|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.311)|
|Stock #||R4205 (G1)|
|Chromosomal Location||87424771-87493512 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 87429068 bp|
|Amino Acid Change||Leucine to Proline at position 528 (L528P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004770 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004770]|
|Predicted Effect||possibly damaging
AA Change: L528P
PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: L528P
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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|
|Other mutations in this stock||
|Other mutations in Tyr||
(F):5'- TCCCAGTCATTTCTTAGAAACTAGG -3'
(R):5'- TGGTGATATCTGTGAAAACAGCTTG -3'
(F):5'- CCAACAAATAGGTCGAGTG -3'
(R):5'- CTGTGAAAACAGCTTGATCTCTTTC -3'