Incidental Mutation 'R2210:Dct'
ID |
239329 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dct
|
Ensembl Gene |
ENSMUSG00000022129 |
Gene Name |
dopachrome tautomerase |
Synonyms |
Tyrp-2, TRP2, tyrosinase-related protein-2, Tyrp2, TRP-2 |
MMRRC Submission |
040212-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2210 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
118250202-118289656 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 118280561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 152
(I152V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022725
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022725]
|
AlphaFold |
P29812 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022725
AA Change: I152V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022725 Gene: ENSMUSG00000022129 AA Change: I152V
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
Tmem107 |
A |
G |
11: 68,962,096 (GRCm39) |
E45G |
possibly damaging |
Het |
Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably damaging |
Het |
|
Other mutations in Dct |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00945:Dct
|
APN |
14 |
118,277,916 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCGCGGTAAGCCAATTTG -3'
(R):5'- TTCTACCTGGAATTCCAACTGAG -3'
Sequencing Primer
(F):5'- CGGTAAGCCAATTTGGGAAACCC -3'
(R):5'- CCTGGAATTCCAACTGAGAATTTTC -3'
|
Posted On |
2014-10-15 |