Incidental Mutation 'R1141:Sppl3'
| ID |
102099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl3
|
| Ensembl Gene |
ENSMUSG00000029550 |
| Gene Name |
signal peptide peptidase 3 |
| Synonyms |
4833416I09Rik, Usmg3 |
| MMRRC Submission |
039214-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.626)
|
| Stock # |
R1141 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
115149204-115236849 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TGG to TG
at 115226352 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031530]
[ENSMUST00000128590]
|
| AlphaFold |
Q9CUS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031530
|
| SMART Domains |
Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
PSN
|
64 |
361 |
1.96e-102 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128590
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.0%
- 10x: 94.1%
- 20x: 84.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit growth retardation, decreased fertility and behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
A |
6: 86,942,458 (GRCm39) |
|
probably null |
Het |
| Asap2 |
A |
G |
12: 21,235,111 (GRCm39) |
N71S |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,711,215 (GRCm39) |
H331R |
probably benign |
Het |
| Brinp2 |
C |
A |
1: 158,074,840 (GRCm39) |
C427F |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,834 (GRCm39) |
Y13C |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,961 (GRCm39) |
D187G |
probably damaging |
Het |
| Clcn6 |
T |
G |
4: 148,098,356 (GRCm39) |
T556P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,227,777 (GRCm39) |
Q1968L |
possibly damaging |
Het |
| Elavl4 |
G |
A |
4: 110,108,565 (GRCm39) |
Q53* |
probably null |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,765,667 (GRCm39) |
H828R |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,219 (GRCm39) |
V397A |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,526,865 (GRCm39) |
I2241T |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,668,471 (GRCm39) |
V686M |
probably benign |
Het |
| Nfatc4 |
A |
T |
14: 56,070,088 (GRCm39) |
E752V |
probably damaging |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,326,809 (GRCm39) |
T1599A |
probably benign |
Het |
| Sft2d1rt |
G |
A |
11: 45,942,781 (GRCm39) |
A114V |
possibly damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Stx1b |
T |
C |
7: 127,410,098 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trim24 |
C |
T |
6: 37,892,228 (GRCm39) |
H254Y |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,637,332 (GRCm39) |
L42P |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,334,673 (GRCm39) |
T329I |
possibly damaging |
Het |
| Zfp174 |
T |
A |
16: 3,667,321 (GRCm39) |
I170N |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,346,655 (GRCm39) |
L22Q |
probably damaging |
Het |
|
| Other mutations in Sppl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Sppl3
|
APN |
5 |
115,212,935 (GRCm39) |
missense |
probably benign |
|
|
IGL02302:Sppl3
|
APN |
5 |
115,220,390 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02381:Sppl3
|
APN |
5 |
115,212,969 (GRCm39) |
splice site |
probably null |
|
|
IGL02592:Sppl3
|
APN |
5 |
115,233,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Sppl3
|
APN |
5 |
115,199,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0119:Sppl3
|
UTSW |
5 |
115,227,053 (GRCm39) |
unclassified |
probably benign |
|
|
R0299:Sppl3
|
UTSW |
5 |
115,227,053 (GRCm39) |
unclassified |
probably benign |
|
|
R0827:Sppl3
|
UTSW |
5 |
115,220,392 (GRCm39) |
nonsense |
probably null |
|
|
R1321:Sppl3
|
UTSW |
5 |
115,226,352 (GRCm39) |
frame shift |
probably null |
|
|
R1322:Sppl3
|
UTSW |
5 |
115,226,352 (GRCm39) |
frame shift |
probably null |
|
|
R1451:Sppl3
|
UTSW |
5 |
115,226,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Sppl3
|
UTSW |
5 |
115,212,923 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3112:Sppl3
|
UTSW |
5 |
115,212,923 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4701:Sppl3
|
UTSW |
5 |
115,241,372 (GRCm39) |
splice site |
probably null |
|
|
R4808:Sppl3
|
UTSW |
5 |
115,221,485 (GRCm39) |
splice site |
probably benign |
|
|
R4931:Sppl3
|
UTSW |
5 |
115,220,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6513:Sppl3
|
UTSW |
5 |
115,233,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Sppl3
|
UTSW |
5 |
115,220,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7326:Sppl3
|
UTSW |
5 |
115,220,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7384:Sppl3
|
UTSW |
5 |
115,199,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9012:Sppl3
|
UTSW |
5 |
115,226,987 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9257:Sppl3
|
UTSW |
5 |
115,221,532 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9258:Sppl3
|
UTSW |
5 |
115,233,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Sppl3
|
UTSW |
5 |
115,212,922 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation