Mutagenetix > Incidental Mutation

Incidental Mutation 'R5527:Uxs1'

431894

Institutional Source

Beutler Lab

Gene Symbol

Uxs1

Ensembl Gene

ENSMUSG00000057363

Gene Name

UDP-glucuronate decarboxylase 1

Synonyms

1600025I13Rik

MMRRC Submission

043085-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5527 (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 43819240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 188 (T188A)

Ref Sequence

ENSEMBL: ENSMUSP00000118468 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000126008
AA Change: T183A

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

SMART Domains

Protein: ENSMUSP00000119939
Gene: ENSMUSG00000057363
AA Change: T183A

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

noncoding transcript
Transcript: ENSMUST00000134860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136179

Predicted Effect

probably benign
Transcript: ENSMUST00000136704

Predicted Effect

probably damaging
Transcript: ENSMUST00000139451
AA Change: T188A

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

SMART Domains

Protein: ENSMUSP00000118468
Gene: ENSMUSG00000057363
AA Change: T188A

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: T62A

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

SMART Domains

Protein: ENSMUSP00000144114
Gene: ENSMUSG00000057363
AA Change: T62A

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: 98.2%
3x: 97.2%
10x: 94.9%
20x: 89.7%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,278,842 (GRCm39)	Y1051N	probably benign	Het
Bach1	T	C	16: 87,516,433 (GRCm39)	S325P	probably benign	Het
Baz2a	T	C	10: 127,960,786 (GRCm39)	S1529P	probably damaging	Het
Bicd1	T	C	6: 149,396,134 (GRCm39)	L168P	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccnt2	T	C	1: 127,730,401 (GRCm39)	M426T	probably benign	Het
Cdk7	C	T	13: 100,866,980 (GRCm39)	V38I	probably damaging	Het
Cenpj	T	C	14: 56,764,440 (GRCm39)	Y1324C	probably damaging	Het
Cplane2	C	A	4: 140,947,303 (GRCm39)	A228D	probably damaging	Het
Ddx47	C	A	6: 134,988,657 (GRCm39)	A18E	probably benign	Het
Dnah2	G	A	11: 69,328,014 (GRCm39)	Q3370*	probably null	Het
Dnah6	C	T	6: 73,136,212 (GRCm39)	V976I	probably benign	Het
Dock7	C	T	4: 98,842,105 (GRCm39)		probably benign	Het
Dpy19l3	A	T	7: 35,413,555 (GRCm39)	I362N	possibly damaging	Het
Fam118a	A	T	15: 84,942,999 (GRCm39)	T343S	probably benign	Het
Fcgbp	T	A	7: 27,793,060 (GRCm39)	D1021E	probably benign	Het
Fkbp1b	T	C	12: 4,883,746 (GRCm39)	Y83C	probably damaging	Het
Flt4	T	C	11: 49,525,581 (GRCm39)	I709T	probably damaging	Het
Gga3	G	T	11: 115,478,262 (GRCm39)	A510D	probably damaging	Het
Heatr1	T	C	13: 12,417,641 (GRCm39)	I264T	probably damaging	Het
Heatr1	T	C	13: 12,419,829 (GRCm39)	I384T	probably benign	Het
Hes2	T	C	4: 152,244,849 (GRCm39)	V106A	probably benign	Het
Igf1r	T	A	7: 67,857,569 (GRCm39)	M1083K	probably damaging	Het
Il7r	A	T	15: 9,513,010 (GRCm39)	D166E	probably benign	Het
Ipo4	G	A	14: 55,869,507 (GRCm39)		probably null	Het
Klk1b26	T	C	7: 43,662,187 (GRCm39)	I15T	probably benign	Het
Krt42	T	C	11: 100,154,121 (GRCm39)		probably benign	Het
Lag3	T	C	6: 124,885,592 (GRCm39)	T263A	probably damaging	Het
Lilra6	T	A	7: 3,917,586 (GRCm39)		probably benign	Het
Lrrc31	T	A	3: 30,745,377 (GRCm39)	H90L	probably damaging	Het
Lvrn	G	A	18: 47,006,870 (GRCm39)	D331N	probably damaging	Het
Me2	A	T	18: 73,924,187 (GRCm39)	W342R	probably damaging	Het
Mob2	A	G	7: 141,563,147 (GRCm39)	F220S	probably damaging	Het
Mroh4	A	G	15: 74,486,865 (GRCm39)	I342T	probably damaging	Het
Naa15	T	C	3: 51,349,368 (GRCm39)	Y46H	probably damaging	Het
Neb	A	G	2: 52,224,465 (GRCm39)	V10A	unknown	Het
Nlrc5	A	G	8: 95,217,044 (GRCm39)	H1011R	probably damaging	Het
Nr1i3	A	G	1: 171,041,921 (GRCm39)	T2A	possibly damaging	Het
Nrros	T	C	16: 31,963,288 (GRCm39)	N207S	probably damaging	Het
Or52m2	A	T	7: 102,263,768 (GRCm39)	S143T	probably benign	Het
Or7c70	C	T	10: 78,683,609 (GRCm39)	V47M	probably benign	Het
Pcare	A	T	17: 72,059,635 (GRCm39)	V14D	probably damaging	Het
Ptprz1	C	T	6: 23,000,052 (GRCm39)	T714I	possibly damaging	Het
Rp1	T	C	1: 4,416,616 (GRCm39)	T1499A	possibly damaging	Het
Rubcn	T	C	16: 32,647,081 (GRCm39)	K771E	probably damaging	Het
Sbds	T	C	5: 130,275,247 (GRCm39)	E227G	possibly damaging	Het
Setd1a	C	T	7: 127,384,801 (GRCm39)	P8S	probably damaging	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Spef1	T	A	2: 131,014,661 (GRCm39)	D87V	probably damaging	Het
Supv3l1	C	T	10: 62,265,608 (GRCm39)	R644Q	probably damaging	Het
Thoc6	A	G	17: 23,889,769 (GRCm39)	F51S	probably damaging	Het
Tm4sf19	T	C	16: 32,226,739 (GRCm39)	L176P	probably damaging	Het
Tma16	A	G	8: 66,936,776 (GRCm39)	I17T	possibly damaging	Het
Tpd52l2	G	A	2: 181,143,847 (GRCm39)		probably null	Het
Ube2j1	C	T	4: 33,045,164 (GRCm39)	P146S	probably benign	Het
Ubr4	T	A	4: 139,208,099 (GRCm39)	I4960N	possibly damaging	Het
Usp13	A	G	3: 32,919,987 (GRCm39)	D224G	probably damaging	Het
Vmn2r12	A	T	5: 109,234,483 (GRCm39)	Y576*	probably null	Het
Vmn2r73	T	C	7: 85,507,575 (GRCm39)	D579G	possibly damaging	Het
Xpr1	T	C	1: 155,165,981 (GRCm39)	N524D	probably benign	Het
Xrn2	A	T	2: 146,871,675 (GRCm39)	I366L	probably benign	Het
Zfp236	A	T	18: 82,676,159 (GRCm39)	V386E	possibly damaging	Het
Zfp292	A	T	4: 34,806,261 (GRCm39)	L2261Q	probably damaging	Het
Zpld1	C	G	16: 55,046,725 (GRCm39)	E415Q	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
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'- CACACAGTTCAAGTGCTAATGC -3'
(R):5'- TAGCAAGTAGAATTTCAGCGTAAGG -3'

Sequencing Primer
(F):5'- GCTAAAGACATCACAGGATTTGGTAC -3'
(R):5'- CACAGTTGCTTTACACGGTAG -3'

Posted On

2016-10-05