Incidental Mutation 'R1321:Sppl3'
| ID |
157679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sppl3
|
| Ensembl Gene |
ENSMUSG00000029550 |
| Gene Name |
signal peptide peptidase 3 |
| Synonyms |
4833416I09Rik, Usmg3 |
| MMRRC Submission |
039387-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.645)
|
| Stock # |
R1321 (G1)
|
| Quality Score |
168 |
|
Status
|
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: 98.8%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (41/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
G |
12: 72,945,318 (GRCm39) |
|
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,228,878 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
A |
2: 172,266,572 (GRCm39) |
L205Q |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,612,642 (GRCm39) |
C217F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,713,069 (GRCm39) |
D1834N |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,524,991 (GRCm39) |
C2723* |
probably null |
Het |
| Cps1 |
A |
G |
1: 67,182,178 (GRCm39) |
|
probably benign |
Het |
| Dolpp1 |
A |
G |
2: 30,285,748 (GRCm39) |
I49V |
possibly damaging |
Het |
| Dppa2 |
A |
G |
16: 48,131,999 (GRCm39) |
E32G |
possibly damaging |
Het |
| Eif2b5 |
C |
T |
16: 20,323,439 (GRCm39) |
R397* |
probably null |
Het |
| Far2 |
G |
T |
6: 148,075,034 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
C |
T |
4: 140,895,160 (GRCm39) |
T41I |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,988,606 (GRCm39) |
R476Q |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,639 (GRCm39) |
V39E |
probably benign |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21954 |
C |
T |
3: 55,379,627 (GRCm39) |
|
probably benign |
Het |
| Lct |
A |
C |
1: 128,227,759 (GRCm39) |
L1245V |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,314,362 (GRCm39) |
T192A |
probably damaging |
Het |
| Mrpl42 |
C |
T |
10: 95,329,573 (GRCm39) |
V46M |
probably damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,365,403 (GRCm39) |
V907M |
possibly damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,406,463 (GRCm39) |
Y127F |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,396,579 (GRCm39) |
S613P |
probably benign |
Het |
| P2ry12 |
T |
C |
3: 59,124,646 (GRCm39) |
E343G |
possibly damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,789,459 (GRCm39) |
K670T |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Reg3b |
A |
G |
6: 78,349,936 (GRCm39) |
|
probably null |
Het |
| Ssr2 |
T |
C |
3: 88,484,261 (GRCm39) |
|
probably benign |
Het |
| Syne3 |
A |
C |
12: 104,942,055 (GRCm39) |
V29G |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,187,434 (GRCm39) |
V3834A |
possibly damaging |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,500 (GRCm39) |
Q654* |
probably null |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,117 (GRCm39) |
V600I |
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
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 |
|
|
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 |
|
|
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 |
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