Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Epyc'

471295

Institutional Source

Beutler Lab

Gene Symbol

Epyc

Ensembl Gene

ENSMUSG00000019936

Gene Name

epiphycan

Synonyms

SLRR3B, PG-Lb, Dspg3, epiphycan

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97479930-97517770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97485704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 48 (H48L)

Ref Sequence

ENSEMBL: ENSMUSP00000100922 (fasta)

Gene Model

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

AlphaFold

P70186

Predicted Effect

probably benign
Transcript: ENSMUST00000020094
AA Change: H48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: H48L

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 benign
Transcript: ENSMUST00000105285
AA Change: H48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: H48L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Prrc2b	A	G	2: 32,102,092 (GRCm39)	M722V	possibly damaging	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	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
IGL01347:Epyc	APN	10	97,510,593 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGACCAGCTTGAGTGTCTTGATG -3'
(R):5'- TGAGGTCCAAACTATGTTTATCAGC -3'

Sequencing Primer
(F):5'- CAGCTTGAGTGTCTTGATGCTGAC -3'
(R):5'- TCCAAACTATGTTTATCAGCAAAGAC -3'

Posted On

2017-03-31