Incidental Mutation 'IGL02174:Tyrp1'
ID283049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tyrp1
Ensembl Gene ENSMUSG00000005994
Gene Nametyrosinase-related protein 1
SynonymsTyrp, isa, Oca3, TRP1, TRP-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL02174
Quality Score
Status
Chromosome4
Chromosomal Location80834123-80851719 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 80844826 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 317 (G317*)
Ref Sequence ENSEMBL: ENSMUSP00000099895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133932]
Predicted Effect probably null
Transcript: ENSMUST00000006151
AA Change: G317*
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: G317*

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: G317*
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: G317*

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,500,742 I1199V probably damaging Het
Adgrv1 G A 13: 81,427,664 T4861I probably benign Het
Ampd2 T C 3: 108,080,285 D108G probably damaging Het
Azin1 A G 15: 38,493,486 F298L probably benign Het
Bag1 T A 4: 40,941,555 E123D possibly damaging Het
Cabs1 A G 5: 87,980,480 E330G probably benign Het
Ccdc33 T C 9: 58,033,655 K435E probably benign Het
Clip2 T G 5: 134,494,264 K943T probably damaging Het
Cmya5 T C 13: 93,048,907 I3527V possibly damaging Het
Cyp2w1 C T 5: 139,355,629 R244C probably benign Het
Dcaf13 C A 15: 39,138,149 A284E probably damaging Het
Ddx31 T A 2: 28,859,029 L279Q probably damaging Het
Dgki A G 6: 37,032,921 L497P probably damaging Het
Dnah12 A T 14: 26,706,917 I233F probably benign Het
Dpp6 G T 5: 27,721,087 G720* probably null Het
E430018J23Rik G A 7: 127,392,353 T154I possibly damaging Het
Emc1 T C 4: 139,371,668 Y821H possibly damaging Het
Esr1 C T 10: 4,998,003 R519W probably damaging Het
Gamt A T 10: 80,258,396 V227E possibly damaging Het
Habp2 A G 19: 56,311,737 Q206R probably damaging Het
Ihh A G 1: 74,950,946 I90T probably damaging Het
Kif20b T C 19: 34,934,458 probably benign Het
Lcp2 T C 11: 34,050,966 probably benign Het
Lyrm2 A G 4: 32,800,649 I29V probably benign Het
Macf1 T C 4: 123,491,794 D1168G probably damaging Het
Mocos T C 18: 24,695,896 S753P probably benign Het
Myo3a A G 2: 22,332,393 E367G probably benign Het
Ndor1 G A 2: 25,249,194 A255V possibly damaging Het
Nfat5 C T 8: 107,339,051 P148S probably damaging Het
Olfr1043 T A 2: 86,162,098 M284L possibly damaging Het
Olfr1226 A T 2: 89,193,368 F222Y probably benign Het
Olfr5 T C 7: 6,480,439 Y239C probably benign Het
Olfr890 A T 9: 38,143,785 T217S possibly damaging Het
Pappa2 C T 1: 158,761,618 C1679Y probably damaging Het
Pcdhb2 T A 18: 37,296,498 I508N probably damaging Het
Pkd2l1 G A 19: 44,157,268 T172I probably benign Het
Pld5 A G 1: 176,274,744 V44A possibly damaging Het
Prss44 T C 9: 110,817,131 W309R probably damaging Het
Rc3h2 A T 2: 37,411,225 N88K probably benign Het
Rspry1 A G 8: 94,633,140 I102M possibly damaging Het
Stab2 A G 10: 86,859,742 probably null Het
Tbx3 C A 5: 119,675,584 Y228* probably null Het
Tcf15 G T 2: 152,144,145 probably benign Het
Tmem41b A G 7: 109,978,796 S94P possibly damaging Het
Trmt10b A T 4: 45,308,508 I223F possibly damaging Het
Urod T A 4: 116,990,282 probably benign Het
Vwf G T 6: 125,555,395 R52L probably damaging Het
Wnk2 C A 13: 49,057,167 Q232H probably damaging Het
Zbtb10 C A 3: 9,251,812 P228Q probably damaging Het
Other mutations in Tyrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Tyrp1 APN 4 80840765 missense possibly damaging 0.95
IGL01586:Tyrp1 APN 4 80844898 missense probably benign 0.00
IGL01620:Tyrp1 APN 4 80844802 nonsense probably null
IGL02126:Tyrp1 APN 4 80837608 nonsense probably null
IGL02601:Tyrp1 APN 4 80840775 missense probably null 0.00
IGL02630:Tyrp1 APN 4 80840757 missense possibly damaging 0.95
butter UTSW 4 80840806 critical splice donor site probably null
ca-los UTSW 4 80844868 nonsense probably null
chi UTSW 4 80840778 missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80840793 missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80840793 missense probably damaging 1.00
R0145:Tyrp1 UTSW 4 80840778 missense probably damaging 1.00
R1172:Tyrp1 UTSW 4 80844868 nonsense probably null
R1173:Tyrp1 UTSW 4 80844868 nonsense probably null
R1175:Tyrp1 UTSW 4 80844868 nonsense probably null
R1886:Tyrp1 UTSW 4 80840806 critical splice donor site probably null
R2099:Tyrp1 UTSW 4 80835379 missense possibly damaging 0.69
R2273:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2274:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2275:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2312:Tyrp1 UTSW 4 80837564 nonsense probably null
R2427:Tyrp1 UTSW 4 80850871 missense probably benign 0.00
R2440:Tyrp1 UTSW 4 80846606 missense probably benign 0.41
R2915:Tyrp1 UTSW 4 80837455 missense possibly damaging 0.46
R4343:Tyrp1 UTSW 4 80849841 missense possibly damaging 0.92
R4512:Tyrp1 UTSW 4 80837512 missense probably damaging 1.00
R4703:Tyrp1 UTSW 4 80840806 critical splice donor site probably null
R4732:Tyrp1 UTSW 4 80844935 missense possibly damaging 0.67
R4733:Tyrp1 UTSW 4 80844935 missense possibly damaging 0.67
R4788:Tyrp1 UTSW 4 80844943 nonsense probably null
R4834:Tyrp1 UTSW 4 80846596 nonsense probably null
R4911:Tyrp1 UTSW 4 80850907 utr 3 prime probably benign
R4938:Tyrp1 UTSW 4 80840646 missense probably damaging 1.00
R5129:Tyrp1 UTSW 4 80846607 missense probably damaging 1.00
R5154:Tyrp1 UTSW 4 80850717 missense probably benign 0.00
R6249:Tyrp1 UTSW 4 80850772 missense possibly damaging 0.93
R6492:Tyrp1 UTSW 4 80840781 missense probably null 1.00
R6617:Tyrp1 UTSW 4 80846747 missense probably benign 0.24
R6870:Tyrp1 UTSW 4 80850777 missense probably benign 0.37
R6990:Tyrp1 UTSW 4 80835437 missense probably damaging 1.00
R7275:Tyrp1 UTSW 4 80837584 missense possibly damaging 0.78
R7684:Tyrp1 UTSW 4 80840625 missense probably damaging 1.00
R7980:Tyrp1 UTSW 4 80840627 missense probably damaging 1.00
R8001:Tyrp1 UTSW 4 80840670 missense probably benign 0.10
R8051:Tyrp1 UTSW 4 80837660 missense probably damaging 1.00
R8233:Tyrp1 UTSW 4 80850953 missense unknown
R8326:Tyrp1 UTSW 4 80850684 missense probably benign 0.06
Z1176:Tyrp1 UTSW 4 80844889 nonsense probably null
Z1177:Tyrp1 UTSW 4 80849817 missense probably benign
Posted On2015-04-16