Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4651001:Uroc1'

556661

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4651001 (G1)

Quality Score

82.0076

Status

Not validated

Chromosome

Chromosomal Location

90333284-90364551 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 90363113 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 667 (R667*)

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]

AlphaFold

Q8VC12

Predicted Effect

probably null
Transcript: ENSMUST00000046128
AA Change: R633*

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: R633*

Domain	Start	End	E-Value	Type
Pfam:Urocanase	84	662	2.7e-231	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164761
AA Change: R667*

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: R667*

Domain	Start	End	E-Value	Type
Pfam:Urocanase	85	316	1.4e-102	PFAM
Pfam:Urocanase	319	683	8.7e-144	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.7%
10x: 84.4%
20x: 70.4%

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 involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,259,895	I428L	probably benign	Het
Aass	T	C	6: 23,118,751	I131V	probably benign	Het
Alcam	T	A	16: 52,295,187	K189N	probably benign	Het
Ankrd50	C	A	3: 38,455,810	E803*	probably null	Het
Ankrd53	A	G	6: 83,765,733	D236G	probably damaging	Het
Bard1	A	G	1: 71,074,928	V298A	probably benign	Het
Cacna1d	C	T	14: 30,178,645	G361D	probably damaging	Het
Camkk1	A	G	11: 73,025,821	S82G	probably benign	Het
Ccr4	A	T	9: 114,492,193	V268E	probably benign	Het
Cdh6	G	A	15: 13,044,719	S439L	possibly damaging	Het
Ces1e	G	T	8: 93,215,083	A254E	probably benign	Het
Cfap46	T	C	7: 139,645,551	T1078A		Het
Cyp46a1	A	G	12: 108,353,108	D288G	probably benign	Het
Dnah6	T	C	6: 73,060,260	N3333S	probably benign	Het
Dzip3	A	G	16: 48,944,878	V491A	probably benign	Het
Egr1	G	T	18: 34,863,187	E341*	probably null	Het
Enpp1	G	A	10: 24,653,950	P597S	probably benign	Het
Ercc3	A	T	18: 32,240,312		probably benign	Het
Fam160a1	C	T	3: 85,683,641	A389T	probably damaging	Het
Fbn1	T	C	2: 125,363,989		probably null	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Gbf1	A	G	19: 46,163,543	N5S	probably benign	Het
Gbp4	T	A	5: 105,118,423	H584L	probably benign	Het
Gcgr	G	T	11: 120,538,142	C402F	probably damaging	Het
Gm3550	A	T	18: 34,737,839	Q142L	unknown	Het
Grm7	T	A	6: 110,646,089	N74K	probably benign	Het
Hils1	A	G	11: 94,968,316	S146G	probably benign	Het
Hoxa10	T	G	6: 52,234,897	N13T	possibly damaging	Het
Ice1	A	T	13: 70,623,921		probably null	Het
Il22	C	A	10: 118,205,590	N69K	probably damaging	Het
Il9r	A	T	11: 32,191,798	H319Q	probably benign	Het
Itgax	A	G	7: 128,149,110	T1104A	probably benign	Het
Jag1	C	T	2: 137,101,697	G193D	probably damaging	Het
Krt13	T	A	11: 100,120,036	D164V	probably damaging	Het
Lepr	T	C	4: 101,791,997	M865T	probably damaging	Het
Lmf2	G	A	15: 89,352,069	H576Y	possibly damaging	Het
Lrrc8c	C	T	5: 105,608,323	H655Y	probably benign	Het
Mapk6	A	T	9: 75,397,587	S183T	possibly damaging	Het
Mcrs1	A	T	15: 99,246,951	Y261N	probably damaging	Het
Mon1b	G	A	8: 113,638,622	G194D	probably benign	Het
Myo18b	C	T	5: 112,834,435	R1144Q	probably benign	Het
Myo9b	T	A	8: 71,342,812	H808Q	possibly damaging	Het
Ngdn	T	C	14: 55,016,200	I15T	probably benign	Het
Nhsl1	T	G	10: 18,408,435	S41R	probably damaging	Het
Numa1	A	T	7: 102,013,934	K2089M	probably damaging	Het
Obscn	A	G	11: 59,041,681	L4900P	probably damaging	Het
Olfm4	T	A	14: 80,021,485	L391Q	probably benign	Het
Olfr1034	T	C	2: 86,046,518	L12P	probably damaging	Het
Olfr1459	T	A	19: 13,146,627	I11F	probably benign	Het
Olfr1465	A	G	19: 13,314,192	I31T	probably benign	Het
Olfr705	A	G	7: 106,873,523	C241R	probably damaging	Het
Olfr980	A	T	9: 40,006,230	C240S	probably damaging	Het
Park2	T	A	17: 11,067,243	L41Q	probably damaging	Het
Parn	T	A	16: 13,631,567	N302Y	probably benign	Het
Pi4k2b	T	G	5: 52,748,470	S118A	possibly damaging	Het
Piwil4	C	T	9: 14,708,899	V704I	possibly damaging	Het
Pm20d2	G	A	4: 33,181,715	T296M	probably damaging	Het
Pmpcb	C	T	5: 21,746,050	A270V	probably benign	Het
Pnpt1	T	C	11: 29,156,945		probably null	Het
Rc3h1	C	A	1: 160,963,540	N931K	probably benign	Het
Rlf	A	G	4: 121,150,313	V600A	probably damaging	Het
Rnf219	T	A	14: 104,506,256	D129V	probably damaging	Het
Sall1	T	G	8: 89,031,103	Q791P	probably damaging	Het
Sema3c	T	A	5: 17,694,733	Y408N	probably benign	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Tmem181a	A	T	17: 6,300,895	M319L	probably benign	Het
Trim24	T	C	6: 37,900,732		probably null	Het
Ttn	T	A	2: 76,888,934	T7234S	unknown	Het
Unc13c	T	A	9: 73,483,739	M2076L	possibly damaging	Het
Uvrag	A	G	7: 98,906,520	F456L	probably benign	Het
Vmn1r215	T	C	13: 23,076,360	V190A	probably damaging	Het
Vmn2r50	T	A	7: 10,037,732	T681S	probably benign	Het
Vmn2r65	T	A	7: 84,946,253	T408S	probably benign	Het
Vps33b	A	G	7: 80,290,007	D502G	probably damaging	Het

Other mutations in Uroc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Uroc1	APN	6	90338828	missense	probably benign
IGL01015:Uroc1	APN	6	90358901	splice site	probably benign
IGL01386:Uroc1	APN	6	90346765	missense	probably damaging	0.99
IGL01449:Uroc1	APN	6	90338653	missense	probably damaging	1.00
IGL01514:Uroc1	APN	6	90363100	splice site	probably benign
IGL02060:Uroc1	APN	6	90338255	missense	probably benign	0.03
IGL02247:Uroc1	APN	6	90347928	missense	probably benign	0.00
IGL02256:Uroc1	APN	6	90346687	missense	possibly damaging	0.83
IGL02886:Uroc1	APN	6	90346829	splice site	probably benign
IGL03087:Uroc1	APN	6	90363103	splice site	probably benign
R0034:Uroc1	UTSW	6	90345310	missense	probably damaging	1.00
R0245:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R0402:Uroc1	UTSW	6	90347302	missense	probably damaging	1.00
R0570:Uroc1	UTSW	6	90338564	missense	possibly damaging	0.90
R0729:Uroc1	UTSW	6	90336955	missense	probably damaging	1.00
R1471:Uroc1	UTSW	6	90344171	missense	probably damaging	1.00
R1782:Uroc1	UTSW	6	90336919	missense	probably damaging	1.00
R1866:Uroc1	UTSW	6	90361524	missense	probably benign	0.03
R1983:Uroc1	UTSW	6	90345369	missense	probably damaging	1.00
R2086:Uroc1	UTSW	6	90344114	missense	probably damaging	1.00
R2321:Uroc1	UTSW	6	90347247	missense	possibly damaging	0.94
R3720:Uroc1	UTSW	6	90346355	missense	probably damaging	1.00
R3874:Uroc1	UTSW	6	90361512	nonsense	probably null
R4628:Uroc1	UTSW	6	90355328	missense	probably damaging	0.99
R4810:Uroc1	UTSW	6	90363153	missense	probably damaging	1.00
R4820:Uroc1	UTSW	6	90357618	critical splice donor site	probably null
R4838:Uroc1	UTSW	6	90349192	missense	possibly damaging	0.90
R4880:Uroc1	UTSW	6	90357537	missense	probably damaging	1.00
R4964:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R4966:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R5468:Uroc1	UTSW	6	90338604	missense	probably benign	0.45
R5592:Uroc1	UTSW	6	90355344	missense	probably damaging	0.99
R5698:Uroc1	UTSW	6	90347320	missense	probably damaging	1.00
R5789:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R5853:Uroc1	UTSW	6	90346756	missense	probably damaging	0.99
R6063:Uroc1	UTSW	6	90347928	missense	probably benign	0.37
R6883:Uroc1	UTSW	6	90338592	nonsense	probably null
R7374:Uroc1	UTSW	6	90338833	missense	probably damaging	1.00
R7394:Uroc1	UTSW	6	90345333	missense	probably damaging	1.00
R7427:Uroc1	UTSW	6	90346362	missense	possibly damaging	0.56
R8224:Uroc1	UTSW	6	90344067	splice site	probably null
R8376:Uroc1	UTSW	6	90337715	missense	probably damaging	0.99
R8807:Uroc1	UTSW	6	90351128	missense	probably damaging	1.00
R8857:Uroc1	UTSW	6	90357528	missense	possibly damaging	0.74
X0021:Uroc1	UTSW	6	90344150	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TAGGGCTGGTTTCAGATTGAAAAG -3'
(R):5'- AGTGCCATGTAGGGATGCAG -3'

Sequencing Primer
(F):5'- TGGTTTCAGATTGAAAAGAGGATTAG -3'
(R):5'- TCATGAGCTGCGAGGGG -3'

Posted On

2019-06-07