Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Tyr'

716998

Institutional Source

Beutler Lab

Gene Symbol

Tyr

Ensembl Gene

ENSMUSG00000004651

Gene Name

tyrosinase

Synonyms

skc35, Oca1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87073979-87142637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 87121705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 362 (M362I)

Ref Sequence

ENSEMBL: ENSMUSP00000004770 (fasta)

Gene Model

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

AlphaFold

P11344

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004770
AA Change: M362I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: M362I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Aoc1l1	T	C	6: 48,955,540 (GRCm39)	S717P	probably benign	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	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
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	87,121,704 (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'- GTCACATTTGAAACACACGTTG -3'
(R):5'- AAGAGGTCCATATTGGCCCAG -3'

Sequencing Primer
(F):5'- ACATTTGAAACACACGTTGATAATAC -3'
(R):5'- ACTGCTTAACCTATCTCACAGTG -3'

Posted On

2022-07-18