Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Uroc1'

576171

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90333284-90364551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90346362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 354 (D354V)

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

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

AlphaFold

Q8VC12

Predicted Effect

probably benign
Transcript: ENSMUST00000046128
AA Change: D320V

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: D320V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164761
AA Change: D354V

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: D354V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	C	T	2: 23,256,994	R337C	probably benign	Het
Adck5	T	A	15: 76,594,385	C318S	possibly damaging	Het
Aspm	T	A	1: 139,457,616	C333S	probably benign	Het
B3gnt4	A	G	5: 123,510,731	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,225,122	M98I	probably benign	Het
Cacna2d3	A	G	14: 29,064,275	M585T	probably damaging	Het
Cbarp	T	C	10: 80,131,304	D701G	probably damaging	Het
Cntrl	T	A	2: 35,170,534	W1913R	probably benign	Het
Cry2	T	C	2: 92,413,047	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,023,850	F2044L	possibly damaging	Het
Ctgf	T	G	10: 24,597,499	M312R	probably damaging	Het
Cxcl16	A	G	11: 70,458,804	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,810,240	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,170,416	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,381,538	R154G	unknown	Het
Dnah9	T	C	11: 65,955,219	T2998A	probably benign	Het
Focad	T	C	4: 88,368,751	S1254P	unknown	Het
Gm21886	A	T	18: 80,089,652	L97Q	probably damaging	Het
Gm6614	T	G	6: 142,003,508		probably null	Het
Gpr158	A	C	2: 21,827,318	L1076F	probably benign	Het
Hivep2	T	C	10: 14,133,741	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,267,899	V154A	probably benign	Het
Hpdl	A	T	4: 116,820,865	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,349,542	T150K	probably benign	Het
Il6st	A	G	13: 112,488,560	I237V	probably benign	Het
Inpp5f	A	G	7: 128,679,805	D510G	probably damaging	Het
Ism2	G	T	12: 87,286,995	T92K	possibly damaging	Het
Kif13b	T	C	14: 64,788,460	I1422T	probably benign	Het
Kit	G	A	5: 75,645,847	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,302,967	N190I	probably damaging	Het
Lad1	C	T	1: 135,825,838	T41I	probably damaging	Het
Lrrc7	G	T	3: 158,198,141	T294K	probably benign	Het
Megf8	C	T	7: 25,338,371	R771C	probably benign	Het
Micu3	A	C	8: 40,378,914	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,474,213	N291D	unknown	Het
Mthfr	A	G	4: 148,051,603	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454	D79E	probably benign	Het
Myzap	T	C	9: 71,505,183	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,371,435	D907G	probably benign	Het
Nr1h4	T	C	10: 89,498,405	E41G	probably benign	Het
Nup98	A	T	7: 102,135,001		probably null	Het
Nxpe5	A	C	5: 138,239,760	Y194S	probably damaging	Het
Olfr1024	T	A	2: 85,904,131	R308*	probably null	Het
Olfr1032	A	T	2: 86,008,219	I148L	probably benign	Het
Olfr105-ps	T	C	17: 37,383,299	V244A	probably damaging	Het
Olfr1121	G	T	2: 87,371,690	V53L	probably benign	Het
Olfr332	A	G	11: 58,489,780	I325T	probably benign	Het
Olfr466	A	G	13: 65,153,052	Y276C	probably damaging	Het
Olfr554	A	G	7: 102,640,326	I27V	probably benign	Het
Omd	A	T	13: 49,592,269	E385V	possibly damaging	Het
Pcdh9	G	T	14: 93,887,111	T541K	probably damaging	Het
Pdia6	T	C	12: 17,278,545	V167A	probably damaging	Het
Phf7	C	T	14: 31,240,413	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,137,424	D20G	possibly damaging	Het
Plxnb1	T	C	9: 109,108,168	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995	N226K	probably damaging	Het
Ppp1r10	T	A	17: 35,930,133	H642Q	possibly damaging	Het
Prom2	A	G	2: 127,539,811	L195P	probably damaging	Het
Psg23	C	T	7: 18,611,983		probably null	Het
Rfx4	C	A	10: 84,896,012	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,248,824	I15N	probably damaging	Het
Rhot2	A	T	17: 25,841,609	V233E	probably damaging	Het
Ripply2	T	C	9: 87,019,756	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,214,132	T861N	probably benign	Het
Slc35f1	T	A	10: 53,089,414	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,298,898	I427F	probably damaging	Het
Sned1	G	A	1: 93,289,358	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,365,944	V17M	unknown	Het
Srd5a3	A	G	5: 76,154,643	H285R	probably benign	Het
Stab1	T	C	14: 31,159,259	T605A	probably benign	Het
Syne1	T	C	10: 5,273,718	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,038,308	T27A	probably benign	Het
Tmem150b	A	T	7: 4,716,210	V237E	probably benign	Het
Trpv6	C	T	6: 41,625,153	M407I	probably benign	Het
Ttn	T	G	2: 76,720,354	D31528A	probably damaging	Het
Vmn2r69	T	C	7: 85,411,259	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Zfp971	T	A	2: 178,033,174	C189S	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
PIT4651001:Uroc1	UTSW	6	90363113	nonsense	probably null
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
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
R9418:Uroc1	UTSW	6	90336898	missense	probably benign	0.00
R9440:Uroc1	UTSW	6	90345371	missense	possibly damaging	0.94
X0021:Uroc1	UTSW	6	90344150	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GGCCCACACATTGACATAAGTTC -3'
(R):5'- CACTCTGTAGGCAGTGTCTG -3'

Sequencing Primer
(F):5'- ACACAAGCCCTAGGTGGC -3'
(R):5'- GCTCTCTCCTTTGCAAAGTG -3'

Posted On

2019-10-07