Incidental Mutation 'IGL00945:Dct'
| ID |
28956 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dct
|
| Ensembl Gene |
ENSMUSG00000022129 |
| Gene Name |
dopachrome tautomerase |
| Synonyms |
Tyrp-2, TRP2, tyrosinase-related protein-2, Tyrp2, TRP-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00945
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
118250202-118289656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118277916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 218
(T218M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022725]
|
| AlphaFold |
P29812 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022725
AA Change: T218M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: T218M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Blast:EGF
|
90 |
118 |
4e-6 |
BLAST |
|
Pfam:Tyrosinase
|
179 |
409 |
1.2e-35 |
PFAM |
|
transmembrane domain
|
469 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228548
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutations in this melanocyte protein gene cause coat color dilution. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
A |
G |
5: 35,994,364 (GRCm39) |
I101V |
probably damaging |
Het |
| Aldh5a1 |
A |
G |
13: 25,110,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
A |
C |
13: 98,103,907 (GRCm39) |
L728R |
possibly damaging |
Het |
| Hcn2 |
C |
T |
10: 79,569,637 (GRCm39) |
R546* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,115 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
C |
T |
11: 74,708,192 (GRCm39) |
H464Y |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,238,832 (GRCm39) |
R725Q |
probably null |
Het |
| Nf1 |
T |
C |
11: 79,360,629 (GRCm39) |
F1436L |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,921,571 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
A |
T |
10: 129,637,776 (GRCm39) |
V206E |
possibly damaging |
Het |
| Pde5a |
T |
A |
3: 122,629,291 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,616,391 (GRCm39) |
Y168C |
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,466,549 (GRCm39) |
I170V |
probably benign |
Het |
| Pop5 |
A |
G |
5: 115,378,618 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
G |
T |
5: 142,070,368 (GRCm39) |
|
probably null |
Het |
| Sema3f |
G |
A |
9: 107,562,721 (GRCm39) |
S420L |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,007,384 (GRCm39) |
E289K |
possibly damaging |
Het |
| Smarca1 |
A |
T |
X: 46,947,178 (GRCm39) |
Y526* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,890,083 (GRCm39) |
|
probably benign |
Het |
| St7l |
C |
A |
3: 104,833,798 (GRCm39) |
H486Q |
probably damaging |
Het |
| Tcte1 |
C |
A |
17: 45,852,115 (GRCm39) |
F449L |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,866,086 (GRCm39) |
|
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,151,725 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,640,193 (GRCm39) |
|
probably null |
Het |
| Zc3h13 |
A |
G |
14: 75,567,587 (GRCm39) |
D960G |
probably damaging |
Het |
|
| Other mutations in Dct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01399:Dct
|
APN |
14 |
118,273,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01995:Dct
|
APN |
14 |
118,271,655 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0589:Dct
|
UTSW |
14 |
118,280,682 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1101:Dct
|
UTSW |
14 |
118,274,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Dct
|
UTSW |
14 |
118,271,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1823:Dct
|
UTSW |
14 |
118,273,935 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1902:Dct
|
UTSW |
14 |
118,271,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1903:Dct
|
UTSW |
14 |
118,271,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1985:Dct
|
UTSW |
14 |
118,273,954 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2210:Dct
|
UTSW |
14 |
118,280,561 (GRCm39) |
missense |
probably benign |
|
|
R5811:Dct
|
UTSW |
14 |
118,250,600 (GRCm39) |
missense |
probably benign |
|
|
R6025:Dct
|
UTSW |
14 |
118,273,876 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7974:Dct
|
UTSW |
14 |
118,277,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Dct
|
UTSW |
14 |
118,280,615 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2013-04-17 |
Incidental Mutation