Incidental Mutation 'IGL02592:Sppl3'
| ID |
299757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sppl3
|
| Ensembl Gene |
ENSMUSG00000029550 |
| Gene Name |
signal peptide peptidase 3 |
| Synonyms |
4833416I09Rik, Usmg3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.645)
|
| Stock # |
IGL02592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115149204-115236849 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 115233970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 347
(V347M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031530]
[ENSMUST00000100848]
|
| AlphaFold |
Q9CUS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031530
AA Change: V347M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031530
Gene: ENSMUSG00000029550
AA Change: V347M
| 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: ENSMUST00000100848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128678
|
| Coding Region Coverage |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadps |
G |
A |
14: 12,473,465 (GRCm38) |
R899C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,258,248 (GRCm39) |
L82P |
probably benign |
Het |
| Cd53 |
C |
A |
3: 106,670,601 (GRCm39) |
C144F |
probably damaging |
Het |
| Fancc |
G |
A |
13: 63,508,011 (GRCm39) |
R175W |
probably damaging |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,511,231 (GRCm39) |
D256G |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,552,591 (GRCm39) |
M1189K |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 46,983,658 (GRCm39) |
C134S |
probably damaging |
Het |
| Mroh8 |
A |
T |
2: 157,058,889 (GRCm39) |
Y926N |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,671,572 (GRCm39) |
S896P |
probably benign |
Het |
| Orc4 |
A |
T |
2: 48,823,090 (GRCm39) |
|
probably null |
Het |
| Pcsk6 |
T |
A |
7: 65,618,776 (GRCm39) |
H447Q |
probably damaging |
Het |
| Rfx6 |
C |
A |
10: 51,592,119 (GRCm39) |
Q121K |
probably damaging |
Het |
| Rnase6 |
T |
C |
14: 51,367,982 (GRCm39) |
Y125H |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,538,872 (GRCm39) |
Y494N |
probably damaging |
Het |
| Tlr12 |
G |
A |
4: 128,511,479 (GRCm39) |
T257M |
probably benign |
Het |
| Tmem132e |
A |
T |
11: 82,325,462 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp345 |
A |
G |
2: 150,315,229 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp947 |
T |
A |
17: 22,365,233 (GRCm39) |
Q147L |
possibly 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 |
|
|
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 |
|
|
R1141:Sppl3
|
UTSW |
5 |
115,226,352 (GRCm39) |
frame shift |
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation