Mutagenetix > Incidental Mutation

Incidental Mutation 'R5782:Tyr'

447800

Institutional Source

Beutler Lab

Gene Symbol

Tyr

Ensembl Gene

ENSMUSG00000004651

Gene Name

tyrosinase

Synonyms

skc35, Oca1

MMRRC Submission

043379-MU

Accession Numbers

Essential gene?

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

Stock #

R5782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87073979-87142637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87142224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 112 (C112Y)

Ref Sequence

ENSEMBL: ENSMUSP00000004770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004770] [ENSMUST00000207834]

AlphaFold

P11344

Predicted Effect

probably damaging
Transcript: ENSMUST00000004770
AA Change: C112Y

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

SMART Domains

Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: C112Y

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207834

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,735 (GRCm39)	Q265L	probably benign	Het
Adamtsl3	T	A	7: 82,189,494 (GRCm39)		probably null	Het
Agt	A	T	8: 125,283,870 (GRCm39)		probably null	Het
Ankrd11	A	G	8: 123,626,756 (GRCm39)	L142P	probably damaging	Het
Arhgef19	C	A	4: 140,983,623 (GRCm39)	Q719K	probably damaging	Het
Armh3	A	G	19: 45,874,466 (GRCm39)	V569A	probably benign	Het
Atrnl1	G	T	19: 57,741,718 (GRCm39)	W1159L	possibly damaging	Het
Atxn2	T	C	5: 121,935,373 (GRCm39)	Y325H	probably damaging	Het
Brwd1	A	T	16: 95,844,243 (GRCm39)	Y770*	probably null	Het
Cdc20	T	C	4: 118,290,239 (GRCm39)	E474G	probably benign	Het
Cdk5rap3	A	G	11: 96,802,412 (GRCm39)	L254P	probably benign	Het
Cep83	A	T	10: 94,584,894 (GRCm39)	N333I	probably damaging	Het
Cox4i2	A	C	2: 152,606,731 (GRCm39)	D150A	probably damaging	Het
Cse1l	A	G	2: 166,770,921 (GRCm39)	I314M	probably damaging	Het
Cuedc1	A	G	11: 88,060,858 (GRCm39)	Y67C	probably damaging	Het
Cyp2j9	C	T	4: 96,462,142 (GRCm39)	V380I	probably benign	Het
Fancd2	A	G	6: 113,525,833 (GRCm39)	N302S	probably benign	Het
Foxa1	T	A	12: 57,589,302 (GRCm39)	H306L	probably benign	Het
Gse1	T	C	8: 121,293,260 (GRCm39)	S204P	probably damaging	Het
Hspa13	C	A	16: 75,554,985 (GRCm39)	R367L	probably damaging	Het
Kcnk2	T	G	1: 188,988,776 (GRCm39)	D267A	probably damaging	Het
Kctd18	A	G	1: 57,998,396 (GRCm39)	Y68H	probably damaging	Het
Khdc4	T	G	3: 88,618,985 (GRCm39)	V563G	probably damaging	Het
Klf7	C	T	1: 64,081,570 (GRCm39)	E253K	possibly damaging	Het
Lcn12	A	T	2: 25,383,769 (GRCm39)	F34I	probably damaging	Het
Lrrk2	A	T	15: 91,586,386 (GRCm39)	R401W	probably damaging	Het
Lzts1	A	T	8: 69,593,350 (GRCm39)	S86T	probably benign	Het
Mtres1	T	C	10: 43,408,899 (GRCm39)	I81M	probably benign	Het
Mtus1	T	A	8: 41,535,764 (GRCm39)	I651F	probably damaging	Het
Myl2	T	A	5: 122,242,933 (GRCm39)	F106L	probably damaging	Het
Neb	T	A	2: 52,154,059 (GRCm39)	K2351*	probably null	Het
Or14c45	T	A	7: 86,176,421 (GRCm39)	I152N	probably damaging	Het
Or52e5	T	C	7: 104,718,956 (GRCm39)	I94T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Parg	A	T	14: 31,996,862 (GRCm39)	R318*	probably null	Het
Pcdhga3	C	T	18: 37,809,353 (GRCm39)	S602F	possibly damaging	Het
Pcnx2	A	G	8: 126,480,223 (GRCm39)	V2028A	probably damaging	Het
Pkhd1	T	C	1: 20,128,824 (GRCm39)	T3960A	probably benign	Het
Psen1	T	A	12: 83,759,233 (GRCm39)	H81Q	possibly damaging	Het
Psma6	A	G	12: 55,457,041 (GRCm39)	N109S	possibly damaging	Het
Ptpro	A	T	6: 137,376,496 (GRCm39)	I659F	possibly damaging	Het
Rap1gds1	C	G	3: 138,664,840 (GRCm39)	E288D	possibly damaging	Het
Reln	C	T	5: 22,223,054 (GRCm39)	R993K	probably benign	Het
Saxo1	T	A	4: 86,364,044 (GRCm39)	L146F	probably damaging	Het
Six4	A	G	12: 73,150,832 (GRCm39)	V571A	probably benign	Het
Slc2a10	C	A	2: 165,356,758 (GRCm39)	Y139*	probably null	Het
Slc34a1	A	G	13: 55,550,501 (GRCm39)	I66V	possibly damaging	Het
Slfn8	G	T	11: 82,907,867 (GRCm39)	N46K	probably damaging	Het
Smc6	G	C	12: 11,340,835 (GRCm39)	A496P	probably damaging	Het
Stk31	T	G	6: 49,446,070 (GRCm39)	N902K	probably benign	Het
Stk36	T	A	1: 74,644,584 (GRCm39)	Y114N	possibly damaging	Het
Sult2b1	C	T	7: 45,380,770 (GRCm39)	V271M	probably damaging	Het
Tenm4	A	G	7: 96,542,246 (GRCm39)	I1920V	probably benign	Het
Trbc2	A	G	6: 41,523,871 (GRCm39)		probably benign	Het
Trpc2	A	G	7: 101,733,186 (GRCm39)	D419G	possibly damaging	Het
Trpm7	T	C	2: 126,639,634 (GRCm39)	N1654S	probably benign	Het
Tsku	A	T	7: 98,002,057 (GRCm39)	D91E	probably damaging	Het
Ttn	T	A	2: 76,606,355 (GRCm39)	R18151S	probably damaging	Het
Ubash3a	G	A	17: 31,454,477 (GRCm39)	G435S	probably benign	Het
Vav1	T	C	17: 57,603,001 (GRCm39)	I51T	probably damaging	Het
Vmn2r61	T	A	7: 41,949,253 (GRCm39)	C558S	probably damaging	Het
Zan	C	T	5: 137,418,269 (GRCm39)	C2943Y	unknown	Het
Zfp1002	T	C	2: 150,097,438 (GRCm39)	E25G	probably benign	Het
Zfp267	T	C	3: 36,219,128 (GRCm39)	S384P	possibly damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp575	C	A	7: 24,285,027 (GRCm39)	G205C	possibly damaging	Het
Zfp740	G	T	15: 102,116,801 (GRCm39)		probably benign	Het
Zzz3	A	G	3: 152,133,737 (GRCm39)	E265G	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
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
R5395:Tyr	UTSW	7	87,121,698 (GRCm39)	missense	probably damaging	0.98
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'- GTAATGCATCCATACAAAGAGGTC -3'
(R):5'- AGCTTTCAGGCAGAGGTTCC -3'

Sequencing Primer
(F):5'- TCCATACAAAGAGGTCGTAGATGTTG -3'
(R):5'- GAGGTTCCTGCCAGGATATCCTTC -3'

Posted On

2016-12-15