Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00430:Epyc'

4675

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epyc

Ensembl Gene

ENSMUSG00000019936

Gene Name

epiphycan

Synonyms

PG-Lb, epiphycan, Dspg3, SLRR3B

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL00430

Quality Score

Status

Chromosome

Chromosomal Location

97644068-97682454 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97681147 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 282 (K282N)

Ref Sequence

ENSEMBL: ENSMUSP00000100922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]

Predicted Effect

probably benign
Transcript: ENSMUST00000020094
AA Change: K282N

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: K282N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	117	147	1.79e-6	SMART
LRR	166	189	1.73e0	SMART
LRR	190	215	3.47e0	SMART
LRR	258	280	3.18e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099324

Predicted Effect

probably benign
Transcript: ENSMUST00000105285
AA Change: K282N

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: K282N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	117	147	1.79e-6	SMART
LRR	166	189	1.73e0	SMART
LRR	190	215	3.47e0	SMART
LRR	258	280	3.18e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220233

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,784,202	S17N	probably benign	Het
Atp2a1	C	T	7: 126,447,216	W72*	probably null	Het
Baz2b	C	A	2: 59,912,795	A1611S	probably benign	Het
Cep290	A	T	10: 100,508,724	I475L	probably benign	Het
Cpsf4l	C	T	11: 113,709,218		probably benign	Het
Crispld2	A	T	8: 120,033,560	R408S	probably damaging	Het
Cyp3a25	A	T	5: 145,993,360	M145K	probably damaging	Het
Dexi	A	T	16: 10,542,445	D82E	probably benign	Het
Ercc6l2	G	T	13: 63,858,319	V588F	probably damaging	Het
Galnt14	C	T	17: 73,494,232	V532I	probably damaging	Het
Grk1	C	A	8: 13,413,128	Y383*	probably null	Het
Gtpbp1	G	T	15: 79,719,136	G609W	possibly damaging	Het
Hadha	C	T	5: 30,120,147	V682M	possibly damaging	Het
Igdcc3	A	C	9: 65,182,019	D499A	probably damaging	Het
Kcna10	T	G	3: 107,194,728	V225G	probably damaging	Het
Kcnh4	T	C	11: 100,757,654	T75A	possibly damaging	Het
Lama4	A	G	10: 39,045,704	E407G	possibly damaging	Het
Mrpl13	T	A	15: 55,540,201	K105N	probably damaging	Het
Pcdhb2	A	T	18: 37,296,463		probably null	Het
Pck2	C	T	14: 55,543,944	A209V	probably benign	Het
Plce1	A	G	19: 38,725,017	E1243G	probably damaging	Het
Plekhh2	A	T	17: 84,521,775	M25L	probably benign	Het
Rasef	G	A	4: 73,771,425	Q117*	probably null	Het
Rbm14	A	G	19: 4,811,426	V28A	probably damaging	Het
Rcan2	A	G	17: 43,836,384	T38A	probably benign	Het
Rin1	A	G	19: 5,051,376	N96S	probably benign	Het
Rrp12	A	G	19: 41,877,334		probably null	Het
Slco1a6	A	T	6: 142,101,651	C404*	probably null	Het
St6galnac3	T	C	3: 153,509,403	N38S	probably benign	Het
Top2b	T	A	14: 16,422,692	S1376R	probably benign	Het
Trip11	T	C	12: 101,886,147	I553V	probably benign	Het
Trip12	T	G	1: 84,763,861	H559P	probably damaging	Het
Uggt2	A	T	14: 119,026,429	L1063*	probably null	Het
Zmym6	T	A	4: 127,101,949	C269*	probably null	Het

Other mutations in Epyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Epyc	APN	10	97674731	missense	probably damaging	1.00
IGL01778:Epyc	APN	10	97681237	nonsense	probably null
IGL02010:Epyc	APN	10	97649701	start codon destroyed	probably null	1.00
IGL02159:Epyc	APN	10	97670631	missense	probably benign	0.00
IGL03176:Epyc	APN	10	97649700	start codon destroyed	probably null	0.99
R0110:Epyc	UTSW	10	97649763	missense	probably benign	0.03
R0469:Epyc	UTSW	10	97649763	missense	probably benign	0.03
R0510:Epyc	UTSW	10	97649763	missense	probably benign	0.03
R1883:Epyc	UTSW	10	97675833	missense	possibly damaging	0.83
R2013:Epyc	UTSW	10	97675793	missense	probably damaging	1.00
R2355:Epyc	UTSW	10	97677013	missense	probably damaging	1.00
R5005:Epyc	UTSW	10	97674700	missense	probably benign	0.11
R5958:Epyc	UTSW	10	97649842	missense	probably benign
R7311:Epyc	UTSW	10	97649700	start codon destroyed	probably null	0.99
R8236:Epyc	UTSW	10	97681205	missense	probably damaging	1.00
R8786:Epyc	UTSW	10	97675663	missense	probably damaging	1.00

Posted On

2012-04-20