Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Uroc1'

67379

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

038910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90310266-90341533 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90313937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 75 (Y75N)

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

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

AlphaFold

Q8VC12

Predicted Effect

probably damaging
Transcript: ENSMUST00000046128
AA Change: Y75N

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

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: Y75N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164761
AA Change: Y75N

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

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: Y75N

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

Meta Mutation Damage Score

0.7169

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Dhx32	G	A	7: 133,339,150 (GRCm39)	T155I	probably benign	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	probably benign	Het

Other mutations in Uroc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Uroc1	APN	6	90,315,810 (GRCm39)	missense	probably benign
IGL01015:Uroc1	APN	6	90,335,883 (GRCm39)	splice site	probably benign
IGL01386:Uroc1	APN	6	90,323,747 (GRCm39)	missense	probably damaging	0.99
IGL01449:Uroc1	APN	6	90,315,635 (GRCm39)	missense	probably damaging	1.00
IGL01514:Uroc1	APN	6	90,340,082 (GRCm39)	splice site	probably benign
IGL02060:Uroc1	APN	6	90,315,237 (GRCm39)	missense	probably benign	0.03
IGL02247:Uroc1	APN	6	90,324,910 (GRCm39)	missense	probably benign	0.00
IGL02256:Uroc1	APN	6	90,323,669 (GRCm39)	missense	possibly damaging	0.83
IGL02886:Uroc1	APN	6	90,323,811 (GRCm39)	splice site	probably benign
IGL03087:Uroc1	APN	6	90,340,085 (GRCm39)	splice site	probably benign
PIT4651001:Uroc1	UTSW	6	90,340,095 (GRCm39)	nonsense	probably null
R0034:Uroc1	UTSW	6	90,322,292 (GRCm39)	missense	probably damaging	1.00
R0245:Uroc1	UTSW	6	90,321,179 (GRCm39)	missense	probably damaging	1.00
R0402:Uroc1	UTSW	6	90,324,284 (GRCm39)	missense	probably damaging	1.00
R0570:Uroc1	UTSW	6	90,315,546 (GRCm39)	missense	possibly damaging	0.90
R1471:Uroc1	UTSW	6	90,321,153 (GRCm39)	missense	probably damaging	1.00
R1782:Uroc1	UTSW	6	90,313,901 (GRCm39)	missense	probably damaging	1.00
R1866:Uroc1	UTSW	6	90,338,506 (GRCm39)	missense	probably benign	0.03
R1983:Uroc1	UTSW	6	90,322,351 (GRCm39)	missense	probably damaging	1.00
R2086:Uroc1	UTSW	6	90,321,096 (GRCm39)	missense	probably damaging	1.00
R2321:Uroc1	UTSW	6	90,324,229 (GRCm39)	missense	possibly damaging	0.94
R3720:Uroc1	UTSW	6	90,323,337 (GRCm39)	missense	probably damaging	1.00
R3874:Uroc1	UTSW	6	90,338,494 (GRCm39)	nonsense	probably null
R4628:Uroc1	UTSW	6	90,332,310 (GRCm39)	missense	probably damaging	0.99
R4810:Uroc1	UTSW	6	90,340,135 (GRCm39)	missense	probably damaging	1.00
R4820:Uroc1	UTSW	6	90,334,600 (GRCm39)	critical splice donor site	probably null
R4838:Uroc1	UTSW	6	90,326,174 (GRCm39)	missense	possibly damaging	0.90
R4880:Uroc1	UTSW	6	90,334,519 (GRCm39)	missense	probably damaging	1.00
R4964:Uroc1	UTSW	6	90,322,376 (GRCm39)	missense	probably damaging	0.98
R4966:Uroc1	UTSW	6	90,322,376 (GRCm39)	missense	probably damaging	0.98
R5468:Uroc1	UTSW	6	90,315,586 (GRCm39)	missense	probably benign	0.45
R5592:Uroc1	UTSW	6	90,332,326 (GRCm39)	missense	probably damaging	0.99
R5698:Uroc1	UTSW	6	90,324,302 (GRCm39)	missense	probably damaging	1.00
R5789:Uroc1	UTSW	6	90,321,179 (GRCm39)	missense	probably damaging	1.00
R5853:Uroc1	UTSW	6	90,323,738 (GRCm39)	missense	probably damaging	0.99
R6063:Uroc1	UTSW	6	90,324,910 (GRCm39)	missense	probably benign	0.37
R6883:Uroc1	UTSW	6	90,315,574 (GRCm39)	nonsense	probably null
R7374:Uroc1	UTSW	6	90,315,815 (GRCm39)	missense	probably damaging	1.00
R7394:Uroc1	UTSW	6	90,322,315 (GRCm39)	missense	probably damaging	1.00
R7427:Uroc1	UTSW	6	90,323,344 (GRCm39)	missense	possibly damaging	0.56
R8224:Uroc1	UTSW	6	90,321,049 (GRCm39)	splice site	probably null
R8376:Uroc1	UTSW	6	90,314,697 (GRCm39)	missense	probably damaging	0.99
R8807:Uroc1	UTSW	6	90,328,110 (GRCm39)	missense	probably damaging	1.00
R8857:Uroc1	UTSW	6	90,334,510 (GRCm39)	missense	possibly damaging	0.74
R9418:Uroc1	UTSW	6	90,313,880 (GRCm39)	missense	probably benign	0.00
R9440:Uroc1	UTSW	6	90,322,353 (GRCm39)	missense	possibly damaging	0.94
X0021:Uroc1	UTSW	6	90,321,132 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TATGTACACTGCCCAAGTCTGCCC -3'
(R):5'- AGGTGTCACCTCACTGTACCATCC -3'

Sequencing Primer
(F):5'- aaaaaaaaaaaaaaaaaGGCCAGTGG -3'
(R):5'- CTCACTGTACCATCCCCATAG -3'

Posted On

2013-09-03