: 86,029,701 (GRCm39)	R611Q	possibly damaging	Het
Carm1	T	G	9: 21,498,701 (GRCm39)		probably benign	Het
Catsper4	A	T	4: 133,939,892 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cip2a	T	A	16: 48,821,422 (GRCm39)	L176H	probably damaging	Het
Clk4	A	G	11: 51,167,012 (GRCm39)	D330G	probably damaging	Het
Dcdc2c	A	G	12: 28,520,718 (GRCm39)	S453P		Het
Ddx46	G	A	13: 55,811,053 (GRCm39)	V550I	probably benign	Het
Dennd1a	T	C	2: 37,691,073 (GRCm39)	N676D	probably benign	Het
Dnah3	T	C	7: 119,631,893 (GRCm39)	N1365S	probably damaging	Het
Dsg1b	T	C	18: 20,532,480 (GRCm39)	V508A	probably benign	Het
Dus2	T	C	8: 106,742,587 (GRCm39)	V39A	possibly damaging	Het
Dync1li1	T	C	9: 114,544,231 (GRCm39)	V301A	possibly damaging	Het
Efcc1	T	G	6: 87,730,780 (GRCm39)	S513A	probably benign	Het
Eif3f	T	C	7: 108,537,295 (GRCm39)	V167A	possibly damaging	Het
Ephb2	A	G	4: 136,421,139 (GRCm39)	Y404H	probably damaging	Het
Eqtn	A	T	4: 94,811,936 (GRCm39)	D152E	probably damaging	Het
Ercc5	A	C	1: 44,217,363 (GRCm39)	K902T	possibly damaging	Het
Erlec1	T	A	11: 30,900,751 (GRCm39)	E139V	possibly damaging	Het
Evl	G	A	12: 108,614,719 (GRCm39)	G38R	probably damaging	Het
Fads2b	T	G	2: 85,330,563 (GRCm39)	H248P	probably damaging	Het
Foxd2	T	C	4: 114,765,468 (GRCm39)	N184S	unknown	Het
Frem3	T	C	8: 81,417,354 (GRCm39)	Y2020H	probably benign	Het
Ganc	T	C	2: 120,264,198 (GRCm39)	F384L	probably damaging	Het
Grin2a	A	G	16: 9,397,129 (GRCm39)	L986P	probably damaging	Het
Ift140	A	T	17: 25,239,619 (GRCm39)	D92V	possibly damaging	Het
Inpp5b	A	G	4: 124,645,185 (GRCm39)	K158E	probably benign	Het
Iscu	T	A	5: 113,914,943 (GRCm39)	S152T	probably benign	Het
Isl2	C	T	9: 55,451,455 (GRCm39)	T115I	probably benign	Het
Kalrn	T	A	16: 33,996,131 (GRCm39)	T1542S	probably benign	Het
Kat6a	A	G	8: 23,404,285 (GRCm39)	D454G	possibly damaging	Het
Kcnj10	T	C	1: 172,196,993 (GRCm39)	I169T	probably damaging	Het
Klk12	T	C	7: 43,422,723 (GRCm39)	S217P	probably damaging	Het
Lancl1	T	C	1: 67,077,694 (GRCm39)	N14S	probably benign	Het
Map2	A	G	1: 66,453,807 (GRCm39)	Y899C	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Nr1h5	C	T	3: 102,856,358 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,774,491 (GRCm39)	T1515A	probably damaging	Het
Obscn	A	C	11: 58,971,666 (GRCm39)	V2183G	probably damaging	Het
Or52n2	C	T	7: 104,541,926 (GRCm39)	R303Q	probably benign	Het
Osbpl8	A	G	10: 111,105,288 (GRCm39)	T248A	probably benign	Het
Pias3	T	A	3: 96,611,679 (GRCm39)	S533T	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,317,573 (GRCm39)	Y680H	probably damaging	Het
Pnliprp2	A	G	19: 58,763,659 (GRCm39)	N436S	probably benign	Het
Pold1	T	A	7: 44,191,244 (GRCm39)	M196L	probably benign	Het
Prkdc	G	A	16: 15,532,127 (GRCm39)	V1464I	probably benign	Het
Ptk2b	G	A	14: 66,394,536 (GRCm39)	Q857*	probably null	Het
Qars1	T	A	9: 108,387,331 (GRCm39)	L185Q	probably damaging	Het
Rabep1	A	G	11: 70,831,290 (GRCm39)	N859S	probably benign	Het
Rnf19b	A	G	4: 128,977,571 (GRCm39)	H156R		Het
Sart3	T	C	5: 113,891,703 (GRCm39)	Q423R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc6a21	C	T	7: 44,930,182 (GRCm39)	H194Y	probably damaging	Het
Tcf4	G	A	18: 69,790,866 (GRCm39)	V420I	probably damaging	Het
Tjp1	T	C	7: 64,968,321 (GRCm39)	D701G	probably benign	Het
Trim42	T	C	9: 97,251,761 (GRCm39)	D46G	probably damaging	Het
Usp19	C	T	9: 108,372,123 (GRCm39)	R429*	probably null	Het
Vps50	A	G	6: 3,588,078 (GRCm39)	I684V	probably benign	Het
Yars2	T	A	16: 16,122,556 (GRCm39)	D307E	probably benign	Het
Zfp934	A	T	13: 62,665,964 (GRCm39)	C258S		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
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'- CCCAAGGTTCACTGTAAGGC -3'
(R):5'- AAAGAATCCTGGTCTCCATCC -3'

Sequencing Primer
(F):5'- AAGGTTCACTGTAAGGCTATTCCCG -3'
(R):5'- GGTCTCCATCCTTGCAGG -3'

Posted On

2019-06-26