Incidental Mutation 'R1322:Sppl3'
| ID |
157710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl3
|
| Ensembl Gene |
ENSMUSG00000029550 |
| Gene Name |
signal peptide peptidase 3 |
| Synonyms |
4833416I09Rik, Usmg3 |
| MMRRC Submission |
039388-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.626)
|
| Stock # |
R1322 (G1)
|
| Quality Score |
207 |
|
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: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.5%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Col27a1 |
A |
C |
4: 63,246,803 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,528,415 (GRCm39) |
D815E |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gpr162 |
G |
T |
6: 124,835,864 (GRCm39) |
T512K |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,651,297 (GRCm39) |
S1155R |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,114,333 (GRCm39) |
V417A |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,732,418 (GRCm39) |
|
probably benign |
Het |
| Mecom |
G |
T |
3: 30,011,522 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,092,354 (GRCm39) |
T247A |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,786,817 (GRCm39) |
F65L |
possibly damaging |
Het |
| Polr1c |
T |
C |
17: 46,555,089 (GRCm39) |
K327R |
possibly damaging |
Het |
| Prpf39 |
A |
T |
12: 65,089,436 (GRCm39) |
N58I |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,712,837 (GRCm39) |
N92K |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,445,364 (GRCm39) |
F104S |
probably benign |
Het |
| Vmn2r88 |
T |
G |
14: 51,651,565 (GRCm39) |
I293S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,820 (GRCm39) |
T171A |
probably benign |
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 |
|
|
R1141:Sppl3
|
UTSW |
5 |
115,226,352 (GRCm39) |
frame shift |
probably null |
|
|
R1321: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 |
PCR Primer
(F):5'- GAATGCTGTGACCTACCTCACACC -3'
(R):5'- GCCAGGATGCCCATACATGACTAAG -3'
Sequencing Primer
(F):5'- ACCCTAGCAGGTCCTGGTG -3'
(R):5'- TCAATCACCTCAGACTGTCGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation