Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Uroc1'

713588

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90333284-90364551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90345371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 292 (S292R)

Ref Sequence

ENSEMBL: ENSMUSP00000127114 (fasta)

Gene Model

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

AlphaFold

Q8VC12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046128
AA Change: S292R

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: S292R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164761
AA Change: S292R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: S292R

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: 99.9%
10x: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	A	T	16: 90,929,944	V116E	probably benign	Het
Abca17	G	A	17: 24,280,478	T1359M	probably benign	Het
Acacb	T	A	5: 114,246,024	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,864,628	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,419,244		probably null	Het
Asb4	A	G	6: 5,429,817	I352M	probably benign	Het
Bach1	C	G	16: 87,719,715	S381R	probably benign	Het
BC034090	A	G	1: 155,226,215	L101P	probably benign	Het
Bms1	A	T	6: 118,405,256	D440E	probably benign	Het
Bpifb6	A	T	2: 153,905,994	D191V	probably benign	Het
Cfd	T	C	10: 79,890,982		probably null	Het
Cnot3	G	A	7: 3,653,561	E252K	probably damaging	Het
Col6a3	T	C	1: 90,779,346	D2622G	unknown	Het
Crybg2	T	C	4: 134,074,291	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,636,384	K167R	probably damaging	Het
Gbp3	T	C	3: 142,566,574	V279A	possibly damaging	Het
Gipc2	T	C	3: 152,128,069	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,862,077	V20A		Het
Gm35339	T	C	15: 76,360,864	S1176P		Het
Gorasp2	T	C	2: 70,711,125		probably null	Het
Gpr179	A	G	11: 97,338,489	S947P	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,637,789	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,565,588	V876A	probably benign	Het
Marf1	A	C	16: 14,120,332	D1433E	probably benign	Het
Mcm4	A	T	16: 15,635,311	C171*	probably null	Het
Micall1	C	T	15: 79,126,959	P510S		Het
Morc3	A	G	16: 93,853,087		probably null	Het
Mrpl28	G	T	17: 26,126,292	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,805,430	Y52*	probably null	Het
Mybphl	T	C	3: 108,374,886	I144T	probably benign	Het
Myom1	A	G	17: 71,126,334	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr492	A	G	7: 108,322,830	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451		probably benign	Het
Plxna1	T	C	6: 89,341,930	K637R	probably benign	Het
Prob1	G	T	18: 35,653,165	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,325,069	C255F	probably damaging	Het
Slc17a9	T	C	2: 180,741,297	C399R	probably benign	Het
Smc4	T	A	3: 69,008,122		probably null	Het
St14	A	G	9: 31,096,549	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,596,972	L102*	probably null	Het
Tex15	A	G	8: 33,582,245	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,649,475		probably benign	Het
Trip4	T	C	9: 65,852,952		probably null	Het
Ttf1	A	G	2: 29,065,697	I358V	probably benign	Het
Vmn1r5	T	C	6: 56,985,430	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,564,984	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724	I69V	probably benign	Het
Xirp1	G	A	9: 120,018,137	T560M	probably damaging	Het
Zfp512	A	T	5: 31,471,015	T266S	possibly damaging	Het

Other mutations in Uroc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Uroc1	APN	6	90338828	missense	probably benign
IGL01015:Uroc1	APN	6	90358901	splice site	probably benign
IGL01386:Uroc1	APN	6	90346765	missense	probably damaging	0.99
IGL01449:Uroc1	APN	6	90338653	missense	probably damaging	1.00
IGL01514:Uroc1	APN	6	90363100	splice site	probably benign
IGL02060:Uroc1	APN	6	90338255	missense	probably benign	0.03
IGL02247:Uroc1	APN	6	90347928	missense	probably benign	0.00
IGL02256:Uroc1	APN	6	90346687	missense	possibly damaging	0.83
IGL02886:Uroc1	APN	6	90346829	splice site	probably benign
IGL03087:Uroc1	APN	6	90363103	splice site	probably benign
PIT4651001:Uroc1	UTSW	6	90363113	nonsense	probably null
R0034:Uroc1	UTSW	6	90345310	missense	probably damaging	1.00
R0245:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R0402:Uroc1	UTSW	6	90347302	missense	probably damaging	1.00
R0570:Uroc1	UTSW	6	90338564	missense	possibly damaging	0.90
R0729:Uroc1	UTSW	6	90336955	missense	probably damaging	1.00
R1471:Uroc1	UTSW	6	90344171	missense	probably damaging	1.00
R1782:Uroc1	UTSW	6	90336919	missense	probably damaging	1.00
R1866:Uroc1	UTSW	6	90361524	missense	probably benign	0.03
R1983:Uroc1	UTSW	6	90345369	missense	probably damaging	1.00
R2086:Uroc1	UTSW	6	90344114	missense	probably damaging	1.00
R2321:Uroc1	UTSW	6	90347247	missense	possibly damaging	0.94
R3720:Uroc1	UTSW	6	90346355	missense	probably damaging	1.00
R3874:Uroc1	UTSW	6	90361512	nonsense	probably null
R4628:Uroc1	UTSW	6	90355328	missense	probably damaging	0.99
R4810:Uroc1	UTSW	6	90363153	missense	probably damaging	1.00
R4820:Uroc1	UTSW	6	90357618	critical splice donor site	probably null
R4838:Uroc1	UTSW	6	90349192	missense	possibly damaging	0.90
R4880:Uroc1	UTSW	6	90357537	missense	probably damaging	1.00
R4964:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R4966:Uroc1	UTSW	6	90345394	missense	probably damaging	0.98
R5468:Uroc1	UTSW	6	90338604	missense	probably benign	0.45
R5592:Uroc1	UTSW	6	90355344	missense	probably damaging	0.99
R5698:Uroc1	UTSW	6	90347320	missense	probably damaging	1.00
R5789:Uroc1	UTSW	6	90344197	missense	probably damaging	1.00
R5853:Uroc1	UTSW	6	90346756	missense	probably damaging	0.99
R6063:Uroc1	UTSW	6	90347928	missense	probably benign	0.37
R6883:Uroc1	UTSW	6	90338592	nonsense	probably null
R7374:Uroc1	UTSW	6	90338833	missense	probably damaging	1.00
R7394:Uroc1	UTSW	6	90345333	missense	probably damaging	1.00
R7427:Uroc1	UTSW	6	90346362	missense	possibly damaging	0.56
R8224:Uroc1	UTSW	6	90344067	splice site	probably null
R8376:Uroc1	UTSW	6	90337715	missense	probably damaging	0.99
R8807:Uroc1	UTSW	6	90351128	missense	probably damaging	1.00
R8857:Uroc1	UTSW	6	90357528	missense	possibly damaging	0.74
R9418:Uroc1	UTSW	6	90336898	missense	probably benign	0.00
X0021:Uroc1	UTSW	6	90344150	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GGAAACCATGTCTCAGTAGCC -3'
(R):5'- ATGGGATAGCTAGAGACCCTC -3'

Sequencing Primer
(F):5'- ATTGGTTGTACCGACTGCCCTAAG -3'
(R):5'- GGATAGCTAGAGACCCTCCCATG -3'

Posted On

2022-06-15