Incidental Mutation 'IGL03078:Scpep1'
ID |
417770 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL03078
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
88814846-88846268 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 88826657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 260
(I260F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000287]
|
AlphaFold |
Q920A5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000287
AA Change: I260F
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000287 Gene: ENSMUSG00000000278 AA Change: I260F
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly 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 |
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 |
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 |
|
Posted On |
2016-08-02 |