Incidental Mutation 'R5005:Epyc'
| ID |
390144 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
97479930-97517770 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97510562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 122
(T122A)
|
| 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: T122A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: T122A
| 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: T122A
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: T122A
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2b1 |
T |
C |
11: 83,230,218 (GRCm39) |
V412A |
probably damaging |
Het |
| Asic2 |
T |
C |
11: 80,774,252 (GRCm39) |
Y455C |
probably damaging |
Het |
| Bbx |
T |
C |
16: 50,086,714 (GRCm39) |
K61E |
probably damaging |
Het |
| Cd207 |
T |
C |
6: 83,651,367 (GRCm39) |
E196G |
possibly damaging |
Het |
| Chn1 |
T |
A |
2: 73,490,130 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Cpd |
A |
G |
11: 76,704,396 (GRCm39) |
I406T |
probably damaging |
Het |
| D630003M21Rik |
C |
T |
2: 158,053,563 (GRCm39) |
V642I |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,281,188 (GRCm39) |
L2750F |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,791,358 (GRCm39) |
H567R |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,739,444 (GRCm39) |
D729G |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,144,241 (GRCm39) |
V1204L |
probably benign |
Het |
| Noa1 |
T |
C |
5: 77,456,873 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,370 (GRCm39) |
M278V |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,348 (GRCm39) |
M67V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,672,310 (GRCm39) |
S718P |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,647 (GRCm39) |
V1061E |
probably benign |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,546 (GRCm39) |
Q128R |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,693,625 (GRCm39) |
Q705L |
probably damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,377,658 (GRCm39) |
C163S |
probably benign |
Het |
| Tigd2 |
A |
G |
6: 59,188,131 (GRCm39) |
T333A |
probably benign |
Het |
| Urb2 |
T |
C |
8: 124,757,920 (GRCm39) |
V1209A |
probably damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,273,352 (GRCm39) |
V722D |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCAATTTGGTAGAGGCTC -3'
(R):5'- ATAATACCATGGCAATGCACTG -3'
Sequencing Primer
(F):5'- TTTGGTAGAGGCTCTAAATTATTGAC -3'
(R):5'- AATTTCCTATTGGCTACTATGTGTTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation