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

045505-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90310266-90341533 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90323344 bp (GRCm39)

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
Adck5	T	A	15: 76,478,585 (GRCm39)	C318S	possibly damaging	Het
Aspm	T	A	1: 139,385,354 (GRCm39)	C333S	probably benign	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Ccn2	T	G	10: 24,473,397 (GRCm39)	M312R	probably damaging	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcl16	A	G	11: 70,349,630 (GRCm39)	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Dnah9	T	C	11: 65,846,045 (GRCm39)	T2998A	probably benign	Het
Focad	T	C	4: 88,286,988 (GRCm39)	S1254P	unknown	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Gpr158	A	C	2: 21,832,129 (GRCm39)	L1076F	probably benign	Het
Hivep2	T	C	10: 14,009,485 (GRCm39)	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,239,554 (GRCm39)	T150K	probably benign	Het
Il6st	A	G	13: 112,625,094 (GRCm39)	I237V	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Kit	G	A	5: 75,806,507 (GRCm39)	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,705 (GRCm39)	N190I	probably damaging	Het
Lad1	C	T	1: 135,753,576 (GRCm39)	T41I	probably damaging	Het
Lrrc7	G	T	3: 157,903,778 (GRCm39)	T294K	probably benign	Het
Megf8	C	T	7: 25,037,796 (GRCm39)	R771C	probably benign	Het
Micu3	A	C	8: 40,831,955 (GRCm39)	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,679,211 (GRCm39)	N291D	unknown	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454 (GRCm39)	D79E	probably benign	Het
Myzap	T	C	9: 71,412,465 (GRCm39)	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,070,860 (GRCm39)	D907G	probably benign	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Omd	A	T	13: 49,745,745 (GRCm39)	E385V	possibly damaging	Het
Or12d15	T	C	17: 37,694,190 (GRCm39)	V244A	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or2av9	A	G	11: 58,380,606 (GRCm39)	I325T	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,125,863 (GRCm39)	D20G	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995 (GRCm39)	N226K	probably damaging	Het
Potegl	C	T	2: 23,147,006 (GRCm39)	R337C	probably benign	Het
Ppp1r10	T	A	17: 36,241,025 (GRCm39)	H642Q	possibly damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Psg23	C	T	7: 18,345,908 (GRCm39)		probably null	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Rhot2	A	T	17: 26,060,583 (GRCm39)	V233E	probably damaging	Het
Ripply2	T	C	9: 86,901,809 (GRCm39)	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,217,080 (GRCm39)	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Srd5a3	A	G	5: 76,302,490 (GRCm39)	H285R	probably benign	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Syne1	T	C	10: 5,223,718 (GRCm39)	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,122,765 (GRCm39)	T27A	probably benign	Het
Tmem150b	A	T	7: 4,719,209 (GRCm39)	V237E	probably benign	Het
Trpv6	C	T	6: 41,602,087 (GRCm39)	M407I	probably benign	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably damaging	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
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
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'- GGCCCACACATTGACATAAGTTC -3'
(R):5'- CACTCTGTAGGCAGTGTCTG -3'

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

Posted On

2019-10-07