Incidental Mutation 'R4331:Scpep1'
| ID |
323594 |
| 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 # |
R4331 (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: 95.7%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,111,880 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,993,184 (GRCm39) |
D4823N |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,760 (GRCm39) |
D178V |
probably damaging |
Het |
| Capn8 |
A |
T |
1: 182,432,019 (GRCm39) |
D330V |
probably damaging |
Het |
| Clec16a |
T |
C |
16: 10,389,533 (GRCm39) |
V200A |
probably benign |
Het |
| Fcrla |
C |
T |
1: 170,749,245 (GRCm39) |
R96Q |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,047,970 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,874,148 (GRCm39) |
S425T |
probably benign |
Het |
| Mthfsl |
A |
G |
9: 88,570,834 (GRCm39) |
V195A |
probably 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 |
| Plxna4 |
G |
A |
6: 32,127,480 (GRCm39) |
Q1876* |
probably null |
Het |
| Ramp1 |
C |
T |
1: 91,151,067 (GRCm39) |
T144I |
possibly damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,493,122 (GRCm39) |
Y375H |
probably damaging |
Het |
| Ssc5d |
G |
A |
7: 4,945,725 (GRCm39) |
G919D |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,364 (GRCm39) |
C245* |
probably null |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,495 (GRCm39) |
M429K |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
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 |
|
|
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