Mutagenetix > Incidental Mutation

Incidental Mutation 'R1782:Uroc1'

195381

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

039813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90310266-90341533 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90313901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 63 (E63K)

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: E63K

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

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: E63K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164761
AA Change: E63K

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

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: E63K

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,971 (GRCm39)	T2573S	probably benign	Het
Adgra3	G	T	5: 50,129,404 (GRCm39)	T738K	probably benign	Het
Adgrl4	C	T	3: 151,248,442 (GRCm39)	Q705*	probably null	Het
Atp2b1	T	G	10: 98,839,063 (GRCm39)	D630E	probably benign	Het
Atp2c1	G	A	9: 105,308,786 (GRCm39)	R577C	probably damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
C8g	T	A	2: 25,389,094 (GRCm39)	D163V	possibly damaging	Het
Catsper1	T	C	19: 5,385,937 (GRCm39)	Y57H	probably benign	Het
Ccdc25	C	T	14: 66,091,597 (GRCm39)	A72V	probably benign	Het
Cdca2	T	G	14: 67,915,260 (GRCm39)	E666D	probably benign	Het
Cdh23	G	A	10: 60,324,321 (GRCm39)	T313I	probably damaging	Het
Cfap57	C	A	4: 118,472,172 (GRCm39)	R69L	probably damaging	Het
Chat	C	A	14: 32,130,944 (GRCm39)	V566L	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Cog1	A	G	11: 113,544,792 (GRCm39)	T325A	probably benign	Het
Cxcl10	A	G	5: 92,495,662 (GRCm39)	*94Q	probably null	Het
Cyp4a12b	T	C	4: 115,291,178 (GRCm39)	Y369H	probably damaging	Het
Dhx33	T	C	11: 70,892,466 (GRCm39)	Y101C	probably damaging	Het
Dock6	A	G	9: 21,723,142 (GRCm39)	M1593T	probably damaging	Het
Dpy19l3	T	C	7: 35,407,580 (GRCm39)	T488A	possibly damaging	Het
Elapor2	A	T	5: 9,471,620 (GRCm39)	K320N	possibly damaging	Het
Fbxw14	A	G	9: 109,107,759 (GRCm39)	I205T	possibly damaging	Het
Fbxw7	T	C	3: 84,811,126 (GRCm39)	F84L	probably benign	Het
Flii	T	C	11: 60,605,462 (GRCm39)	T1212A	probably benign	Het
Fosl1	T	A	19: 5,500,210 (GRCm39)	I43N	probably damaging	Het
Gabrr2	G	A	4: 33,085,593 (GRCm39)	A338T	probably damaging	Het
Gask1b	T	C	3: 79,793,838 (GRCm39)	L102S	possibly damaging	Het
Gatad2b	T	C	3: 90,249,178 (GRCm39)	V72A	probably benign	Het
Gorasp1	G	T	9: 119,761,888 (GRCm39)	N48K	probably damaging	Het
Gramd1b	C	A	9: 40,324,633 (GRCm39)	D139Y	probably damaging	Het
Gtf3c1	A	T	7: 125,266,246 (GRCm39)	V1030E	probably damaging	Het
Havcr2	C	T	11: 46,345,844 (GRCm39)	T6I	unknown	Het
Hgs	A	G	11: 120,369,331 (GRCm39)	E340G	probably damaging	Het
Irx2	A	G	13: 72,779,585 (GRCm39)	T290A	probably benign	Het
Itgb8	T	A	12: 119,155,853 (GRCm39)	I200F	probably damaging	Het
Josd2	A	G	7: 44,120,577 (GRCm39)	I105V	probably damaging	Het
Kcnh7	T	A	2: 62,566,513 (GRCm39)	D806V	probably damaging	Het
Kctd8	A	G	5: 69,498,319 (GRCm39)	V109A	possibly damaging	Het
Kmt2d	T	A	15: 98,755,429 (GRCm39)		probably benign	Het
Krtap2-4	A	T	11: 99,505,353 (GRCm39)	V86E	probably damaging	Het
Lgr6	C	G	1: 134,915,717 (GRCm39)	V344L	probably damaging	Het
Lime1	A	T	2: 181,024,849 (GRCm39)	R168W	possibly damaging	Het
Macroh2a1	A	T	13: 56,222,134 (GRCm39)	M339K	probably damaging	Het
Magel2	C	T	7: 62,030,605 (GRCm39)	Q1170*	probably null	Het
Ndufaf3	A	T	9: 108,443,210 (GRCm39)	I169N	probably damaging	Het
Neb	T	A	2: 52,174,357 (GRCm39)	K1501*	probably null	Het
Nim1k	A	T	13: 120,173,687 (GRCm39)	S402R	probably benign	Het
Nt5dc2	T	G	14: 30,860,158 (GRCm39)	S395R	probably damaging	Het
Oaz2	G	T	9: 65,596,143 (GRCm39)	V132L	probably benign	Het
Or2t45	T	A	11: 58,669,631 (GRCm39)	L226H	probably damaging	Het
Or4l1	A	T	14: 50,166,096 (GRCm39)	W302R	probably benign	Het
Or5b104	T	A	19: 13,072,167 (GRCm39)	I282F	probably damaging	Het
Or7g25	C	T	9: 19,159,877 (GRCm39)	V273I	probably benign	Het
Or8k39	T	C	2: 86,563,026 (GRCm39)	K310R	probably benign	Het
Pfkl	A	G	10: 77,824,554 (GRCm39)	V717A	probably benign	Het
Phf8-ps	T	C	17: 33,286,662 (GRCm39)	I47V	probably benign	Het
Phgdh	C	T	3: 98,228,063 (GRCm39)	V231I	probably damaging	Het
Pkhd1	A	T	1: 20,635,935 (GRCm39)	M465K	probably damaging	Het
Ppp3r1	A	G	11: 17,148,281 (GRCm39)	H163R	probably benign	Het
Prune2	T	A	19: 17,099,537 (GRCm39)	N1680K	probably benign	Het
Puf60	T	A	15: 75,943,724 (GRCm39)	I216L	probably benign	Het
Rev3l	T	A	10: 39,675,881 (GRCm39)	N190K	probably benign	Het
Rp1	G	A	1: 4,419,312 (GRCm39)	S600L	probably benign	Het
Rpl3l	A	G	17: 24,952,430 (GRCm39)	I217V	probably benign	Het
Scly	T	A	1: 91,236,102 (GRCm39)	V194D	probably damaging	Het
Scnn1b	A	G	7: 121,517,184 (GRCm39)	T607A	probably benign	Het
Slc13a3	G	A	2: 165,287,439 (GRCm39)	L172F	probably benign	Het
Sorbs2	A	G	8: 46,258,733 (GRCm39)	Y1090C	probably damaging	Het
Spag17	T	A	3: 99,918,070 (GRCm39)	M351K	probably benign	Het
St14	A	G	9: 31,011,460 (GRCm39)	Y444H	probably damaging	Het
Taf8	C	A	17: 47,809,136 (GRCm39)	A109S	probably benign	Het
Tbc1d30	T	A	10: 121,103,525 (GRCm39)	K502N	probably damaging	Het
Them5	T	C	3: 94,251,796 (GRCm39)	S136P	probably benign	Het
Tmem248	T	A	5: 130,260,769 (GRCm39)	N111K	probably damaging	Het
Tmem74	C	A	15: 43,730,348 (GRCm39)	V232L	probably damaging	Het
Tnip2	A	T	5: 34,657,012 (GRCm39)	H264Q	probably benign	Het
Trim5	A	G	7: 103,915,023 (GRCm39)		probably null	Het
Trim63	A	G	4: 134,050,349 (GRCm39)	Q211R	probably benign	Het
Trrap	T	C	5: 144,759,513 (GRCm39)	V2231A	possibly damaging	Het
Ttn	T	C	2: 76,565,831 (GRCm39)	S28174G	probably benign	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Ush2a	T	C	1: 188,643,382 (GRCm39)	V4248A	probably benign	Het
Usp1	A	G	4: 98,822,435 (GRCm39)	H583R	probably damaging	Het
Usp8	T	A	2: 126,561,971 (GRCm39)	F55Y	probably damaging	Het
Vmn2r13	T	A	5: 109,306,040 (GRCm39)	T513S	probably benign	Het
Wdr73	T	C	7: 80,541,526 (GRCm39)	T339A	probably damaging	Het
Wnt2	T	A	6: 18,008,639 (GRCm39)	N266I	possibly damaging	Het
Wwp2	AGAACT	A	8: 108,233,031 (GRCm39)		probably null	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
R0729:Uroc1	UTSW	6	90,313,937 (GRCm39)	missense	probably damaging	1.00
R1471:Uroc1	UTSW	6	90,321,153 (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

2014-05-23