Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01995:Dct'

183665

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) question?

Stock #

IGL01995

Quality Score

Status

Chromosome

Chromosomal Location

118250202-118289656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118271655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 392 (F392L)

Ref Sequence

ENSEMBL: ENSMUSP00000022725 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022725]

AlphaFold

P29812

Predicted Effect

probably damaging
Transcript: ENSMUST00000022725
AA Change: F392L

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: F392L

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: 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	C	14: 44,401,302 (GRCm39)		probably benign	Het
AI661453	C	A	17: 47,779,442 (GRCm39)		probably benign	Het
Arhgap29	G	A	3: 121,807,977 (GRCm39)	V1052I	probably benign	Het
Arhgef17	A	G	7: 100,577,862 (GRCm39)	S1029P	probably benign	Het
Arpc5l	T	C	2: 38,898,226 (GRCm39)	S7P	probably damaging	Het
Asf1b	A	G	8: 84,682,533 (GRCm39)	I26V	probably benign	Het
Cep95	T	C	11: 106,697,197 (GRCm39)	L240P	probably damaging	Het
Cnmd	A	G	14: 79,879,508 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,180,846 (GRCm39)	N783I	probably damaging	Het
Col6a2	C	A	10: 76,440,676 (GRCm39)		probably benign	Het
Col9a2	T	C	4: 120,907,607 (GRCm39)		probably null	Het
Cry2	T	C	2: 92,254,977 (GRCm39)	E126G	probably benign	Het
Cxcl15	T	C	5: 90,942,467 (GRCm39)	V13A	possibly damaging	Het
Dbr1	A	G	9: 99,465,952 (GRCm39)	D510G	probably benign	Het
Dgkz	A	G	2: 91,764,395 (GRCm39)		probably benign	Het
Dhrs7b	A	G	11: 60,721,541 (GRCm39)	I2V	probably benign	Het
Efnb3	A	T	11: 69,447,730 (GRCm39)		probably null	Het
Fbf1	T	A	11: 116,041,846 (GRCm39)	R565S	probably null	Het
Gimap5	T	C	6: 48,729,727 (GRCm39)	I99T	probably damaging	Het
Gm9912	A	G	3: 148,891,085 (GRCm39)	L16P	unknown	Het
Gpr17	A	G	18: 32,080,187 (GRCm39)	L292P	probably damaging	Het
Hdac10	C	T	15: 89,011,801 (GRCm39)	V129M	probably damaging	Het
Mfap3l	A	G	8: 61,124,498 (GRCm39)	I247V	possibly damaging	Het
Mtus1	A	T	8: 41,537,457 (GRCm39)	S86R	probably damaging	Het
Mylk3	A	G	8: 86,085,890 (GRCm39)	S55P	possibly damaging	Het
Nol6	A	T	4: 41,118,567 (GRCm39)	C745S	probably damaging	Het
Nudt13	A	T	14: 20,356,385 (GRCm39)	E103D	probably damaging	Het
Or10ag59	A	G	2: 87,405,806 (GRCm39)	Y126C	probably damaging	Het
Or1e35	A	G	11: 73,798,261 (GRCm39)	I19T	possibly damaging	Het
Pdzk1	G	T	3: 96,764,687 (GRCm39)	A324S	probably benign	Het
Pofut2	T	C	10: 77,096,515 (GRCm39)	V80A	possibly damaging	Het
Rasip1	A	G	7: 45,286,240 (GRCm39)	D821G	probably damaging	Het
Rnf10	T	A	5: 115,389,161 (GRCm39)	K273*	probably null	Het
Slc4a9	A	G	18: 36,672,828 (GRCm39)	M811V	possibly damaging	Het
Smchd1	T	C	17: 71,751,015 (GRCm39)	D301G	probably damaging	Het
Tm9sf2	A	T	14: 122,380,883 (GRCm39)	T159S	probably benign	Het
Tom1l1	G	A	11: 90,540,687 (GRCm39)	P327S	probably damaging	Het
Trim3	A	G	7: 105,267,689 (GRCm39)		probably benign	Het
Trpm6	A	C	19: 18,807,691 (GRCm39)		probably benign	Het
Ttc13	A	C	8: 125,415,621 (GRCm39)	L245R	probably damaging	Het
Txnrd1	T	A	10: 82,713,118 (GRCm39)	V60E	probably damaging	Het
Ung	T	A	5: 114,274,447 (GRCm39)	D173E	probably benign	Het
Zbtb5	A	G	4: 44,995,294 (GRCm39)	V30A	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
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

2014-05-07