Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03375:Uox'

420461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Uox

Ensembl Gene

ENSMUSG00000028186

Gene Name

urate oxidase

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.597) question?

Stock #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

146570426-146632305 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146625835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 213 (T213I)

Ref Sequence

ENSEMBL: ENSMUSP00000143418 (fasta)

Gene Model

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

AlphaFold

P25688

Predicted Effect

probably damaging
Transcript: ENSMUST00000029837
AA Change: T237I

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

SMART Domains

Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: T237I

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: T164I

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

SMART Domains

Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186
AA Change: T164I

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: T213I

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

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186
AA Change: T213I

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,602,828	S959P	probably damaging	Het
Arrb2	G	A	11: 70,436,179	G24D	probably damaging	Het
Catsper4	A	G	4: 134,218,208	I180T	probably damaging	Het
Chst15	G	A	7: 132,270,457	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,162,205	Y594F	possibly damaging	Het
Cse1l	T	A	2: 166,943,057		probably benign	Het
Dab1	A	T	4: 104,681,601	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,422,318	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,838,220		probably benign	Het
Fryl	C	A	5: 73,088,449	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,426,210		probably benign	Het
Gm960	T	C	19: 4,698,178	E164G	probably benign	Het
Gstt2	A	T	10: 75,832,821		probably null	Het
Hcst	T	G	7: 30,418,611		probably benign	Het
Hectd4	A	G	5: 121,328,382	E2420G	possibly damaging	Het
Hist2h4	T	C	3: 96,263,142	T55A	possibly damaging	Het
Ifi206	A	T	1: 173,480,778	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,769,487		probably benign	Het
Krtap6-2	A	G	16: 89,419,756	Y108H	unknown	Het
Krtap6-5	T	G	16: 89,047,852		probably benign	Het
Muc5b	A	G	7: 141,861,962	T2882A	possibly damaging	Het
Nup214	C	T	2: 32,010,221	T854M	probably damaging	Het
Olfml2b	A	G	1: 170,649,832	K179E	probably benign	Het
Olfr1281	A	T	2: 111,328,884	H155L	probably damaging	Het
Olfr149	A	G	9: 39,702,575	S65P	probably damaging	Het
Per2	A	T	1: 91,424,228	I852K	possibly damaging	Het
Pkhd1	A	T	1: 20,117,023	I3687N	probably damaging	Het
Slc7a2	A	T	8: 40,916,373	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,482,912	V719I	probably damaging	Het
Syne2	T	C	12: 75,925,435	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,447,719	A658V	possibly damaging	Het
Tpm3	A	G	3: 90,073,772	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trmu	T	A	15: 85,894,937	Y262N	possibly damaging	Het
Vps13d	A	G	4: 145,091,947	W2R	probably damaging	Het

Other mutations in Uox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Uox	APN	3	146627810	missense	probably benign	0.00
IGL00902:Uox	APN	3	146610406	missense	possibly damaging	0.95
IGL02409:Uox	APN	3	146624626	missense	probably benign	0.06
IGL02827:Uox	APN	3	146597196	intron	probably benign
IGL02979:Uox	APN	3	146610491	splice site	probably null
kamloops	UTSW	3	146624577	nonsense	probably null
vancouver	UTSW	3	146612292	missense	probably damaging	1.00
R1350:Uox	UTSW	3	146624575	missense	probably damaging	1.00
R1634:Uox	UTSW	3	146612383	nonsense	probably null
R1900:Uox	UTSW	3	146610379	missense	probably damaging	1.00
R2000:Uox	UTSW	3	146610399	missense	possibly damaging	0.65
R2119:Uox	UTSW	3	146612542	missense	probably benign	0.01
R5329:Uox	UTSW	3	146624545	missense	probably damaging	1.00
R5606:Uox	UTSW	3	146610302	nonsense	probably null
R6281:Uox	UTSW	3	146624577	nonsense	probably null
R6327:Uox	UTSW	3	146624577	nonsense	probably null
R6337:Uox	UTSW	3	146624577	nonsense	probably null
R6364:Uox	UTSW	3	146624577	nonsense	probably null
R6365:Uox	UTSW	3	146624577	nonsense	probably null
R6369:Uox	UTSW	3	146624577	nonsense	probably null
R6483:Uox	UTSW	3	146624577	nonsense	probably null
R6492:Uox	UTSW	3	146624577	nonsense	probably null
R6494:Uox	UTSW	3	146624577	nonsense	probably null
R6556:Uox	UTSW	3	146624648	critical splice donor site	probably null
R6803:Uox	UTSW	3	146612509	missense	possibly damaging	0.91
R7809:Uox	UTSW	3	146627858	nonsense	probably null
R7868:Uox	UTSW	3	146610274	missense	probably benign	0.01
R8131:Uox	UTSW	3	146625834	missense	probably damaging	1.00
R8931:Uox	UTSW	3	146612292	missense	probably damaging	1.00
R9088:Uox	UTSW	3	146624614	missense	probably damaging	1.00
R9566:Uox	UTSW	3	146624553	missense	possibly damaging	0.65

Posted On

2016-08-02