Incidental Mutation 'R0589:Dct'
ID55894
Institutional Source Beutler Lab
Gene Symbol Dct
Ensembl Gene ENSMUSG00000022129
Gene Namedopachrome tautomerase
SynonymsTRP-2, Tyrp2, tyrosinase-related protein-2, TRP2, Tyrp-2
MMRRC Submission 038779-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0589 (G1)
Quality Score180
Status Validated
Chromosome14
Chromosomal Location118012790-118052244 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 118043270 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 111 (F111L)
Ref Sequence ENSEMBL: ENSMUSP00000022725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022725]
Predicted Effect probably benign
Transcript: ENSMUST00000022725
AA Change: F111L

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: F111L

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,942,268 A1202E probably damaging Het
Abcc12 A T 8: 86,560,472 I155N possibly damaging Het
Atf4 T A 15: 80,256,439 H47Q probably damaging Het
Atm T A 9: 53,490,192 D1459V possibly damaging Het
Bicral A G 17: 46,801,596 S893P probably benign Het
Camk2a G A 18: 60,963,964 probably null Het
Cebpz G A 17: 78,936,879 T51I probably damaging Het
Cers5 A T 15: 99,740,956 D208E probably damaging Het
Cyp1a2 T C 9: 57,679,062 D391G possibly damaging Het
Ddb1 T G 19: 10,621,716 I529S probably benign Het
Dhx9 G T 1: 153,472,291 Q361K probably damaging Het
Erbin G T 13: 103,886,287 R15S probably damaging Het
F13b T C 1: 139,506,933 S146P possibly damaging Het
Fam166b T C 4: 43,427,355 probably benign Het
Fam208a T C 14: 27,461,150 I522T probably benign Het
Ggnbp2 A T 11: 84,836,451 C520S probably damaging Het
Gpx3 A G 11: 54,909,503 I208V probably benign Het
Grk3 A G 5: 112,928,763 probably benign Het
Heatr9 T C 11: 83,514,690 probably benign Het
Heg1 T G 16: 33,731,707 I762R probably damaging Het
Ints11 A T 4: 155,886,886 T264S probably damaging Het
Ints14 T C 9: 64,979,831 L348P probably damaging Het
Marf1 C A 16: 14,142,055 probably benign Het
Med13 A G 11: 86,283,249 Y1808H probably damaging Het
Mef2a G T 7: 67,235,148 S406* probably null Het
Mrpl45 A T 11: 97,323,888 T134S probably benign Het
Myh8 A G 11: 67,298,627 I1210V probably benign Het
Nsd3 T C 8: 25,641,287 S223P probably damaging Het
Olfr1105 A T 2: 87,034,115 Y35* probably null Het
Olfr1220 A G 2: 89,097,262 F222L probably benign Het
Olfr531 T G 7: 140,400,900 S49R possibly damaging Het
P3h3 T A 6: 124,841,681 E731D probably damaging Het
Pcdhac2 A G 18: 37,146,474 R836G probably benign Het
Pdzd2 A G 15: 12,376,299 V1250A probably benign Het
Pgbd1 G A 13: 21,434,430 T19I possibly damaging Het
Phtf2 T A 5: 20,813,251 R31* probably null Het
Plod2 T A 9: 92,593,746 V294D probably benign Het
Rassf5 C T 1: 131,244,983 G50R probably damaging Het
Rexo5 A G 7: 119,845,383 T694A probably benign Het
Rtcb A C 10: 85,951,451 S82A probably damaging Het
Rufy4 T C 1: 74,132,883 L255P probably damaging Het
Slc35c1 A G 2: 92,454,514 F252L probably damaging Het
Slco6d1 A T 1: 98,499,747 probably benign Het
Sox10 T G 15: 79,163,285 probably benign Het
Stard9 A G 2: 120,698,547 M1762V probably benign Het
Stat3 A T 11: 100,908,083 Y94N probably damaging Het
Tecta T A 9: 42,345,634 Y1582F probably benign Het
Tex44 A G 1: 86,427,731 D454G probably damaging Het
Tle6 A G 10: 81,595,419 probably benign Het
Tmem57 C A 4: 134,828,217 C315F probably benign Het
Tmod2 T C 9: 75,576,759 E303G probably damaging Het
Trem1 A G 17: 48,237,217 D90G possibly damaging Het
Trhde A T 10: 114,448,324 D751E probably benign Het
Ttn A T 2: 76,965,245 probably null Het
Vars2 T C 17: 35,659,176 T774A probably benign Het
Wdr63 A G 3: 146,062,331 S592P probably benign Het
Other mutations in Dct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Dct APN 14 118040504 missense probably damaging 1.00
IGL01399:Dct APN 14 118036478 missense probably damaging 0.99
IGL01995:Dct APN 14 118034243 missense probably damaging 0.96
R1101:Dct UTSW 14 118036622 missense probably damaging 1.00
R1665:Dct UTSW 14 118034251 missense probably damaging 1.00
R1823:Dct UTSW 14 118036523 missense probably benign 0.20
R1902:Dct UTSW 14 118034278 missense probably benign 0.00
R1903:Dct UTSW 14 118034278 missense probably benign 0.00
R1985:Dct UTSW 14 118036542 missense probably benign 0.11
R2210:Dct UTSW 14 118043149 missense probably benign
R5811:Dct UTSW 14 118013188 missense probably benign
R6025:Dct UTSW 14 118036464 missense possibly damaging 0.52
Predicted Primers PCR Primer
(F):5'- ATGATGCGCGGTAAGCCAATTTG -3'
(R):5'- TGTAGTAGAGGCTGCAAGCCCAAG -3'

Sequencing Primer
(F):5'- TGGGAAACCCACCTAATAATGTGTC -3'
(R):5'- GGGTTCTCTGTGCCCTATCG -3'
Posted On2013-07-11