Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Uox'

225826

Institutional Source

Beutler Lab

Gene Symbol

Uox

Ensembl Gene

ENSMUSG00000028186

Gene Name

urate oxidase

Synonyms

MMRRC Submission

040010-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146302904-146337238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 146316154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 30 (K30Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029837] [ENSMUST00000121133] [ENSMUST00000147409] [ENSMUST00000199489] [ENSMUST00000200633]

AlphaFold

P25688

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029837
AA Change: K54Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: K54Q

Domain	Start	End	E-Value	Type
Pfam:Uricase	19	144	8.7e-25	PFAM
Pfam:Uricase	153	292	5.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121133

SMART Domains

Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	2	72	1.2e-19	PFAM
Pfam:Uricase	79	181	8.5e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138921

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147409
AA Change: K30Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143299
Gene: ENSMUSG00000028186
AA Change: K30Q

Domain	Start	End	E-Value	Type
Pfam:Uricase	1	73	1.1e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197320

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199489
AA Change: K30Q

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: K30Q

Domain	Start	End	E-Value	Type
Pfam:Uricase	1	121	8.3e-35	PFAM
Pfam:Uricase	128	228	1.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200633

SMART Domains

Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DNase_II	26	353	4.5e-117	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

MGI Phenotype

PHENOTYPE: Homozygous null mutants exhibit marked hyperuricemia and urate nephropathy. Most mutants die prior to four weeks of age. Homozygotes for a large paracentric inversion disrupting this same gene exhibit a similar phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,693,584 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,777,508 (GRCm39)	Y186H	probably damaging	Het
Birc6	T	C	17: 74,911,614 (GRCm39)	V1528A	possibly damaging	Het
Brpf3	A	C	17: 29,040,531 (GRCm39)	E984A	probably benign	Het
Btnl9	T	C	11: 49,059,948 (GRCm39)	N600S	probably benign	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874 (GRCm39)	L136H	probably damaging	Het
Cd46	A	G	1: 194,760,012 (GRCm39)	I280T	probably benign	Het
Cip2a	A	T	16: 48,835,332 (GRCm39)	Q699L	probably damaging	Het
Crebbp	A	T	16: 3,902,116 (GRCm39)	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,870,160 (GRCm39)		probably benign	Het
Dph7	T	A	2: 24,861,653 (GRCm39)	D355E	probably benign	Het
Dync1li1	C	A	9: 114,542,631 (GRCm39)	F264L	probably benign	Het
Fer1l6	G	A	15: 58,474,160 (GRCm39)		probably benign	Het
Flt3	T	C	5: 147,278,048 (GRCm39)	D842G	probably damaging	Het
Fosl1	A	G	19: 5,500,383 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,084,400 (GRCm39)	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113 (GRCm39)	F14S	probably benign	Het
Gm15446	T	C	5: 110,090,677 (GRCm39)	S310P	possibly damaging	Het
Gmppa	A	C	1: 75,418,172 (GRCm39)	D190A	probably damaging	Het
Gpr108	C	T	17: 57,543,712 (GRCm39)	G455S	probably benign	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Gvin-ps6	G	A	7: 106,022,438 (GRCm39)	S188L	probably benign	Het
Gzf1	T	C	2: 148,526,531 (GRCm39)	I334T	probably benign	Het
Hadh	A	T	3: 131,038,888 (GRCm39)	I156K	probably benign	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Ice1	C	T	13: 70,750,546 (GRCm39)	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,222,354 (GRCm39)	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,716,176 (GRCm39)	Y978*	probably null	Het
Kif1a	G	T	1: 92,982,051 (GRCm39)	T792N	probably damaging	Het
Lgals9	T	C	11: 78,863,996 (GRCm39)	N50D	probably benign	Het
Lrp2	A	G	2: 69,297,434 (GRCm39)	Y3176H	probably damaging	Het
Lvrn	A	T	18: 47,038,374 (GRCm39)	N976I	probably benign	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Myo1c	A	T	11: 75,561,405 (GRCm39)	M820L	probably damaging	Het
Neb	A	T	2: 52,102,982 (GRCm39)	C4222*	probably null	Het
Nkain2	T	A	10: 32,766,281 (GRCm39)		probably benign	Het
Or10g6	A	G	9: 39,933,985 (GRCm39)	I99V	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Parp4	C	T	14: 56,851,181 (GRCm39)	T728M	probably damaging	Het
Pnma8a	T	A	7: 16,694,964 (GRCm39)	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,887,446 (GRCm39)	E486G	probably damaging	Het
Pth2	C	A	7: 44,831,146 (GRCm39)	R98S	possibly damaging	Het
Ramacl	A	T	13: 67,056,214 (GRCm39)	N69I	possibly damaging	Het
Rif1	T	A	2: 51,971,310 (GRCm39)	F263I	probably damaging	Het
Rnf213	A	T	11: 119,326,848 (GRCm39)	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,560,321 (GRCm39)	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,176,206 (GRCm39)	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,050,200 (GRCm39)	E273G	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttf1	T	A	2: 28,955,197 (GRCm39)	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,293,166 (GRCm39)		probably null	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Wwc1	A	T	11: 35,767,374 (GRCm39)	L419Q	probably damaging	Het
Xrn1	C	T	9: 95,927,616 (GRCm39)	Q1463*	probably null	Het
Yeats2	G	A	16: 20,005,141 (GRCm39)	A393T	probably benign	Het
Zfp101	C	T	17: 33,600,491 (GRCm39)	A422T	possibly damaging	Het

Other mutations in Uox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Uox	APN	3	146,333,565 (GRCm39)	missense	probably benign	0.00
IGL00902:Uox	APN	3	146,316,161 (GRCm39)	missense	possibly damaging	0.95
IGL02409:Uox	APN	3	146,330,381 (GRCm39)	missense	probably benign	0.06
IGL02827:Uox	APN	3	146,302,951 (GRCm39)	intron	probably benign
IGL02979:Uox	APN	3	146,316,246 (GRCm39)	splice site	probably null
IGL03375:Uox	APN	3	146,331,590 (GRCm39)	missense	probably damaging	1.00
kamloops	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
vancouver	UTSW	3	146,318,047 (GRCm39)	missense	probably damaging	1.00
R1350:Uox	UTSW	3	146,330,330 (GRCm39)	missense	probably damaging	1.00
R1634:Uox	UTSW	3	146,318,138 (GRCm39)	nonsense	probably null
R1900:Uox	UTSW	3	146,316,134 (GRCm39)	missense	probably damaging	1.00
R2119:Uox	UTSW	3	146,318,297 (GRCm39)	missense	probably benign	0.01
R5329:Uox	UTSW	3	146,330,300 (GRCm39)	missense	probably damaging	1.00
R5606:Uox	UTSW	3	146,316,057 (GRCm39)	nonsense	probably null
R6281:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6327:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6337:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6364:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6365:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6369:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6483:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6492:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6494:Uox	UTSW	3	146,330,332 (GRCm39)	nonsense	probably null
R6556:Uox	UTSW	3	146,330,403 (GRCm39)	critical splice donor site	probably null
R6803:Uox	UTSW	3	146,318,264 (GRCm39)	missense	possibly damaging	0.91
R7809:Uox	UTSW	3	146,333,613 (GRCm39)	nonsense	probably null
R7868:Uox	UTSW	3	146,316,029 (GRCm39)	missense	probably benign	0.01
R8131:Uox	UTSW	3	146,331,589 (GRCm39)	missense	probably damaging	1.00
R8931:Uox	UTSW	3	146,318,047 (GRCm39)	missense	probably damaging	1.00
R9088:Uox	UTSW	3	146,330,369 (GRCm39)	missense	probably damaging	1.00
R9566:Uox	UTSW	3	146,330,308 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- CTGGCATGCTTAACTTCACC -3'
(R):5'- CGGAGCAAGCTTTTCTGTAAG -3'

Sequencing Primer
(F):5'- GGCATGCTTAACTTCACCTAGCC -3'
(R):5'- GAAAAGTTTAAAAACGGCATACATGC -3'

Posted On

2014-08-25