Incidental Mutation 'R4205:Tyr'
| ID |
318872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tyr
|
| Ensembl Gene |
ENSMUSG00000004651 |
| Gene Name |
tyrosinase |
| Synonyms |
skc35, Oca1 |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
87073979-87142637 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87078276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 528
(L528P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004770]
|
| AlphaFold |
P11344 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004770
AA Change: L528P
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: L528P
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
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 |
|
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 |
|
R9748:Tyr
|
UTSW |
7 |
87,142,072 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAGTCATTTCTTAGAAACTAGG -3'
(R):5'- TGGTGATATCTGTGAAAACAGCTTG -3'
Sequencing Primer
(F):5'- CCAACAAATAGGTCGAGTG -3'
(R):5'- CTGTGAAAACAGCTTGATCTCTTTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation