Mutagenetix > Incidental Mutation

Incidental Mutation 'R4820:Uroc1'

370124

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

042436-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4820 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

90310266-90341533 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 90334600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

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

AlphaFold

Q8VC12

Predicted Effect

probably null
Transcript: ENSMUST00000046128

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456

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

Predicted Effect

probably null
Transcript: ENSMUST00000164761

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456

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

0.9488

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

96% (104/108)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,481 (GRCm39)		noncoding transcript	Het
5730455P16Rik	A	T	11: 80,266,346 (GRCm39)	S132T	possibly damaging	Het
Aadacl3	T	A	4: 144,184,527 (GRCm39)	H77L	probably damaging	Het
Actr5	T	A	2: 158,467,426 (GRCm39)	V122D	probably damaging	Het
Adamts7	A	G	9: 90,071,739 (GRCm39)	D678G	possibly damaging	Het
Alpk1	T	A	3: 127,464,708 (GRCm39)	D1190V	probably benign	Het
Apbb1ip	A	T	2: 22,765,265 (GRCm39)	N649Y	unknown	Het
Atp6v0a1	A	G	11: 100,933,776 (GRCm39)	I522V	probably benign	Het
Brd10	T	C	19: 29,695,809 (GRCm39)	N1228S	possibly damaging	Het
Cars1	T	C	7: 143,124,301 (GRCm39)	D375G	probably damaging	Het
Catspere1	A	T	1: 177,687,441 (GRCm39)		noncoding transcript	Het
Ccdc87	A	G	19: 4,890,579 (GRCm39)	D357G	probably damaging	Het
Cd101	A	T	3: 100,929,471 (GRCm39)	S8T	probably benign	Het
Cfap65	C	T	1: 74,966,791 (GRCm39)	A299T	probably benign	Het
Cic	T	C	7: 24,971,157 (GRCm39)	V296A	possibly damaging	Het
Col7a1	T	A	9: 108,797,675 (GRCm39)	S1686T	possibly damaging	Het
Ctbp2	A	C	7: 132,615,423 (GRCm39)	L504R	probably damaging	Het
Cttnbp2nl	T	C	3: 104,918,640 (GRCm39)	K67E	probably benign	Het
Cyp2c50	C	T	19: 40,102,024 (GRCm39)	P480S	probably damaging	Het
Dcdc5	A	C	2: 106,166,420 (GRCm39)		noncoding transcript	Het
Defb2	G	T	8: 22,333,317 (GRCm39)	E31*	probably null	Het
Dhrs1	T	A	14: 55,977,083 (GRCm39)	N244I	possibly damaging	Het
Dop1b	A	G	16: 93,589,978 (GRCm39)	I134V	probably benign	Het
Eif1ad11	A	T	12: 87,994,158 (GRCm39)	I129F	unknown	Het
Etl4	A	G	2: 20,811,496 (GRCm39)	D1193G	possibly damaging	Het
Ezh1	A	C	11: 101,094,594 (GRCm39)	S399R	probably damaging	Het
Fam161a	T	C	11: 22,970,076 (GRCm39)	S26P	probably damaging	Het
Fcgbp	C	A	7: 27,813,383 (GRCm39)	S2306Y	probably damaging	Het
Fras1	T	C	5: 96,876,512 (GRCm39)	I2415T	probably benign	Het
Gas2l3	A	G	10: 89,252,907 (GRCm39)	L246P	probably damaging	Het
Gdf15	C	T	8: 71,082,246 (GRCm39)	V287M	probably damaging	Het
Gm7742	T	C	17: 21,420,235 (GRCm39)		noncoding transcript	Het
Grin2d	T	C	7: 45,507,363 (GRCm39)	D446G	probably damaging	Het
Hemk1	A	G	9: 107,205,385 (GRCm39)	F107L	probably benign	Het
Hmgcr	C	T	13: 96,796,700 (GRCm39)	G197S	probably damaging	Het
Ift52	G	A	2: 162,873,108 (GRCm39)	G207D	probably benign	Het
Il17re	A	G	6: 113,442,816 (GRCm39)	T275A	probably benign	Het
Iqcf3	T	C	9: 106,430,788 (GRCm39)		probably benign	Het
Kcna1	A	G	6: 126,619,099 (GRCm39)	I407T	probably damaging	Het
Kcnrg	T	A	14: 61,845,386 (GRCm39)	M142K	probably benign	Het
Lhx9	C	A	1: 138,766,105 (GRCm39)	V237L	probably benign	Het
Lipo3	A	C	19: 33,560,497 (GRCm39)	I56S	probably damaging	Het
Loxhd1	C	G	18: 77,472,663 (GRCm39)	P1060R	probably damaging	Het
Map2k4	A	C	11: 65,587,201 (GRCm39)		probably benign	Het
Methig1	A	G	15: 100,251,416 (GRCm39)	K109R	possibly damaging	Het
Mmrn1	G	A	6: 60,950,027 (GRCm39)	V326I	probably benign	Het
Myo15a	G	A	11: 60,367,741 (GRCm39)	R167H	probably damaging	Het
Ncoa7	G	A	10: 30,524,472 (GRCm39)	T142M	probably damaging	Het
Nfkb2	C	A	19: 46,296,493 (GRCm39)	Q254K	probably damaging	Het
Nherf1	A	G	11: 115,070,918 (GRCm39)	E290G	probably benign	Het
Nol6	G	T	4: 41,121,508 (GRCm39)	P278Q	probably damaging	Het
Nptxr	T	A	15: 79,677,027 (GRCm39)	D285V	probably damaging	Het
Oosp3	T	C	19: 11,688,997 (GRCm39)	W82R	probably damaging	Het
Or6b3	A	T	1: 92,438,812 (GRCm39)	*313K	probably null	Het
Or6n1	A	G	1: 173,916,742 (GRCm39)	I45M	possibly damaging	Het
Pa2g4	G	T	10: 128,395,199 (GRCm39)	T322K	probably damaging	Het
Parp16	C	A	9: 65,145,175 (GRCm39)	F291L	probably damaging	Het
Pdzd9	A	T	7: 120,267,619 (GRCm39)	D65E	probably damaging	Het
Pgap3	A	G	11: 98,281,300 (GRCm39)	W238R	probably damaging	Het
Pgf	G	A	12: 85,218,538 (GRCm39)	H67Y	probably benign	Het
Pik3cb	T	C	9: 98,955,679 (GRCm39)	T413A	probably benign	Het
Plcxd2	A	T	16: 45,800,700 (GRCm39)	C175S	probably benign	Het
Pou2f1	A	T	1: 165,719,517 (GRCm39)		probably benign	Het
Ppfia1	T	G	7: 144,052,106 (GRCm39)	N846T	probably benign	Het
Ppid	T	A	3: 79,502,504 (GRCm39)		probably null	Het
Prkcq	G	A	2: 11,231,797 (GRCm39)		probably null	Het
Ptgds	T	C	2: 25,359,058 (GRCm39)	K66E	probably benign	Het
Ptpmt1	A	G	2: 90,748,283 (GRCm39)		noncoding transcript	Het
Rab3il1	G	A	19: 10,004,034 (GRCm39)	G51D	probably benign	Het
Rdx	T	C	9: 51,974,891 (GRCm39)	V9A	probably damaging	Het
Rpl7l1	T	C	17: 47,089,014 (GRCm39)	N239S	probably benign	Het
Rrbp1	C	A	2: 143,806,685 (GRCm39)	A978S	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,126 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,291,622 (GRCm39)	I1708N	probably damaging	Het
Serinc1	A	G	10: 57,401,466 (GRCm39)	I109T	possibly damaging	Het
Shroom1	G	A	11: 53,355,966 (GRCm39)	V339I	probably benign	Het
Slc30a8	T	A	15: 52,169,880 (GRCm39)	C36S	probably benign	Het
Slco1b2	A	G	6: 141,631,158 (GRCm39)	I597M	probably benign	Het
Snx27	A	G	3: 94,427,518 (GRCm39)	F228S	probably damaging	Het
Spata31f1a	T	A	4: 42,851,815 (GRCm39)	I114F	probably damaging	Het
Speer4e2	G	T	5: 15,026,225 (GRCm39)	T144K	probably benign	Het
Stim1	T	A	7: 102,064,571 (GRCm39)	F214I	probably damaging	Het
Svep1	T	C	4: 58,082,664 (GRCm39)	T1987A	probably benign	Het
Tamm41	A	G	6: 115,002,378 (GRCm39)	I18T	possibly damaging	Het
Tmem150b	T	A	7: 4,726,871 (GRCm39)	D79V	probably damaging	Het
Tmem167	T	A	13: 90,252,548 (GRCm39)	I68N	probably benign	Het
Traf3	A	G	12: 111,227,204 (GRCm39)	E339G	possibly damaging	Het
Tspan12	G	A	6: 21,795,660 (GRCm39)	P177S	probably damaging	Het
Ttn	A	G	2: 76,783,562 (GRCm39)	I810T	probably benign	Het
Ulk1	T	C	5: 110,939,996 (GRCm39)	T407A	probably benign	Het
Vmn2r-ps69	T	C	7: 84,959,584 (GRCm39)		noncoding transcript	Het
Wdr59	T	C	8: 112,207,446 (GRCm39)	N476S	probably benign	Het
Zfp472	A	G	17: 33,196,416 (GRCm39)	M164V	probably benign	Het
Zfp608	T	C	18: 55,120,756 (GRCm39)	N277S	probably benign	Het
Zfp831	T	C	2: 174,547,097 (GRCm39)	C1427R	possibly 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
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'- CCCATTTTCAAGGTGGGTAAATCC -3'
(R):5'- GCCTCTCTATGTTACCCAGGATG -3'

Sequencing Primer
(F):5'- TCCAAATGATATCTGGAGTGCCC -3'
(R):5'- CCCAGGATGCTACTAATTCTTAAGC -3'

Posted On

2016-02-04