Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Dct'

79586

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 #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

118250202-118289656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118273890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 339 (F339S)

Ref Sequence

ENSEMBL: ENSMUSP00000022725 (fasta)

Gene Model

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

AlphaFold

P29812

Predicted Effect

probably damaging
Transcript: ENSMUST00000022725
AA Change: F339S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: F339S

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asic4	T	A	1: 75,445,790 (GRCm39)	N206K	possibly damaging	Het
Bsn	A	G	9: 107,984,386 (GRCm39)	Y3223H	unknown	Het
Btaf1	C	T	19: 36,977,570 (GRCm39)	R1463*	probably null	Het
Ccdc146	A	G	5: 21,499,611 (GRCm39)	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Chd5	T	C	4: 152,441,144 (GRCm39)	W195R	probably damaging	Het
Cntn1	A	G	15: 92,203,025 (GRCm39)	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,747,408 (GRCm39)	E435G	probably benign	Het
Ddx54	G	T	5: 120,761,968 (GRCm39)	E554*	probably null	Het
Dock3	G	T	9: 106,870,670 (GRCm39)	S581R	probably benign	Het
Dst	A	G	1: 34,156,598 (GRCm39)	H176R	probably benign	Het
Emc8	A	G	8: 121,385,745 (GRCm39)	M123T	probably damaging	Het
Evc	T	A	5: 37,490,357 (GRCm39)	D55V	probably damaging	Het
Gm5424	A	G	10: 61,907,272 (GRCm39)		noncoding transcript	Het
Gpr149	A	T	3: 62,511,852 (GRCm39)	L49Q	probably damaging	Het
Hcfc1	C	T	X: 72,993,515 (GRCm39)	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,167,393 (GRCm39)	Q263K	probably damaging	Het
Ift172	T	C	5: 31,423,592 (GRCm39)	E790G	probably benign	Het
Ipp	A	G	4: 116,372,384 (GRCm39)	N138D	probably damaging	Het
Isg20	A	T	7: 78,569,836 (GRCm39)	T158S	possibly damaging	Het
Klf17	A	G	4: 117,616,356 (GRCm39)	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,370,161 (GRCm39)	L233P	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,651,470 (GRCm39)	L1544Q	probably damaging	Het
Nexmif	T	A	X: 103,130,786 (GRCm39)	D377V	probably damaging	Het
Nobox	T	C	6: 43,280,972 (GRCm39)	T501A	probably benign	Het
Noc3l	T	C	19: 38,804,099 (GRCm39)	D93G	possibly damaging	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nup205	T	C	6: 35,196,624 (GRCm39)	I1120T	possibly damaging	Het
Or5b96	A	T	19: 12,867,803 (GRCm39)	M46K	probably benign	Het
Or5h18	C	T	16: 58,847,629 (GRCm39)	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Selenof	C	T	3: 144,302,669 (GRCm39)	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997 (GRCm39)	G31V	probably damaging	Het
Slc35e1	C	A	8: 73,238,534 (GRCm39)	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,376,794 (GRCm39)	D1016G	probably damaging	Het
Synj2	T	G	17: 6,060,046 (GRCm39)	C149W	probably damaging	Het
Tecpr1	A	G	5: 144,145,411 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,594,164 (GRCm39)		probably null	Het
Vmn2r63	T	A	7: 42,553,543 (GRCm39)	K571M	probably damaging	Het
Wdr53	A	G	16: 32,070,718 (GRCm39)	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,780,819 (GRCm39)	L144S	probably damaging	Het
Zfp185	T	A	X: 72,043,654 (GRCm39)	S154T	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
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
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

2013-11-05