Incidental Mutation 'R1101:Dct'
ID 98129
Institutional Source Beutler Lab
Gene Symbol Dct
Ensembl Gene ENSMUSG00000022129
Gene Name dopachrome tautomerase
Synonyms TRP-2, Tyrp2, tyrosinase-related protein-2, TRP2, Tyrp-2
MMRRC Submission 039174-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R1101 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 118012790-118052244 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 118036622 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 291 (D291A)
Ref Sequence ENSEMBL: ENSMUSP00000022725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022725]
AlphaFold P29812
Predicted Effect probably damaging
Transcript: ENSMUST00000022725
AA Change: D291A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: D291A

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: ENSMUST00000228548
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,952,411 I249M possibly damaging Het
2610021A01Rik C A 7: 41,627,359 H829N probably damaging Het
4930433I11Rik A T 7: 40,993,056 T141S probably benign Het
Abi3bp G T 16: 56,606,158 R512L probably damaging Het
Acot2 T G 12: 83,992,850 S378A probably benign Het
Akap9 T C 5: 4,046,205 I2360T probably benign Het
Bank1 T C 3: 136,283,864 D155G probably benign Het
Bsn A G 9: 108,116,411 V714A probably damaging Het
Cdh15 G A 8: 122,860,846 V170I possibly damaging Het
Clcn2 G A 16: 20,703,595 T787I probably damaging Het
Dapk1 A G 13: 60,716,785 H131R probably damaging Het
Dhx37 A G 5: 125,415,152 Y1128H probably damaging Het
Dip2c A T 13: 9,634,744 I1174F probably damaging Het
Eif3l A G 15: 79,075,267 Y3C probably damaging Het
Enpp5 A G 17: 44,081,367 N229S possibly damaging Het
Fam83b A T 9: 76,545,670 H38Q possibly damaging Het
Fcamr T A 1: 130,814,486 probably null Het
Hdac2 G A 10: 36,991,809 V184I probably damaging Het
Igf2bp2 A T 16: 22,162,950 L5Q probably damaging Het
Iqca C A 1: 90,142,731 G133V probably null Het
Ireb2 T A 9: 54,909,702 H951Q probably benign Het
Lman1 T A 18: 65,987,898 M418L probably benign Het
Lrrfip2 C T 9: 111,190,225 R275W probably damaging Het
Mast3 T A 8: 70,786,663 I424F probably damaging Het
Mep1a T C 17: 43,491,693 D147G probably benign Het
Mtr C A 13: 12,189,525 E1128D possibly damaging Het
Ogfod1 C A 8: 94,064,304 S534R probably benign Het
Olfr1212 A T 2: 88,958,984 I173F possibly damaging Het
Olfr1290 T C 2: 111,489,442 T239A probably damaging Het
Olfr173 A G 16: 58,797,252 V198A probably benign Het
Oxtr C T 6: 112,477,177 R42Q probably benign Het
Pcdh18 T A 3: 49,753,379 D882V probably damaging Het
Pik3cg C T 12: 32,195,646 G868S probably null Het
Plppr5 T G 3: 117,662,523 M231R probably damaging Het
Polr2a T C 11: 69,748,071 T46A probably benign Het
Ppp4r3a C A 12: 101,051,571 R440L probably damaging Het
Serpinb9e A T 13: 33,260,088 T364S probably benign Het
Sirt3 A G 7: 140,869,628 V135A possibly damaging Het
Supt16 T C 14: 52,171,439 N826S probably null Het
Tbr1 T C 2: 61,804,739 I11T probably benign Het
Trim72 A G 7: 128,010,247 E407G possibly damaging Het
Vps72 C A 3: 95,119,176 T144K probably damaging 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
R0589:Dct UTSW 14 118043270 missense probably benign 0.17
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
R7974:Dct UTSW 14 118039655 missense probably damaging 1.00
R8401:Dct UTSW 14 118043203 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GACCATTGCCTACCTGAAGCTGAAG -3'
(R):5'- ACTGGCTGTGTAATAGAAGCTGCTG -3'

Sequencing Primer
(F):5'- AGAGACAGGCAATCTTGCAC -3'
(R):5'- ATAGAAGCTGCTGTATTACCCC -3'
Posted On 2014-01-05