Incidental Mutation 'R4432:Casp4'
| ID |
328659 |
| 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 |
041701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4432 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
5308828-5336783 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5323653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 74
(R74H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027012]
[ENSMUST00000160064]
[ENSMUST00000162846]
|
| AlphaFold |
P70343 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027012
AA Change: R130H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: R130H
| 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 |
silent
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 |
silent
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 |
probably damaging
Transcript: ENSMUST00000162846
AA Change: R74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124402
Gene: ENSMUSG00000033538
AA Change: R74H
| 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 |
0.5353 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,132,414 (GRCm39) |
M294V |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
| Acsm4 |
A |
C |
7: 119,310,610 (GRCm39) |
E499A |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
G |
A |
4: 47,044,905 (GRCm39) |
Q334* |
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,626,737 (GRCm39) |
I155L |
probably damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,427 (GRCm39) |
W298R |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,022,641 (GRCm39) |
N12D |
probably benign |
Het |
| Cibar2 |
C |
A |
8: 120,901,594 (GRCm39) |
R37L |
probably damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,041,596 (GRCm39) |
D380G |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,402,600 (GRCm39) |
|
probably benign |
Het |
| Dnm3 |
T |
C |
1: 161,819,566 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,175,456 (GRCm39) |
Y660H |
probably damaging |
Het |
| H6pd |
T |
G |
4: 150,080,215 (GRCm39) |
Y202S |
probably damaging |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,751 (GRCm39) |
K126R |
probably benign |
Het |
| Insc |
C |
T |
7: 114,368,290 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
G |
A |
11: 120,606,047 (GRCm39) |
|
probably null |
Het |
| Mapkap1 |
T |
C |
2: 34,509,875 (GRCm39) |
L263P |
probably damaging |
Het |
| Nmur1 |
A |
G |
1: 86,315,287 (GRCm39) |
S160P |
probably damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,078 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
| Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,421 (GRCm39) |
D196G |
probably damaging |
Het |
| Pcolce2 |
T |
C |
9: 95,563,610 (GRCm39) |
F199L |
probably damaging |
Het |
| Phf11c |
A |
T |
14: 59,628,384 (GRCm39) |
N88K |
possibly damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,694,463 (GRCm39) |
Y109F |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,424,460 (GRCm39) |
|
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,946,813 (GRCm39) |
D558G |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,880,109 (GRCm39) |
F263S |
probably benign |
Het |
| Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,757,323 (GRCm38) |
N520K |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,241,428 (GRCm39) |
S1679P |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,965,632 (GRCm39) |
I51F |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,412 (GRCm39) |
F173S |
possibly damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,482,918 (GRCm39) |
N19Y |
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 |
|
R2655:Casp4
|
UTSW |
9 |
5,322,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4207:Casp4
|
UTSW |
9 |
5,328,451 (GRCm39) |
missense |
probably benign |
0.15 |
|
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'- AGGGAACTTTGACTAGGTACTAAGG -3'
(R):5'- CAGTATAGGATGTTGCAGTGGC -3'
Sequencing Primer
(F):5'- TCTGTCTTTAGCCCTTGAGAAG -3'
(R):5'- AGTGGCTCTTACCTCTGCTGTAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation