Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01594:Tyr'

91696

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tyr

Ensembl Gene

ENSMUSG00000004651

Gene Name

tyrosinase

Synonyms

skc35, Oca1

Accession Numbers

Essential gene?

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

Stock #

IGL01594

Quality Score

Status

Chromosome

Chromosomal Location

87073979-87142637 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 87133022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004770 (fasta)

Gene Model

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

AlphaFold

P11344

Predicted Effect

probably benign
Transcript: ENSMUST00000004770

SMART Domains

Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,996,071 (GRCm39)		probably null	Het
Acss1	A	T	2: 150,463,450 (GRCm39)	V618E	probably damaging	Het
Adgrg6	T	C	10: 14,310,084 (GRCm39)	N774D	probably damaging	Het
Atp9a	A	G	2: 168,532,932 (GRCm39)	V134A	probably damaging	Het
Csmd3	T	A	15: 47,492,635 (GRCm39)	T3169S	probably benign	Het
D030068K23Rik	T	A	8: 109,978,009 (GRCm39)	Q52L	unknown	Het
Dnah5	T	C	15: 28,311,480 (GRCm39)	S1820P	possibly damaging	Het
Fem1c	A	C	18: 46,639,343 (GRCm39)	S220A	probably benign	Het
Gm10305	G	A	4: 99,161,414 (GRCm39)	D108N	unknown	Het
Gtdc1	A	G	2: 44,481,891 (GRCm39)		probably null	Het
Il2ra	T	C	2: 11,685,207 (GRCm39)	V181A	possibly damaging	Het
Lrrn1	T	C	6: 107,544,454 (GRCm39)	I84T	probably damaging	Het
Map3k1	T	A	13: 111,894,723 (GRCm39)		probably null	Het
Mical1	T	G	10: 41,356,325 (GRCm39)	Y293D	probably damaging	Het
Mpzl1	T	C	1: 165,421,161 (GRCm39)	D266G	probably damaging	Het
Or55b4	C	A	7: 102,134,254 (GRCm39)	M24I	probably benign	Het
Pabpc4l	A	T	3: 46,401,581 (GRCm39)	V21D	probably damaging	Het
Prdm10	T	C	9: 31,258,149 (GRCm39)	C525R	probably damaging	Het
Ptprj	C	A	2: 90,271,139 (GRCm39)		probably benign	Het
Rgs3	T	C	4: 62,537,981 (GRCm39)	F4S	probably damaging	Het
Ryr3	G	A	2: 112,603,073 (GRCm39)	T2457I	probably damaging	Het
Scn3a	A	G	2: 65,291,775 (GRCm39)	I1657T	probably damaging	Het
Sema6a	A	G	18: 47,381,884 (GRCm39)	S888P	probably damaging	Het
Slc37a1	T	A	17: 31,538,122 (GRCm39)	Y148*	probably null	Het
Tex10	T	C	4: 48,469,906 (GRCm39)	N53S	possibly damaging	Het
Vmn2r100	A	G	17: 19,751,495 (GRCm39)	S513G	possibly 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
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
R5395:Tyr	UTSW	7	87,121,698 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2013-12-09