Mutagenetix > Incidental Mutation

Incidental Mutation 'R9748:Tyr'

732321

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: 0.148) question?

Stock #

R9748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87073979-87142637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87142072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 163 (S163P)

Ref Sequence

ENSEMBL: ENSMUSP00000004770 (fasta)

Gene Model

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

AlphaFold

P11344

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004770
AA Change: S163P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: S163P

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

probably damaging
Transcript: ENSMUST00000207834
AA Change: S86P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.4%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,301,068 (GRCm39)	T221A	probably benign	Het
Adamts12	G	A	15: 11,310,628 (GRCm39)	V962I	probably damaging	Het
Ano3	T	A	2: 110,488,640 (GRCm39)	I931F	probably damaging	Het
Anxa2r2	T	A	13: 120,488,200 (GRCm39)	E116D	possibly damaging	Het
Arih1	T	G	9: 59,300,581 (GRCm39)	D555A	possibly damaging	Het
Arsg	A	G	11: 109,381,452 (GRCm39)	D65G	probably damaging	Het
Atp8b3	G	A	10: 80,364,407 (GRCm39)	T567I	probably damaging	Het
Camkk2	G	C	5: 122,872,182 (GRCm39)	R575G	probably benign	Het
Ccdc168	G	T	1: 44,095,824 (GRCm39)	S1758Y	possibly damaging	Het
Ccdc88b	G	T	19: 6,831,461 (GRCm39)	L494M	probably damaging	Het
Cdc7	A	G	5: 107,123,405 (GRCm39)	K317E	possibly damaging	Het
Cfh	A	G	1: 140,090,687 (GRCm39)		probably null	Het
Cp	T	G	3: 20,043,335 (GRCm39)	V1041G	possibly damaging	Het
Cpeb3	A	G	19: 37,151,926 (GRCm39)	V150A	probably benign	Het
Cyp7a1	T	A	4: 6,269,216 (GRCm39)	E352V	probably damaging	Het
Dnah9	T	A	11: 65,976,290 (GRCm39)	H1253L	possibly damaging	Het
Dsg3	T	C	18: 20,672,761 (GRCm39)	S811P	possibly damaging	Het
Efcab5	A	T	11: 77,007,022 (GRCm39)	Y867*	probably null	Het
Eif2ak1	A	G	5: 143,819,031 (GRCm39)	T231A	probably damaging	Het
Eif2ak4	T	A	2: 118,247,730 (GRCm39)	C256S	probably benign	Het
Eif5b	A	G	1: 38,090,241 (GRCm39)	N1140S	possibly damaging	Het
Etnppl	A	T	3: 130,414,002 (GRCm39)	M34L	probably benign	Het
Fcrl5	T	G	3: 87,364,469 (GRCm39)	C549W	possibly damaging	Het
Fhod1	G	A	8: 106,058,323 (GRCm39)	A811V	probably damaging	Het
Flcn	C	T	11: 59,692,980 (GRCm39)	S198N	probably benign	Het
Fndc1	T	A	17: 7,991,929 (GRCm39)	H589L	unknown	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Hcn4	C	T	9: 58,730,996 (GRCm39)	R68W	unknown	Het
Igfn1	A	G	1: 135,926,336 (GRCm39)	L38P	possibly damaging	Het
Il1r1	A	G	1: 40,349,496 (GRCm39)	T351A	probably benign	Het
Ildr2	T	C	1: 166,096,889 (GRCm39)	L36P	probably damaging	Het
Itgb1bp1	C	T	12: 21,324,876 (GRCm39)	C60Y	probably damaging	Het
Jrk	A	G	15: 74,579,225 (GRCm39)	L20P	probably damaging	Het
Kif5c	C	T	2: 49,584,859 (GRCm39)	A194V	probably damaging	Het
Lrp4	C	T	2: 91,316,116 (GRCm39)	L745F	probably damaging	Het
Ly9	A	T	1: 171,428,722 (GRCm39)	D299E	possibly damaging	Het
Mfsd1	C	T	3: 67,499,910 (GRCm39)	T185I	possibly damaging	Het
Mprip	A	G	11: 59,656,348 (GRCm39)	Y808C	probably damaging	Het
Mrps2	C	A	2: 28,359,594 (GRCm39)	H150Q	possibly damaging	Het
Mtcl3	A	T	10: 29,024,398 (GRCm39)	D438V	probably damaging	Het
Mturn	A	T	6: 54,665,989 (GRCm39)		probably null	Het
Myo5a	T	C	9: 75,091,965 (GRCm39)	S1205P	probably damaging	Het
Nckap5	G	A	1: 125,953,939 (GRCm39)	P871L	probably damaging	Het
Ndst3	T	A	3: 123,421,631 (GRCm39)	I401F	probably benign	Het
Nek4	G	A	14: 30,709,114 (GRCm39)	V723M	possibly damaging	Het
Nfe2l2	A	G	2: 75,506,667 (GRCm39)	S478P	probably damaging	Het
Nol6	T	C	4: 41,123,538 (GRCm39)	Y70C	probably damaging	Het
Nup88	T	C	11: 70,860,497 (GRCm39)	E94G	probably benign	Het
Oas1h	A	T	5: 121,005,088 (GRCm39)	N179Y	probably damaging	Het
Or1o11	T	G	17: 37,756,595 (GRCm39)	V61G	probably benign	Het
Or8b39	T	A	9: 37,996,353 (GRCm39)	S74T	probably benign	Het
Otof	T	C	5: 30,540,998 (GRCm39)	D847G	probably damaging	Het
Pak1	C	A	7: 97,547,842 (GRCm39)	D331E	possibly damaging	Het
Pkd1l3	T	C	8: 110,373,555 (GRCm39)	W1374R	probably benign	Het
Pkdrej	G	T	15: 85,704,871 (GRCm39)	T355K	possibly damaging	Het
Pramel27	A	G	4: 143,579,892 (GRCm39)	*492W	probably null	Het
Prkcd	A	T	14: 30,320,800 (GRCm39)	F607I	possibly damaging	Het
Prrc2c	A	G	1: 162,535,435 (GRCm39)	S775P	unknown	Het
Prss16	G	T	13: 22,192,504 (GRCm39)	H154N	possibly damaging	Het
Psme2b	T	C	11: 48,836,779 (GRCm39)	D56G	possibly damaging	Het
Rapsn	C	T	2: 90,875,823 (GRCm39)	P400L	probably damaging	Het
Rptn	A	G	3: 93,304,761 (GRCm39)	D698G	possibly damaging	Het
Rragc	T	C	4: 123,818,658 (GRCm39)	V291A	possibly damaging	Het
Rras2	A	G	7: 113,716,629 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scyl2	A	C	10: 89,476,794 (GRCm39)	M777R	probably benign	Het
Serhl	G	T	15: 82,998,597 (GRCm39)	V235L	probably benign	Het
Sh2b3	T	C	5: 121,955,874 (GRCm39)	Y536C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,257,093 (GRCm39)	M570V	probably benign	Het
Slamf8	C	T	1: 172,411,800 (GRCm39)	V232M	probably benign	Het
Slc6a21	T	A	7: 44,929,941 (GRCm39)	L143Q	probably damaging	Het
Snx9	T	A	17: 5,949,670 (GRCm39)	D123E	probably benign	Het
Spopfm2	G	A	3: 94,083,155 (GRCm39)	H219Y	probably damaging	Het
Supt6	C	A	11: 78,108,767 (GRCm39)	R1178L	probably damaging	Het
Sycp2	T	G	2: 178,025,304 (GRCm39)	E379D	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tg	A	G	15: 66,719,008 (GRCm39)	M2655V	possibly damaging	Het
Tiam2	C	T	17: 3,561,440 (GRCm39)	T1335I	probably benign	Het
Tmem154	T	A	3: 84,573,693 (GRCm39)	L12Q	possibly damaging	Het
Trpv3	A	T	11: 73,174,499 (GRCm39)	I289F	possibly damaging	Het
Tubgcp3	A	G	8: 12,699,758 (GRCm39)	L365P	probably damaging	Het
Tulp4	T	C	17: 6,291,480 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,713,533 (GRCm39)		probably null	Het
Vmn2r94	A	G	17: 18,463,989 (GRCm39)	M767T	probably benign	Het
Wasl	A	G	6: 24,619,533 (GRCm39)	V329A	unknown	Het
Wdr62	T	A	7: 29,953,466 (GRCm39)	M635L	possibly damaging	Het
Wee1	G	T	7: 109,721,722 (GRCm39)	E56*	probably null	Het
Zc3h12c	C	T	9: 52,055,231 (GRCm39)	G193S	probably damaging	Het
Zfp236	T	A	18: 82,637,008 (GRCm39)	Q1426L	possibly damaging	Het
Zfp74	T	C	7: 29,634,751 (GRCm39)	Y319C	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
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

Predicted Primers

PCR Primer
(F):5'- CAGTGAAGTTCTCATCCCCAG -3'
(R):5'- TCATGGGTTTCAACTGCGG -3'

Sequencing Primer
(F):5'- GTGAAGTTCTCATCCCCAGTTAGTTC -3'
(R):5'- GTTTCAACTGCGGAAACTGTAAG -3'

Posted On

2022-11-14