Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:Epyc'

75087

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epyc

Ensembl Gene

ENSMUSG00000019936

Gene Name

epiphycan

Synonyms

SLRR3B, PG-Lb, Dspg3, epiphycan

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

97479930-97517770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97510593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 132 (D132G)

Ref Sequence

ENSEMBL: ENSMUSP00000100922 (fasta)

Gene Model

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

AlphaFold

P70186

Predicted Effect

probably damaging
Transcript: ENSMUST00000020094
AA Change: D132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: D132G

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

probably damaging
Transcript: ENSMUST00000105285
AA Change: D132G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: D132G

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,477 (GRCm39)	Y574F	probably benign	Het
Apc	C	T	18: 34,450,723 (GRCm39)	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,206,711 (GRCm39)	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,531,581 (GRCm39)	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,668,818 (GRCm39)	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,822,454 (GRCm39)	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,383,103 (GRCm39)	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,780,838 (GRCm39)	N78S	probably benign	Het
Cnnm4	G	A	1: 36,537,115 (GRCm39)	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,500,978 (GRCm39)	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,545,615 (GRCm39)		probably benign	Het
Dgkg	A	T	16: 22,419,340 (GRCm39)	D53E	probably benign	Het
Dlx3	T	A	11: 95,011,359 (GRCm39)	L71H	probably damaging	Het
Egln2	A	C	7: 26,859,717 (GRCm39)	V332G	probably null	Het
Entpd2	A	G	2: 25,288,746 (GRCm39)	Q250R	probably benign	Het
Fxr2	A	G	11: 69,543,114 (GRCm39)	D637G	probably benign	Het
Gapvd1	A	G	2: 34,596,708 (GRCm39)		probably null	Het
Gbp11	G	A	5: 105,479,194 (GRCm39)		probably benign	Het
Gm17175	A	T	14: 51,808,307 (GRCm39)	C162S	probably damaging	Het
Gm5499	C	T	17: 87,386,339 (GRCm39)		noncoding transcript	Het
Gps1	T	C	11: 120,679,086 (GRCm39)	V378A	probably benign	Het
Grik1	C	T	16: 87,754,481 (GRCm39)	R368Q	probably benign	Het
Gsap	A	G	5: 21,431,318 (GRCm39)	E214G	probably benign	Het
H2bc13	A	G	13: 21,900,064 (GRCm39)	Y84H	probably damaging	Het
Jdp2	T	C	12: 85,655,020 (GRCm39)	S28P	probably benign	Het
Kif26b	T	C	1: 178,698,240 (GRCm39)	F577S	probably damaging	Het
Kl	G	A	5: 150,904,130 (GRCm39)	G294D	probably damaging	Het
Lgsn	T	A	1: 31,243,041 (GRCm39)	D374E	probably damaging	Het
Lman1	T	C	18: 66,124,681 (GRCm39)	I353V	probably damaging	Het
Lmna	T	C	3: 88,392,270 (GRCm39)	H374R	probably benign	Het
Lrrc57	A	G	2: 120,439,286 (GRCm39)	S31P	probably benign	Het
Lum	T	A	10: 97,404,547 (GRCm39)	N147K	probably damaging	Het
Or6n2	T	C	1: 173,897,632 (GRCm39)	I256T	probably benign	Het
Or7a41	A	G	10: 78,871,445 (GRCm39)	T272A	probably benign	Het
P4ha3	C	A	7: 99,955,140 (GRCm39)	L332I	probably damaging	Het
Pelp1	A	G	11: 70,286,505 (GRCm39)	I541T	probably damaging	Het
Pja2	A	C	17: 64,620,023 (GRCm39)	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,244,268 (GRCm39)	L325P	probably damaging	Het
Robo2	T	C	16: 74,149,744 (GRCm39)	D28G	probably damaging	Het
Rpa1	A	G	11: 75,198,111 (GRCm39)	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,434,645 (GRCm39)	N430S	probably benign	Het
Scg2	T	A	1: 79,414,538 (GRCm39)	I62L	probably benign	Het
Scn5a	T	A	9: 119,391,507 (GRCm39)	K62*	probably null	Het
Sec23ip	T	C	7: 128,364,129 (GRCm39)	V469A	probably benign	Het
Shank1	A	G	7: 43,991,544 (GRCm39)	T663A	unknown	Het
Slco1a7	A	T	6: 141,700,192 (GRCm39)	Y113*	probably null	Het
Stab2	G	T	10: 86,737,567 (GRCm39)		probably null	Het
Tmcc3	T	C	10: 94,418,147 (GRCm39)	L305P	probably damaging	Het
Tmem145	A	G	7: 25,014,260 (GRCm39)	N458S	probably damaging	Het
Tpr	G	A	1: 150,302,738 (GRCm39)	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,703,058 (GRCm39)	F173I	possibly damaging	Het
Wdr17	C	T	8: 55,104,380 (GRCm39)	V898I	probably benign	Het
Wdr64	A	T	1: 175,547,899 (GRCm39)	L145F	probably benign	Het
Wnt10b	A	G	15: 98,674,826 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,298,957 (GRCm39)		probably null	Het

Other mutations in Epyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Epyc	APN	10	97,517,009 (GRCm39)	missense	probably benign	0.14
IGL01778:Epyc	APN	10	97,517,099 (GRCm39)	nonsense	probably null
IGL02010:Epyc	APN	10	97,485,563 (GRCm39)	start codon destroyed	probably null	1.00
IGL02159:Epyc	APN	10	97,506,493 (GRCm39)	missense	probably benign	0.00
IGL03176:Epyc	APN	10	97,485,562 (GRCm39)	start codon destroyed	probably null	0.99
R0110:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R0469:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R0510:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R1883:Epyc	UTSW	10	97,511,695 (GRCm39)	missense	possibly damaging	0.83
R2013:Epyc	UTSW	10	97,511,655 (GRCm39)	missense	probably damaging	1.00
R2355:Epyc	UTSW	10	97,512,875 (GRCm39)	missense	probably damaging	1.00
R5005:Epyc	UTSW	10	97,510,562 (GRCm39)	missense	probably benign	0.11
R5958:Epyc	UTSW	10	97,485,704 (GRCm39)	missense	probably benign
R7311:Epyc	UTSW	10	97,485,562 (GRCm39)	start codon destroyed	probably null	0.99
R8236:Epyc	UTSW	10	97,517,067 (GRCm39)	missense	probably damaging	1.00
R8786:Epyc	UTSW	10	97,511,525 (GRCm39)	missense	probably damaging	1.00
R8929:Epyc	UTSW	10	97,511,607 (GRCm39)	missense	probably benign	0.26
R9486:Epyc	UTSW	10	97,511,697 (GRCm39)	missense	probably benign	0.01

Posted On

2013-10-07