Incidental Mutation 'IGL01778:Epyc'
| ID |
153754 |
| 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: 0.064)
|
| Stock # |
IGL01778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
97479930-97517770 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 97517099 bp (GRCm39)
|
| 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]
|
| AlphaFold |
P70186 |
| 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: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
| Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
| Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,498,861 (GRCm39) |
N181K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
| Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
| Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
G |
A |
2: 28,725,100 (GRCm39) |
R211C |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hsh2d |
A |
G |
8: 72,947,351 (GRCm39) |
D16G |
probably damaging |
Het |
| Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
| Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
| Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
| Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
| Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
| Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
| Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,878,200 (GRCm39) |
C310S |
probably damaging |
Het |
| Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
| Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
| Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,432,381 (GRCm39) |
T260A |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
| Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
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 |
|
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 |
2014-02-04 |
Incidental Mutation