Incidental Mutation 'IGL01620:Tyrp1'
ID 92552
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyrp1
Ensembl Gene ENSMUSG00000005994
Gene Name tyrosinase-related protein 1
Synonyms Oca3, isa, TRP-1, Tyrp, TRP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL01620
Quality Score
Status
Chromosome 4
Chromosomal Location 80752360-80769956 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 80763039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 309 (G309*)
Ref Sequence ENSEMBL: ENSMUSP00000099895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133932]
AlphaFold P07147
Predicted Effect probably null
Transcript: ENSMUST00000006151
AA Change: G309*
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: G309*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 417 1.7e-37 PFAM
transmembrane domain 479 501 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102831
AA Change: G309*
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: G309*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 417 4.9e-38 PFAM
transmembrane domain 479 501 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133932
SMART Domains Protein: ENSMUSP00000119167
Gene: ENSMUSG00000005994

DomainStartEndE-ValueType
Pfam:Tyrosinase 1 51 1e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
PHENOTYPE: The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Eloc T A 1: 16,713,502 (GRCm39) probably benign Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Hsd11b2 A G 8: 106,249,529 (GRCm39) K266R probably benign Het
Iqck A T 7: 118,476,901 (GRCm39) K154M probably damaging Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pask A T 1: 93,237,844 (GRCm39) H1374Q possibly damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rab3gap2 A G 1: 184,936,523 (GRCm39) T29A probably benign Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Tyrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Tyrp1 APN 4 80,759,002 (GRCm39) missense possibly damaging 0.95
IGL01586:Tyrp1 APN 4 80,763,135 (GRCm39) missense probably benign 0.00
IGL02126:Tyrp1 APN 4 80,755,845 (GRCm39) nonsense probably null
IGL02174:Tyrp1 APN 4 80,763,063 (GRCm39) nonsense probably null
IGL02601:Tyrp1 APN 4 80,759,012 (GRCm39) missense probably null 0.00
IGL02630:Tyrp1 APN 4 80,758,994 (GRCm39) missense possibly damaging 0.95
Browncoat UTSW 4 80,753,399 (GRCm39) missense probably damaging 1.00
butter UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
ca-los UTSW 4 80,763,105 (GRCm39) nonsense probably null
chi UTSW 4 80,759,015 (GRCm39) missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80,759,030 (GRCm39) missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80,759,030 (GRCm39) missense probably damaging 1.00
R0145:Tyrp1 UTSW 4 80,759,015 (GRCm39) missense probably damaging 1.00
R1172:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1173:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1175:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1886:Tyrp1 UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
R2099:Tyrp1 UTSW 4 80,753,616 (GRCm39) missense possibly damaging 0.69
R2273:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2274:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2275:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2312:Tyrp1 UTSW 4 80,755,801 (GRCm39) nonsense probably null
R2427:Tyrp1 UTSW 4 80,769,108 (GRCm39) missense probably benign 0.00
R2440:Tyrp1 UTSW 4 80,764,843 (GRCm39) missense probably benign 0.41
R2915:Tyrp1 UTSW 4 80,755,692 (GRCm39) missense possibly damaging 0.46
R4343:Tyrp1 UTSW 4 80,768,078 (GRCm39) missense possibly damaging 0.92
R4512:Tyrp1 UTSW 4 80,755,749 (GRCm39) missense probably damaging 1.00
R4703:Tyrp1 UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
R4732:Tyrp1 UTSW 4 80,763,172 (GRCm39) missense possibly damaging 0.67
R4733:Tyrp1 UTSW 4 80,763,172 (GRCm39) missense possibly damaging 0.67
R4788:Tyrp1 UTSW 4 80,763,180 (GRCm39) nonsense probably null
R4834:Tyrp1 UTSW 4 80,764,833 (GRCm39) nonsense probably null
R4911:Tyrp1 UTSW 4 80,769,144 (GRCm39) utr 3 prime probably benign
R4938:Tyrp1 UTSW 4 80,758,883 (GRCm39) missense probably damaging 1.00
R5129:Tyrp1 UTSW 4 80,764,844 (GRCm39) missense probably damaging 1.00
R5154:Tyrp1 UTSW 4 80,768,954 (GRCm39) missense probably benign 0.00
R6249:Tyrp1 UTSW 4 80,769,009 (GRCm39) missense possibly damaging 0.93
R6492:Tyrp1 UTSW 4 80,759,018 (GRCm39) missense probably null 1.00
R6617:Tyrp1 UTSW 4 80,764,984 (GRCm39) missense probably benign 0.24
R6870:Tyrp1 UTSW 4 80,769,014 (GRCm39) missense probably benign 0.37
R6990:Tyrp1 UTSW 4 80,753,674 (GRCm39) missense probably damaging 1.00
R7275:Tyrp1 UTSW 4 80,755,821 (GRCm39) missense possibly damaging 0.78
R7684:Tyrp1 UTSW 4 80,758,862 (GRCm39) missense probably damaging 1.00
R7980:Tyrp1 UTSW 4 80,758,864 (GRCm39) missense probably damaging 1.00
R8001:Tyrp1 UTSW 4 80,758,907 (GRCm39) missense probably benign 0.10
R8051:Tyrp1 UTSW 4 80,755,897 (GRCm39) missense probably damaging 1.00
R8233:Tyrp1 UTSW 4 80,769,190 (GRCm39) missense unknown
R8326:Tyrp1 UTSW 4 80,768,921 (GRCm39) missense probably benign 0.06
R8831:Tyrp1 UTSW 4 80,753,399 (GRCm39) missense probably damaging 1.00
R8907:Tyrp1 UTSW 4 80,755,798 (GRCm39) missense probably damaging 1.00
R8998:Tyrp1 UTSW 4 80,763,094 (GRCm39) missense probably damaging 1.00
R8999:Tyrp1 UTSW 4 80,763,094 (GRCm39) missense probably damaging 1.00
R9732:Tyrp1 UTSW 4 80,758,930 (GRCm39) missense possibly damaging 0.52
R9751:Tyrp1 UTSW 4 80,759,012 (GRCm39) missense probably null 0.00
Z1176:Tyrp1 UTSW 4 80,763,126 (GRCm39) nonsense probably null
Z1177:Tyrp1 UTSW 4 80,768,054 (GRCm39) missense probably benign
Posted On 2013-12-09