Mutagenetix > Incidental Mutation

Incidental Mutation 'R1101:Dct'

98129

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

039174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1101 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118250202-118289656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118274034 bp (GRCm39)

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

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,909 (GRCm39)	I249M	possibly damaging	Het
2610021A01Rik	C	A	7: 41,276,783 (GRCm39)	H829N	probably damaging	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Abi3bp	G	T	16: 56,426,521 (GRCm39)	R512L	probably damaging	Het
Acot2	T	G	12: 84,039,624 (GRCm39)	S378A	probably benign	Het
Akap9	T	C	5: 4,096,205 (GRCm39)	I2360T	probably benign	Het
Bank1	T	C	3: 135,989,625 (GRCm39)	D155G	probably benign	Het
Bsn	A	G	9: 107,993,610 (GRCm39)	V714A	probably damaging	Het
Cdh15	G	A	8: 123,587,585 (GRCm39)	V170I	possibly damaging	Het
Clcn2	G	A	16: 20,522,345 (GRCm39)	T787I	probably damaging	Het
Dapk1	A	G	13: 60,864,599 (GRCm39)	H131R	probably damaging	Het
Dhx37	A	G	5: 125,492,216 (GRCm39)	Y1128H	probably damaging	Het
Dip2c	A	T	13: 9,684,780 (GRCm39)	I1174F	probably damaging	Het
Eif3l	A	G	15: 78,959,467 (GRCm39)	Y3C	probably damaging	Het
Enpp5	A	G	17: 44,392,258 (GRCm39)	N229S	possibly damaging	Het
Fam83b	A	T	9: 76,452,952 (GRCm39)	H38Q	possibly damaging	Het
Fcamr	T	A	1: 130,742,223 (GRCm39)		probably null	Het
Hdac2	G	A	10: 36,867,805 (GRCm39)	V184I	probably damaging	Het
Igf2bp2	A	T	16: 21,981,700 (GRCm39)	L5Q	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Ireb2	T	A	9: 54,816,986 (GRCm39)	H951Q	probably benign	Het
Lman1	T	A	18: 66,120,969 (GRCm39)	M418L	probably benign	Het
Lrrfip2	C	T	9: 111,019,293 (GRCm39)	R275W	probably damaging	Het
Mast3	T	A	8: 71,239,307 (GRCm39)	I424F	probably damaging	Het
Mep1a	T	C	17: 43,802,584 (GRCm39)	D147G	probably benign	Het
Mtr	C	A	13: 12,204,411 (GRCm39)	E1128D	possibly damaging	Het
Ogfod1	C	A	8: 94,790,932 (GRCm39)	S534R	probably benign	Het
Or4c107	A	T	2: 88,789,328 (GRCm39)	I173F	possibly damaging	Het
Or4k42	T	C	2: 111,319,787 (GRCm39)	T239A	probably damaging	Het
Or5k1	A	G	16: 58,617,615 (GRCm39)	V198A	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdh18	T	A	3: 49,707,828 (GRCm39)	D882V	probably damaging	Het
Pik3cg	C	T	12: 32,245,645 (GRCm39)	G868S	probably null	Het
Plppr5	T	G	3: 117,456,172 (GRCm39)	M231R	probably damaging	Het
Polr2a	T	C	11: 69,638,897 (GRCm39)	T46A	probably benign	Het
Ppp4r3a	C	A	12: 101,017,830 (GRCm39)	R440L	probably damaging	Het
Serpinb9e	A	T	13: 33,444,071 (GRCm39)	T364S	probably benign	Het
Sirt3	A	G	7: 140,449,541 (GRCm39)	V135A	possibly damaging	Het
Supt16	T	C	14: 52,408,896 (GRCm39)	N826S	probably null	Het
Tbr1	T	C	2: 61,635,083 (GRCm39)	I11T	probably benign	Het
Trim72	A	G	7: 127,609,419 (GRCm39)	E407G	possibly damaging	Het
Vps72	C	A	3: 95,026,487 (GRCm39)	T144K	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
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

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