Incidental Mutation 'IGL03176:Epyc'
ID |
412006 |
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 # |
IGL03176
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
97479930-97517770 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
A to G
at 97485562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1
(M1V)
|
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: M1V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000020094 Gene: ENSMUSG00000019936 AA Change: M1V
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 null
Transcript: ENSMUST00000105285
AA Change: M1V
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000100922 Gene: ENSMUSG00000019936 AA Change: M1V
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
Akr1a1 |
A |
G |
4: 116,496,272 (GRCm39) |
L213S |
probably damaging |
Het |
Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
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 |
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 |
2016-08-02 |