Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Uroc1'

672132

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

068643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8807 (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 90328110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 529 (I529F)

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: I495F

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

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: I495F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164761
AA Change: I529F

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

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: I529F

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	C	5: 48,534,494 (GRCm39)	I118T	probably damaging	Het
Abca8a	A	T	11: 109,974,252 (GRCm39)	F227L	probably benign	Het
Abcc6	A	T	7: 45,648,431 (GRCm39)	I687N	possibly damaging	Het
Akain1	T	C	17: 69,794,340 (GRCm39)	*70Q	probably null	Het
Allc	C	T	12: 28,615,489 (GRCm39)	G89S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,188 (GRCm39)	F399L	probably benign	Het
Artn	A	T	4: 117,783,915 (GRCm39)	S184T	possibly damaging	Het
B3galt9	A	T	2: 34,728,818 (GRCm39)	I206F	probably damaging	Het
Bcl2a1c	A	T	9: 114,159,248 (GRCm39)	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,472,452 (GRCm39)	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,708,303 (GRCm39)	E98K	probably benign	Het
Cdcp3	A	T	7: 130,846,507 (GRCm39)	I644F	probably damaging	Het
Cdr2l	A	T	11: 115,284,741 (GRCm39)	Q359L	probably damaging	Het
Cmip	C	T	8: 118,138,094 (GRCm39)	T103M	probably benign	Het
Dcaf1	A	G	9: 106,742,268 (GRCm39)	T1358A	probably benign	Het
Dedd2	C	T	7: 24,910,705 (GRCm39)	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,982,499 (GRCm39)	V9A	probably damaging	Het
Dop1b	T	A	16: 93,558,973 (GRCm39)	V573E	probably benign	Het
Eef2k	A	T	7: 120,490,930 (GRCm39)	I517F	possibly damaging	Het
En1	T	C	1: 120,531,090 (GRCm39)	F110S	possibly damaging	Het
Evpl	T	A	11: 116,111,853 (GRCm39)	I1946F	probably damaging	Het
Gaa	A	T	11: 119,168,393 (GRCm39)	M502L	probably benign	Het
Gfer	C	T	17: 24,914,846 (GRCm39)	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,673,213 (GRCm39)	T37A	probably benign	Het
Grm3	C	T	5: 9,561,499 (GRCm39)	A784T	probably damaging	Het
H3c8	A	G	13: 23,719,628 (GRCm39)	K5E	probably benign	Het
Helz	C	G	11: 107,493,835 (GRCm39)	S277C	probably damaging	Het
Henmt1	T	G	3: 108,867,652 (GRCm39)	*396G	probably null	Het
Hfe	C	T	13: 23,889,667 (GRCm39)	V327I	probably benign	Het
Hoxd8	A	T	2: 74,536,313 (GRCm39)	Q141L	probably damaging	Het
Hspa12b	T	G	2: 130,987,103 (GRCm39)	S675A	probably benign	Het
Ifi214	G	A	1: 173,354,133 (GRCm39)	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,625,404 (GRCm39)	Y113F	possibly damaging	Het
Lca5l	T	A	16: 95,979,808 (GRCm39)	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,770,843 (GRCm39)	P257S	probably benign	Het
Loxhd1	C	T	18: 77,444,468 (GRCm39)	T608I	possibly damaging	Het
Lpl	C	A	8: 69,345,280 (GRCm39)	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,473,732 (GRCm39)	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,438,056 (GRCm39)	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,697,706 (GRCm39)		probably benign	Het
Mpo	T	C	11: 87,687,165 (GRCm39)	I237T	probably benign	Het
Mrpl41	A	G	2: 24,864,878 (GRCm39)	W6R	unknown	Het
Muc16	T	A	9: 18,567,353 (GRCm39)	H1722L	unknown	Het
Mug1	A	C	6: 121,851,434 (GRCm39)	D777A	probably benign	Het
Myh1	A	T	11: 67,111,354 (GRCm39)	I1598F	probably benign	Het
Myo1f	C	T	17: 33,794,879 (GRCm39)	R40C	probably damaging	Het
Myo6	G	A	9: 80,207,949 (GRCm39)		probably null	Het
Nbeal2	G	T	9: 110,458,707 (GRCm39)	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,211,282 (GRCm39)	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,167,990 (GRCm39)	L89Q	probably damaging	Het
Nup205	T	C	6: 35,160,904 (GRCm39)	F103S	probably damaging	Het
Obscn	C	A	11: 58,970,470 (GRCm39)	V2379F	probably damaging	Het
Or5m8	A	T	2: 85,823,172 (GRCm39)	*337L	probably null	Het
Or5p62	A	T	7: 107,771,852 (GRCm39)	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,517,584 (GRCm39)	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,213,229 (GRCm39)	D6N	probably damaging	Het
Rsph1	T	A	17: 31,484,828 (GRCm39)	H154L	probably damaging	Het
Sdk1	G	A	5: 142,071,382 (GRCm39)	V1191M	probably damaging	Het
Selenos	T	A	7: 65,729,467 (GRCm39)	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,868 (GRCm39)	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,469,930 (GRCm39)	S144P	probably damaging	Het
Sh3d19	T	C	3: 85,992,659 (GRCm39)	V229A	probably benign	Het
Sin3b	C	T	8: 73,476,708 (GRCm39)	A714V	probably benign	Het
Slitrk6	T	A	14: 110,988,123 (GRCm39)	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,535,932 (GRCm39)	L4063H	probably damaging	Het
Stard9	A	C	2: 120,535,943 (GRCm39)	K4067Q	probably damaging	Het
Terb1	A	G	8: 105,195,741 (GRCm39)		probably null	Het
Tex2	T	A	11: 106,435,194 (GRCm39)	H744L	unknown	Het
Tex2	T	C	11: 106,458,414 (GRCm39)	S339G	unknown	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trhr	A	T	15: 44,061,212 (GRCm39)	N244I	probably benign	Het
Ttn	G	A	2: 76,582,409 (GRCm39)	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,833,601 (GRCm39)		probably benign	Het
Vps13c	G	T	9: 67,766,122 (GRCm39)	V80F	probably damaging	Het
Wnt1	T	A	15: 98,690,645 (GRCm39)	C325S	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
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
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'- GCACTCATTCTCAGGATCAGG -3'
(R):5'- TGCTGCTGTCAACAGTCACAC -3'

Sequencing Primer
(F):5'- TCATTCTCAGGATCAGGGAGGC -3'
(R):5'- CAACACAGTGCATCCCTCAGG -3'

Posted On

2021-04-30