Incidental Mutation 'R6582:Casp4'
ID |
524166 |
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 |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6582 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
5308828-5336783 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5324884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 232
(Q232R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027012]
[ENSMUST00000160064]
[ENSMUST00000162846]
|
AlphaFold |
P70343 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027012
AA Change: Q232R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000027012 Gene: ENSMUSG00000033538 AA Change: Q232R
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 |
probably benign
Transcript: ENSMUST00000162846
|
SMART Domains |
Protein: ENSMUSP00000124402 Gene: ENSMUSG00000033538
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
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 |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Gzmk |
A |
G |
13: 113,317,045 (GRCm39) |
Y45H |
probably damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
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 |
|
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'- TGTCATCCCACTAACGAAGTC -3'
(R):5'- ACTTGGGGATTCTGGAAAAGTTC -3'
Sequencing Primer
(F):5'- AAGTCATCGATTTTTCCAGGGC -3'
(R):5'- CCAGGCAAATTTTTGTAATGGCAC -3'
|
Posted On |
2018-06-22 |