Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Tyr'

426119

Institutional Source

Beutler Lab

Gene Symbol

Tyr

Ensembl Gene

ENSMUSG00000004651

Gene Name

tyrosinase

Synonyms

skc35, Oca1

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87073979-87142637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87121698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 365 (A365S)

Ref Sequence

ENSEMBL: ENSMUSP00000004770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004770]

AlphaFold

P11344

Predicted Effect

probably damaging
Transcript: ENSMUST00000004770
AA Change: A365S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: A365S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
Pfam:Tyrosinase	170	403	4.8e-45	PFAM
transmembrane domain	474	496	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207164

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Numerous mutations at this locus result in albinism or hypopigmentation. Albinism is associated with reduced number of optic nerve fibers and mutants can have impaired vision. Some alleles are lethal. [provided by MGI curators]

Allele List at MGI

All alleles(120) : Targeted(2) Spontaneous(28) Chemically induced(16) Radiation induced(78)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Piwil2	G	T	14: 70,632,846 (GRCm39)	N575K	probably benign	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Tyr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01568:Tyr	APN	7	87,087,156 (GRCm39)	missense	probably damaging	1.00
IGL01594:Tyr	APN	7	87,133,022 (GRCm39)	splice site	probably benign
IGL02963:Tyr	APN	7	87,133,205 (GRCm39)	missense	probably benign
IGL03356:Tyr	APN	7	87,141,922 (GRCm39)	missense	possibly damaging	0.71
ghost	UTSW	7	87,121,703 (GRCm39)	missense	probably damaging	1.00
pale	UTSW	7	87,087,175 (GRCm39)	missense	probably damaging	1.00
pale_rider	UTSW	7	87,087,231 (GRCm39)	missense	probably damaging	1.00
rufus	UTSW	7	87,141,914 (GRCm39)	missense	probably damaging	1.00
shocked	UTSW	7	87,142,330 (GRCm39)	missense	probably damaging	1.00
siamese	UTSW	7	87,087,252 (GRCm39)	missense	probably damaging	0.99
Venusaur	UTSW	7	87,141,914 (GRCm39)	missense	probably damaging	1.00
waffle	UTSW	7	87,142,429 (GRCm39)	missense	possibly damaging	0.94
R0322:Tyr	UTSW	7	87,142,125 (GRCm39)	missense	probably benign	0.35
R0479:Tyr	UTSW	7	87,142,429 (GRCm39)	missense	possibly damaging	0.94
R1544:Tyr	UTSW	7	87,141,914 (GRCm39)	missense	probably damaging	1.00
R1546:Tyr	UTSW	7	87,087,200 (GRCm39)	missense	probably benign	0.02
R1606:Tyr	UTSW	7	87,087,179 (GRCm39)	missense	probably benign	0.01
R1666:Tyr	UTSW	7	87,142,149 (GRCm39)	missense	probably damaging	1.00
R2064:Tyr	UTSW	7	87,142,051 (GRCm39)	missense	probably benign	0.13
R2213:Tyr	UTSW	7	87,142,086 (GRCm39)	missense	probably damaging	1.00
R2420:Tyr	UTSW	7	87,078,397 (GRCm39)	missense	probably benign	0.17
R4013:Tyr	UTSW	7	87,087,148 (GRCm39)	missense	probably benign	0.00
R4014:Tyr	UTSW	7	87,087,148 (GRCm39)	missense	probably benign	0.00
R4015:Tyr	UTSW	7	87,087,148 (GRCm39)	missense	probably benign	0.00
R4016:Tyr	UTSW	7	87,087,148 (GRCm39)	missense	probably benign	0.00
R4202:Tyr	UTSW	7	87,078,276 (GRCm39)	missense	possibly damaging	0.92
R4205:Tyr	UTSW	7	87,078,276 (GRCm39)	missense	possibly damaging	0.92
R4206:Tyr	UTSW	7	87,078,276 (GRCm39)	missense	possibly damaging	0.92
R4361:Tyr	UTSW	7	87,078,284 (GRCm39)	missense	probably benign	0.01
R4738:Tyr	UTSW	7	87,141,855 (GRCm39)	missense	probably null	1.00
R5306:Tyr	UTSW	7	87,087,222 (GRCm39)	missense	probably damaging	1.00
R5378:Tyr	UTSW	7	87,121,703 (GRCm39)	missense	probably damaging	1.00
R5782:Tyr	UTSW	7	87,142,224 (GRCm39)	missense	probably damaging	1.00
R7007:Tyr	UTSW	7	87,142,548 (GRCm39)	missense	probably benign	0.04
R7609:Tyr	UTSW	7	87,133,092 (GRCm39)	missense	probably benign	0.06
R7767:Tyr	UTSW	7	87,142,218 (GRCm39)	missense	probably benign	0.37
R7794:Tyr	UTSW	7	87,133,028 (GRCm39)	critical splice donor site	probably null
R8158:Tyr	UTSW	7	87,121,724 (GRCm39)	missense	probably damaging	0.99
R8383:Tyr	UTSW	7	87,133,200 (GRCm39)	missense	probably damaging	1.00
R8403:Tyr	UTSW	7	87,087,175 (GRCm39)	missense	probably damaging	1.00
R8544:Tyr	UTSW	7	87,142,000 (GRCm39)	missense	probably benign	0.05
R8822:Tyr	UTSW	7	87,142,330 (GRCm39)	missense	probably damaging	1.00
R8837:Tyr	UTSW	7	87,087,223 (GRCm39)	missense	probably damaging	1.00
R9492:Tyr	UTSW	7	87,121,705 (GRCm39)	missense	possibly damaging	0.63
R9492:Tyr	UTSW	7	87,121,704 (GRCm39)	missense	probably damaging	1.00
R9748:Tyr	UTSW	7	87,142,072 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AGACATGGCTGTATTTGACTCC -3'
(R):5'- CACTGCTTAACCTATCTCACAGTG -3'

Sequencing Primer
(F):5'- GACATGGCTGTATTTGACTCCTAAAC -3'
(R):5'- TTAACCTATCTCACAGTGTACAAAAC -3'

Posted On

2016-08-04