Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Uox'

512835

Institutional Source

Beutler Lab

Gene Symbol

Uox

Ensembl Gene

ENSMUSG00000028186

Gene Name

urate oxidase

Synonyms

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.523) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146302904-146337238 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 146330332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 163 (R163*)

Ref Sequence

ENSEMBL: ENSMUSP00000143418 (fasta)

Gene Model

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

AlphaFold

P25688

Predicted Effect

probably null
Transcript: ENSMUST00000029837
AA Change: R187*

SMART Domains

Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: R187*

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 null
Transcript: ENSMUST00000121133
AA Change: R114*

SMART Domains

Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
AA Change: R114*

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

Predicted Effect

probably null
Transcript: ENSMUST00000199489
AA Change: R163*

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: R163*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 14,055,605 (GRCm39)	R571*	probably null	Het
Asb18	A	T	1: 89,942,193 (GRCm39)	I36N	probably damaging	Het
Ascc3	G	A	10: 50,576,081 (GRCm39)	G779S	probably damaging	Het
Atl2	T	C	17: 80,161,984 (GRCm39)	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,220,315 (GRCm39)	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,531,765 (GRCm39)	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,735,848 (GRCm39)	N256S	probably benign	Het
Cchcr1	T	C	17: 35,839,073 (GRCm39)	I474T	probably damaging	Het
Cd209c	T	C	8: 3,994,984 (GRCm39)	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,848,381 (GRCm39)	D171Y	probably damaging	Het
Crb1	C	T	1: 139,165,200 (GRCm39)	V975M	probably damaging	Het
Csmd1	C	T	8: 17,585,020 (GRCm39)		probably benign	Het
Ctnna2	A	G	6: 76,957,678 (GRCm39)	S524P	possibly damaging	Het
Eno1	T	C	4: 150,324,025 (GRCm39)		probably null	Het
Ero1a	T	C	14: 45,537,415 (GRCm39)	I170M	probably damaging	Het
Fam186a	A	G	15: 99,845,212 (GRCm39)	M344T	unknown	Het
Frem1	A	T	4: 82,832,029 (GRCm39)		probably null	Het
Gjb5	G	T	4: 127,249,723 (GRCm39)	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hk2	G	T	6: 82,713,734 (GRCm39)	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,411,427 (GRCm39)	I322F	probably benign	Het
Itga1	T	C	13: 115,102,196 (GRCm39)	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,693 (GRCm39)	L1295S	probably damaging	Het
Macf1	T	C	4: 123,304,355 (GRCm39)	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,618,209 (GRCm39)	D96E	probably benign	Het
Megf10	A	T	18: 57,394,259 (GRCm39)	D461V	probably benign	Het
Myom1	T	C	17: 71,408,071 (GRCm39)	S1104P	probably damaging	Het
Nab1	A	G	1: 52,529,381 (GRCm39)	L172P	probably damaging	Het
Or2g1	T	G	17: 38,106,387 (GRCm39)	D17E	probably benign	Het
Pate1	A	G	9: 35,598,324 (GRCm39)	V18A	probably benign	Het
Pink1	T	C	4: 138,048,045 (GRCm39)		probably null	Het
Pnpla1	T	A	17: 29,097,455 (GRCm39)	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Ppp1r21	C	A	17: 88,889,840 (GRCm39)		probably null	Het
Rad52	A	G	6: 119,891,168 (GRCm39)	E76G	unknown	Het
Rad54l	A	G	4: 115,968,386 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,267,954 (GRCm39)	M17V	probably benign	Het
Rbm42	A	G	7: 30,340,738 (GRCm39)	M411T	unknown	Het
Reln	A	G	5: 22,256,359 (GRCm39)	I495T	probably benign	Het
Rnf224	A	G	2: 25,125,954 (GRCm39)	F133S	probably damaging	Het
Rrm1	C	A	7: 102,095,909 (GRCm39)	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,053,962 (GRCm39)	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,008,483 (GRCm39)	N127K	probably benign	Het
Skint7	A	T	4: 111,837,490 (GRCm39)	E89D	probably benign	Het
Slc22a5	T	G	11: 53,782,196 (GRCm39)	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,799,982 (GRCm39)	F263I	probably damaging	Het
Sncaip	A	G	18: 53,001,676 (GRCm39)	I66V	probably damaging	Het
Syngr1	A	C	15: 79,999,791 (GRCm39)		probably benign	Het
Tbc1d2	A	G	4: 46,614,420 (GRCm39)	Y554H	probably benign	Het
Tmem198	T	C	1: 75,456,387 (GRCm39)	V44A	probably benign	Het
Trappc11	T	C	8: 47,965,320 (GRCm39)		probably null	Het
Vmn2r111	C	T	17: 22,767,583 (GRCm39)	C638Y	probably damaging	Het
Washc4	A	G	10: 83,410,308 (GRCm39)	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,907,831 (GRCm39)	V270A	probably benign	Het
Zfp92	G	A	X: 72,465,574 (GRCm39)	R189H	possibly damaging	Homo

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
R2000:Uox	UTSW	3	146,316,154 (GRCm39)	missense	possibly damaging	0.65
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
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'- ATCCATAGAGAAGGGACGCC -3'
(R):5'- GTCCCAAAGAACTAGGAATTTGAG -3'

Sequencing Primer
(F):5'- CCACCAGAGACAAGTGATTGGTG -3'
(R):5'- AGGAATTTGAGTTGACAGTTTCCTC -3'

Posted On

2018-04-27