Incidental Mutation 'R8285:Scpep1'
| ID |
638429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scpep1
|
| Ensembl Gene |
ENSMUSG00000000278 |
| Gene Name |
serine carboxypeptidase 1 |
| Synonyms |
2410018F01Rik, Risc, 4833411K15Rik |
| MMRRC Submission |
067653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
88814846-88846268 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88843293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 55
(L55P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000287]
|
| AlphaFold |
Q920A5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000287
AA Change: L55P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000287
Gene: ENSMUSG00000000278
AA Change: L55P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
29 |
451 |
2e-99 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit no abnormal phenotype. Mice homozygous for a knock-out allele exhibit abnormal blood vessel healing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,904,079 (GRCm39) |
I206T |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,390 (GRCm39) |
L71P |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,306,383 (GRCm39) |
I468F |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,265,808 (GRCm39) |
Q187L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,865,566 (GRCm39) |
N139D |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,016,348 (GRCm39) |
I592N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,883,128 (GRCm39) |
F252S |
possibly damaging |
Het |
| Gad2 |
T |
A |
2: 22,514,940 (GRCm39) |
N139K |
probably benign |
Het |
| Gm12695 |
G |
A |
4: 96,657,990 (GRCm39) |
R60W |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,556 (GRCm39) |
V224A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,974 (GRCm39) |
D514G |
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,881 (GRCm39) |
D113G |
possibly damaging |
Het |
| Inhbc |
T |
C |
10: 127,206,010 (GRCm39) |
T86A |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,659,540 (GRCm39) |
S431P |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 65,019,825 (GRCm39) |
H1398R |
probably benign |
Het |
| Lce1f |
T |
C |
3: 92,626,238 (GRCm39) |
S140G |
unknown |
Het |
| Mapt |
T |
A |
11: 104,189,628 (GRCm39) |
D215E |
probably benign |
Het |
| Maz |
T |
C |
7: 126,624,644 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,393 (GRCm39) |
M351V |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,554,273 (GRCm39) |
P4007S |
unknown |
Het |
| Or4k47 |
A |
T |
2: 111,452,390 (GRCm39) |
S10T |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,988,176 (GRCm39) |
T110I |
probably benign |
Het |
| Or5t9 |
T |
C |
2: 86,659,443 (GRCm39) |
F116L |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,587,205 (GRCm39) |
D229G |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,636 (GRCm39) |
D293E |
probably benign |
Het |
| Rab39 |
A |
T |
9: 53,617,231 (GRCm39) |
I62N |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,162,949 (GRCm39) |
E385G |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,227,404 (GRCm39) |
S340P |
unknown |
Het |
| Sorbs2 |
T |
C |
8: 46,249,104 (GRCm39) |
L785P |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,418,540 (GRCm39) |
V239E |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,041,207 (GRCm39) |
S1896P |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,916 (GRCm39) |
T2383I |
probably benign |
Het |
|
| Other mutations in Scpep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Scpep1
|
APN |
11 |
88,843,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01123:Scpep1
|
APN |
11 |
88,832,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02341:Scpep1
|
APN |
11 |
88,835,314 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03078:Scpep1
|
APN |
11 |
88,826,657 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03014:Scpep1
|
UTSW |
11 |
88,824,271 (GRCm39) |
splice site |
probably null |
|
|
R1652:Scpep1
|
UTSW |
11 |
88,843,260 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Scpep1
|
UTSW |
11 |
88,843,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Scpep1
|
UTSW |
11 |
88,837,968 (GRCm39) |
splice site |
probably null |
|
|
R4330:Scpep1
|
UTSW |
11 |
88,826,729 (GRCm39) |
nonsense |
probably null |
|
|
R4331:Scpep1
|
UTSW |
11 |
88,826,729 (GRCm39) |
nonsense |
probably null |
|
|
R4360:Scpep1
|
UTSW |
11 |
88,821,070 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4502:Scpep1
|
UTSW |
11 |
88,835,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4885:Scpep1
|
UTSW |
11 |
88,826,737 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4896:Scpep1
|
UTSW |
11 |
88,832,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Scpep1
|
UTSW |
11 |
88,832,175 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5229:Scpep1
|
UTSW |
11 |
88,827,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5899:Scpep1
|
UTSW |
11 |
88,825,402 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5999:Scpep1
|
UTSW |
11 |
88,820,139 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6975:Scpep1
|
UTSW |
11 |
88,838,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7098:Scpep1
|
UTSW |
11 |
88,820,011 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7637:Scpep1
|
UTSW |
11 |
88,820,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Scpep1
|
UTSW |
11 |
88,824,347 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8750:Scpep1
|
UTSW |
11 |
88,835,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGAAGCATGTGACCG -3'
(R):5'- CTGTCTGAATGGCCTGAGTG -3'
Sequencing Primer
(F):5'- AAGCATGTGACCGCCCCC -3'
(R):5'- TGAGTGGCCATCTCCAACC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation