Incidental Mutation 'R2655:Casp4'
| ID |
252666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp4
|
| Ensembl Gene |
ENSMUSG00000033538 |
| Gene Name |
caspase 4, apoptosis-related cysteine peptidase |
| Synonyms |
Casp11, Caspase-11, ich-3 |
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
5308828-5336783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5322894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 57
(L57I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027012]
[ENSMUST00000160064]
[ENSMUST00000162846]
|
| AlphaFold |
P70343 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027012
AA Change: L113I
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: L113I
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
92 |
7.63e-7 |
SMART |
|
CASc
|
121 |
371 |
5.72e-134 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159461
|
| SMART Domains |
Protein: ENSMUSP00000124535
Gene: ENSMUSG00000033538
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1dgna_
|
2 |
32 |
7e-7 |
SMART |
|
Blast:CARD
|
2 |
40 |
9e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160064
|
| SMART Domains |
Protein: ENSMUSP00000124249
Gene: ENSMUSG00000033538
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
1 |
89 |
4.7e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160521
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162846
AA Change: L57I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538
AA Change: L57I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CARD
|
2 |
36 |
2e-17 |
BLAST |
|
PDB:1IBC|A
|
18 |
94 |
6e-12 |
PDB |
|
SCOP:g1ibc.1
|
45 |
94 |
6e-15 |
SMART |
|
Blast:CASc
|
65 |
94 |
7e-13 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163086
|
| Meta Mutation Damage Score |
0.0763 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the cysteine proteases that plays important roles in apoptosis, cell migration and the inflammatory response. The encoded protein mediates production of pro-inflammatory cytokines by macrophages upon bacterial infection. Mice lacking the encoded protein are resistant to endotoxic shock induced by lipopolysaccharide. A 5-bp deletion encompassing a splice acceptor junction resulting in alternate splicing and a shorter non-functional isoform in certain mouse strains has been described. Although its official nomenclature is "caspase 4, apoptosis-related cysteine peptidase", this gene and its encoded protein have historically been called caspase 11. This gene is present in a cluster of three caspase genes on chromosome 9. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in decreased levels of serum IL-1alpha and IL-1beta. Mutant animals are resistant to septic shock after injection with LPS. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,597 (GRCm39) |
D252E |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Casp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02688:Casp4
|
APN |
9 |
5,322,844 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
BB007:Casp4
|
UTSW |
9 |
5,321,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB017:Casp4
|
UTSW |
9 |
5,321,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Casp4
|
UTSW |
9 |
5,328,518 (GRCm39) |
nonsense |
probably null |
|
|
R1562:Casp4
|
UTSW |
9 |
5,324,733 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1716:Casp4
|
UTSW |
9 |
5,308,919 (GRCm39) |
splice site |
probably null |
|
|
R2031:Casp4
|
UTSW |
9 |
5,321,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4207:Casp4
|
UTSW |
9 |
5,328,451 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4432:Casp4
|
UTSW |
9 |
5,323,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Casp4
|
UTSW |
9 |
5,328,580 (GRCm39) |
unclassified |
probably benign |
|
|
R5269:Casp4
|
UTSW |
9 |
5,321,521 (GRCm39) |
splice site |
probably benign |
|
|
R5399:Casp4
|
UTSW |
9 |
5,324,928 (GRCm39) |
nonsense |
probably null |
|
|
R5800:Casp4
|
UTSW |
9 |
5,308,915 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5895:Casp4
|
UTSW |
9 |
5,328,573 (GRCm39) |
unclassified |
probably benign |
|
|
R6582:Casp4
|
UTSW |
9 |
5,324,884 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7253:Casp4
|
UTSW |
9 |
5,324,868 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7426:Casp4
|
UTSW |
9 |
5,321,345 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7930:Casp4
|
UTSW |
9 |
5,321,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9550:Casp4
|
UTSW |
9 |
5,328,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Casp4
|
UTSW |
9 |
5,324,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGGGTCTCATTGTTGG -3'
(R):5'- TCCAAAGATATCAGCTCATGTCAAG -3'
Sequencing Primer
(F):5'- GCCATCTTAGTTGTACAATATCCTG -3'
(R):5'- AGATATTTTGATACCATGACTGCAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation