Incidental Mutation 'R4330:Scpep1'
| ID |
324572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scpep1
|
| Ensembl Gene |
ENSMUSG00000000278 |
| Gene Name |
serine carboxypeptidase 1 |
| Synonyms |
2410018F01Rik, Risc, 4833411K15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4330 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
88814846-88846268 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 88826729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 236
(Q236*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000287]
|
| AlphaFold |
Q920A5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000287
AA Change: Q236*
|
| SMART Domains |
Protein: ENSMUSP00000000287
Gene: ENSMUSG00000000278
AA Change: Q236*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_S10
|
29 |
451 |
2e-99 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139592
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,079,287 (GRCm39) |
K312N |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
G |
A |
15: 19,000,045 (GRCm39) |
V497I |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,078,565 (GRCm39) |
V229A |
probably benign |
Het |
| Cnr2 |
T |
A |
4: 135,644,237 (GRCm39) |
I105N |
possibly damaging |
Het |
| Dnai1 |
A |
G |
4: 41,637,966 (GRCm39) |
T701A |
probably damaging |
Het |
| Eri1 |
G |
A |
8: 35,936,383 (GRCm39) |
R313* |
probably null |
Het |
| Hrh3 |
T |
C |
2: 179,741,665 (GRCm39) |
|
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,708,726 (GRCm39) |
V87D |
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Mfsd4a |
A |
C |
1: 131,981,291 (GRCm39) |
M320R |
possibly damaging |
Het |
| Myocd |
A |
T |
11: 65,114,590 (GRCm39) |
H49Q |
probably benign |
Het |
| Nlk |
A |
G |
11: 78,481,774 (GRCm39) |
I229T |
possibly damaging |
Het |
| Rabl2 |
T |
C |
15: 89,471,137 (GRCm39) |
D66G |
probably benign |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,492,782 (GRCm39) |
K413R |
probably benign |
Het |
| Stil |
A |
G |
4: 114,862,176 (GRCm39) |
R40G |
probably damaging |
Het |
| Syt7 |
T |
C |
19: 10,399,162 (GRCm39) |
V86A |
probably damaging |
Het |
| Ubr2 |
A |
T |
17: 47,278,204 (GRCm39) |
L711Q |
probably null |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,386 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
C |
T |
9: 72,203,261 (GRCm39) |
T3I |
possibly damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,361 (GRCm39) |
F342I |
probably damaging |
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 |
|
|
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 |
|
R8285:Scpep1
|
UTSW |
11 |
88,843,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Scpep1
|
UTSW |
11 |
88,835,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTAAATCTGTGGGAGAGTCAGG -3'
(R):5'- TCTCTGAGACTTCTGACAACACTC -3'
Sequencing Primer
(F):5'- TCAGGACAGGGCCAATCCTC -3'
(R):5'- CTGACAACACTCTTCTTAGGTAAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation