Mutagenetix > Incidental Mutation

Incidental Mutation 'R9088:Uox'

690745

Institutional Source

Beutler Lab

Gene Symbol

Uox

Ensembl Gene

ENSMUSG00000028186

Gene Name

urate oxidase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R9088 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146302904-146337238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146330369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 199 (Y199C)

Ref Sequence

ENSEMBL: ENSMUSP00000029837 (fasta)

Gene Model

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

AlphaFold

P25688

Predicted Effect

probably damaging
Transcript: ENSMUST00000029837
AA Change: Y199C

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

SMART Domains

Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: Y199C

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 damaging
Transcript: ENSMUST00000121133
AA Change: Y126C

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

SMART Domains

Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
AA Change: Y126C

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 damaging
Transcript: ENSMUST00000199489
AA Change: Y175C

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

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: Y175C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,282,870 (GRCm39)	Y1212C		Het
Asah2	T	C	19: 32,030,360 (GRCm39)	Q104R	probably damaging	Het
Bnipl	T	A	3: 95,158,295 (GRCm39)	R9*	probably null	Het
Bpifa3	A	C	2: 153,975,685 (GRCm39)	N85T	possibly damaging	Het
C6	T	C	15: 4,792,956 (GRCm39)	Y354H	probably damaging	Het
Caln1	A	T	5: 130,443,617 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,321,451 (GRCm39)	F378L	probably benign	Het
Car6	T	C	4: 150,281,806 (GRCm39)	H125R	probably damaging	Het
Ccdc110	G	A	8: 46,394,882 (GRCm39)	E258K	probably damaging	Het
Cep295	C	A	9: 15,233,815 (GRCm39)	R2327L	probably benign	Het
Col14a1	T	A	15: 55,226,923 (GRCm39)	D224E	unknown	Het
Col16a1	T	A	4: 129,971,016 (GRCm39)	S938T	unknown	Het
Col4a2	A	G	8: 11,493,227 (GRCm39)	E1340G	possibly damaging	Het
Col6a6	C	T	9: 105,661,276 (GRCm39)	V278M	probably damaging	Het
Crybg2	T	A	4: 133,799,890 (GRCm39)	L41Q	probably damaging	Het
Ctss	A	T	3: 95,436,867 (GRCm39)	D50V	possibly damaging	Het
Ddx56	C	T	11: 6,209,612 (GRCm39)	A500T	probably benign	Het
Dmbt1	T	C	7: 130,718,418 (GRCm39)	V1713A	unknown	Het
Dnah1	T	C	14: 30,987,970 (GRCm39)	I3483V	probably benign	Het
E130308A19Rik	T	A	4: 59,737,594 (GRCm39)	F402I	probably benign	Het
Eml6	A	T	11: 29,768,424 (GRCm39)	H754Q	probably damaging	Het
Ern2	A	G	7: 121,772,890 (GRCm39)	Y576H	probably damaging	Het
Fat4	T	C	3: 39,061,448 (GRCm39)	S4344P	probably benign	Het
Fbxo40	A	G	16: 36,790,150 (GRCm39)	I320T		Het
Fbxw22	C	T	9: 109,207,952 (GRCm39)	D440N	probably damaging	Het
Fgd2	A	G	17: 29,583,913 (GRCm39)	E109G	probably damaging	Het
Gm19410	A	T	8: 36,240,766 (GRCm39)	D214V	probably damaging	Het
Hivep2	T	C	10: 14,006,995 (GRCm39)	Y1198H	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,511,762 (GRCm39)	K69E	unknown	Het
Lrrc8e	G	A	8: 4,284,410 (GRCm39)	V212M	probably damaging	Het
Map2	A	T	1: 66,453,773 (GRCm39)	S888C	probably damaging	Het
Met	G	T	6: 17,548,715 (GRCm39)	G920*	probably null	Het
Mlkl	G	T	8: 112,049,365 (GRCm39)	R253S		Het
Mmachc	T	A	4: 116,561,829 (GRCm39)	I102F	probably damaging	Het
Mnt	G	T	11: 74,733,880 (GRCm39)	V504L	unknown	Het
Mup14	C	T	4: 61,258,496 (GRCm39)	G96D	probably damaging	Het
Myh13	G	A	11: 67,242,885 (GRCm39)	E933K	probably damaging	Het
Ncoa6	A	G	2: 155,249,726 (GRCm39)	S1193P	probably damaging	Het
Nek10	T	C	14: 14,931,314 (GRCm38)	I762T	probably damaging	Het
Nmur1	G	T	1: 86,315,252 (GRCm39)	F204L	probably benign	Het
Or1ak2	A	G	2: 36,827,988 (GRCm39)	N286D	probably damaging	Het
Or52e15	G	T	7: 104,645,301 (GRCm39)	P270Q	probably damaging	Het
Or8a1	T	A	9: 37,641,806 (GRCm39)	I158F	probably damaging	Het
Pappa2	T	C	1: 158,763,927 (GRCm39)	Y528C	probably damaging	Het
Patl1	T	C	19: 11,920,289 (GRCm39)	S748P	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Polr1a	A	G	6: 71,908,767 (GRCm39)	T531A	probably benign	Het
Slit3	C	T	11: 35,012,463 (GRCm39)	S41F	possibly damaging	Het
Snap29	A	G	16: 17,246,058 (GRCm39)	Q226R	probably damaging	Het
Spmip2	G	A	3: 79,337,429 (GRCm39)	G185D	probably damaging	Het
Tmpo	A	G	10: 90,989,138 (GRCm39)		probably null	Het
Tnfrsf21	G	A	17: 43,348,607 (GRCm39)	G73E	probably damaging	Het
Tsc1	T	A	2: 28,552,617 (GRCm39)	C119S	possibly damaging	Het
Vav2	T	C	2: 27,187,708 (GRCm39)	D231G	possibly damaging	Het
Vmn2r80	A	T	10: 79,005,378 (GRCm39)	K338N	probably benign	Het
Xylt2	G	A	11: 94,561,229 (GRCm39)	T178I	probably benign	Het
Zfp931	G	T	2: 177,709,594 (GRCm39)	T264K	probably damaging	Het
Zgrf1	A	G	3: 127,377,326 (GRCm39)	D857G	probably benign	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
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
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
R9566:Uox	UTSW	3	146,330,308 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- ACGGTTCTGCTTATACTCACTCAG -3'
(R):5'- GTGCATGTATGTCTGAGAGTCAC -3'

Sequencing Primer
(F):5'- AGTGCTACCCTTCTGTCTGG -3'
(R):5'- GAAACACCATCTGGAGTTGTTCG -3'

Posted On

2021-12-30