Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Uroc1'

164883

Institutional Source

Beutler Lab

Gene Symbol

Uroc1

Ensembl Gene

ENSMUSG00000034456

Gene Name

urocanase domain containing 1

Synonyms

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90333284-90364551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 90344171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 243 (V243G)

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: V243G

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

SMART Domains

Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: V243G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164761
AA Change: V243G

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

SMART Domains

Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: V243G

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: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
4930486L24Rik	C	A	13: 60,853,522	K130N	probably damaging	Het
Adam6a	T	A	12: 113,544,393	S129T	probably damaging	Het
Adamts10	T	A	17: 33,553,138	F1087I	probably damaging	Het
Afp	T	A	5: 90,503,682	N385K	possibly damaging	Het
Ahnak	T	G	19: 9,012,932		probably benign	Het
Akap6	A	G	12: 53,141,496	T1898A	probably benign	Het
Antxr2	C	A	5: 97,975,340	V283F	possibly damaging	Het
Asgr1	T	C	11: 70,056,093	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,516,354	K467E	probably damaging	Het
Atp5a1	C	A	18: 77,781,269	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,786,374	D455E	probably damaging	Het
B4galt6	C	T	18: 20,745,353	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,890,338	E165K	probably benign	Het
Cabin1	A	G	10: 75,694,792	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386	R147*	probably null	Het
Ccdc88b	A	G	19: 6,854,023	L517P	probably benign	Het
Cd109	G	A	9: 78,654,587	V220I	probably damaging	Het
Cd2ap	T	C	17: 42,820,597	K369R	probably benign	Het
Cd300c	A	G	11: 114,959,788	V63A	probably benign	Het
Cnot10	A	G	9: 114,591,551	V741A	probably benign	Het
Col18a1	G	T	10: 77,096,206	Q350K	unknown	Het
Crnkl1	T	C	2: 145,932,316	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,470,721	K227E	probably benign	Het
Cts6	G	A	13: 61,196,380	T286I	probably benign	Het
Cul1	T	C	6: 47,514,886	V392A	probably damaging	Het
Dcaf7	T	A	11: 106,046,747	F65L	probably benign	Het
Dgke	A	C	11: 89,055,494	V160G	possibly damaging	Het
Dock8	C	A	19: 25,201,036	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,399,112	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,658,951	D829G	probably benign	Het
Exosc1	A	T	19: 41,924,718	S117R	probably damaging	Het
Fga	T	C	3: 83,028,618	S51P	probably benign	Het
Fmn1	T	C	2: 113,693,094	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,373,874	L713F	probably damaging	Het
Galnt4	A	G	10: 99,108,674	E87G	probably benign	Het
Gamt	T	C	10: 80,260,858	D15G	probably benign	Het
Gm13101	T	C	4: 143,964,953	N400S	probably benign	Het
Gm15557	C	A	2: 155,942,254	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,445,763	I1211V	probably benign	Het
Greb1	A	T	12: 16,711,774	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,309	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,491,608	I373M	probably benign	Het
Ifi207	T	A	1: 173,730,063	T370S	unknown	Het
Igf1r	A	G	7: 68,003,837	N41S	probably damaging	Het
Ikzf5	A	T	7: 131,391,767	V224D	probably damaging	Het
Il10	C	A	1: 131,021,373	Y90*	probably null	Het
Itga4	A	G	2: 79,287,032	D394G	probably benign	Het
Kif21a	A	T	15: 90,956,419	S1165T	probably benign	Het
Krtap14	A	G	16: 88,825,627	S155P	probably damaging	Het
Loxl2	A	G	14: 69,693,097	N770S	probably benign	Het
Man2b1	A	G	8: 85,086,845	D222G	probably damaging	Het
Mcub	T	A	3: 129,915,815	Y283F	probably damaging	Het
Meis3	T	A	7: 16,177,571	Y64*	probably null	Het
Mfsd6	T	A	1: 52,709,557	I50F	probably benign	Het
Micu2	T	C	14: 57,945,397	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,379,148	E921G	probably damaging	Het
Muc5b	A	T	7: 141,843,234	N215Y	unknown	Het
Muc6	A	G	7: 141,647,909	F772L	possibly damaging	Het
Myt1	A	G	2: 181,797,111	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281	V479I	probably benign	Het
Nsun7	A	G	5: 66,284,229	K414E	probably benign	Het
Nup210l	A	C	3: 90,170,562	I914L	probably benign	Het
Obox3	G	A	7: 15,626,950	P88L	probably benign	Het
Olfr1098	C	T	2: 86,922,578		probably null	Het
Olfr1122	A	G	2: 87,388,518	Y271C	probably damaging	Het
Olfr1132	T	C	2: 87,635,670	T26A	probably benign	Het
Olfr1289	T	C	2: 111,484,006	L192P	probably damaging	Het
Pclo	T	C	5: 14,680,427		probably benign	Het
Pcsk5	T	C	19: 17,568,324	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,151,512	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,817,133	Q1534L	probably benign	Het
Rell1	T	A	5: 63,936,085	D109V	probably damaging	Het
Rplp0	C	T	5: 115,563,344	T285I	probably damaging	Het
Sema3g	C	T	14: 31,228,045	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,753,791	Y536H	probably damaging	Het
Slc26a5	T	A	5: 21,816,964	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,186,528	S566C	probably damaging	Het
Spink7	C	T	18: 62,596,204	E21K	possibly damaging	Het
Src	C	T	2: 157,457,187	Q35*	probably null	Het
Srrm2	T	A	17: 23,820,796	V2234E	probably damaging	Het
Stk36	A	T	1: 74,611,155	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,171	E297A	probably damaging	Het
Terf1	A	G	1: 15,842,970	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,598,290	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,660,496	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,298,111	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,942,641	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,092,071	D152N	probably damaging	Het
Unk	T	C	11: 116,049,409	I196T	probably benign	Het
Usp34	C	A	11: 23,488,862	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,478,473	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,377,883	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp362	T	C	4: 128,787,200	T111A	probably benign	Het
Zfp598	T	C	17: 24,680,072	V615A	probably benign	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
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
R9440:Uroc1	UTSW	6	90345371	missense	possibly damaging	0.94
X0021:Uroc1	UTSW	6	90344150	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TACATTGGTCCCCAGGGAATCGTC -3'
(R):5'- GGTGCAAGCAGGACCCATGTATAG -3'

Sequencing Primer
(F):5'- ATGCTGGGGATGGACAGTTA -3'
(R):5'- aagaaggggagaagaaggaaag -3'

Posted On

2014-03-28