Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Epyc'

153754

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: 0.062) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

97644068-97682454 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 97681237 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 312 (C312*)

Ref Sequence

ENSEMBL: ENSMUSP00000100922 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000020094
AA Change: C312*

SMART Domains

Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: C312*

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 null
Transcript: ENSMUST00000105285
AA Change: C312*

SMART Domains

Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: C312*

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in Epyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Epyc	APN	10	97681147	missense	probably benign	0.14
IGL01347:Epyc	APN	10	97674731	missense	probably damaging	1.00
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

Posted On

2014-02-04