Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Pmel'

2235

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pmel

Ensembl Gene

ENSMUSG00000025359

Gene Name

premelanosome protein

Synonyms

Pmel17, gp100, D10H12S53E, Si, D12S53Eh, gp87

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

128704195-128720238 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128716089 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 264 (G264V)

Ref Sequence

ENSEMBL: ENSMUSP00000051869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026414] [ENSMUST00000054125] [ENSMUST00000217836] [ENSMUST00000219157] [ENSMUST00000219834]

Predicted Effect

probably benign
Transcript: ENSMUST00000026414

SMART Domains

Protein: ENSMUSP00000026414
Gene: ENSMUSG00000025357

Domain	Start	End	E-Value	Type
Pfam:DAG_kinase_N	4	93	6.9e-31	PFAM
EFh	115	143	3.82e0	SMART
EFh	160	188	1.29e-4	SMART
C1	207	254	2.29e-10	SMART
C1	269	320	6.91e-5	SMART
DAGKc	372	495	3.11e-62	SMART
DAGKa	515	696	4.1e-103	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054125
AA Change: G264V

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051869
Gene: ENSMUSG00000025359
AA Change: G264V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
PKD	228	310	3.17e-7	SMART
low complexity region	326	348	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
transmembrane domain	559	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217836

Predicted Effect

probably benign
Transcript: ENSMUST00000219157

Predicted Effect

probably benign
Transcript: ENSMUST00000219834

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PHENOTYPE: This mutation affects the viability of melanoblasts, resulting in random occurrence of white, partially white or gray hairs, and fully pigmented hairs that together display as varying intensities of silvering. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Pmel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01788:Pmel	APN	10	128717832	missense	probably damaging	1.00
IGL03205:Pmel	APN	10	128716448	missense	probably benign	0.05
R0288:Pmel	UTSW	10	128714306	missense	probably benign
R0944:Pmel	UTSW	10	128715257	missense	possibly damaging	0.82
R1220:Pmel	UTSW	10	128714060	missense	probably benign	0.01
R1429:Pmel	UTSW	10	128718992	splice site	probably null
R5222:Pmel	UTSW	10	128718984	splice site	probably null
R5689:Pmel	UTSW	10	128716301	missense	probably damaging	1.00
R5767:Pmel	UTSW	10	128714381	missense	probably damaging	0.99
R6145:Pmel	UTSW	10	128715935	missense	probably damaging	1.00
R7287:Pmel	UTSW	10	128715226	nonsense	probably null
R7410:Pmel	UTSW	10	128716484	missense	probably benign	0.22
R7978:Pmel	UTSW	10	128715950	missense	probably damaging	1.00

Posted On

2011-12-09