Mutagenetix > Incidental Mutation

Incidental Mutation 'R2031:Casp4'

221240

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

040038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2031 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5308828-5336783 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5321401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 51 (S51G)

Ref Sequence

ENSEMBL: ENSMUSP00000124249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000160064] [ENSMUST00000162846]

AlphaFold

P70343

Predicted Effect

probably benign
Transcript: ENSMUST00000027012
AA Change: S51G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538
AA Change: S51G

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

unknown
Transcript: ENSMUST00000159461
AA Change: S1G

SMART Domains

Protein: ENSMUSP00000124535
Gene: ENSMUSG00000033538
AA Change: S1G

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
AA Change: S51G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124249
Gene: ENSMUSG00000033538
AA Change: S51G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (55/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	G	T	5: 121,639,118 (GRCm39)	N642K	possibly damaging	Het
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Aoc1l1	T	C	6: 48,952,789 (GRCm39)	V238A	probably damaging	Het
Arhgap28	G	T	17: 68,203,111 (GRCm39)	T114N	probably damaging	Het
Arid5b	A	G	10: 68,114,518 (GRCm39)		probably null	Het
Atp10a	T	A	7: 58,477,678 (GRCm39)	C1292*	probably null	Het
Cast	T	C	13: 74,946,771 (GRCm39)		probably null	Het
Ccdc87	T	C	19: 4,891,715 (GRCm39)	F736L	probably damaging	Het
Cdon	T	C	9: 35,415,370 (GRCm39)	S1203P	probably damaging	Het
Cep290	G	A	10: 100,348,262 (GRCm39)		probably null	Het
Cep85	A	G	4: 133,859,761 (GRCm39)	V634A	probably benign	Het
Cpeb3	C	T	19: 37,022,079 (GRCm39)	R589H	probably damaging	Het
Crebrf	T	G	17: 26,961,895 (GRCm39)	S331A	probably damaging	Het
Cul5	A	G	9: 53,578,480 (GRCm39)	V36A	probably benign	Het
Dock2	T	A	11: 34,618,297 (GRCm39)		probably benign	Het
Dstyk	G	A	1: 132,380,929 (GRCm39)	A475T	probably damaging	Het
Enpp6	C	A	8: 47,506,649 (GRCm39)	P151Q	probably damaging	Het
Fan1	A	G	7: 64,004,172 (GRCm39)	Y765H	probably damaging	Het
Hsfy2	A	T	1: 56,675,476 (GRCm39)	S354T	probably benign	Het
Ifi204	A	C	1: 173,580,343 (GRCm39)	F389C	probably damaging	Het
Ikbip	T	C	10: 90,932,474 (GRCm39)	Y373H	probably benign	Het
Kbtbd11	C	A	8: 15,078,021 (GRCm39)	P207T	possibly damaging	Het
Krt73	A	C	15: 101,707,199 (GRCm39)		probably benign	Het
Mfsd6	T	A	1: 52,748,013 (GRCm39)	Q284L	probably benign	Het
Mmp1b	T	A	9: 7,368,607 (GRCm39)	D415V	possibly damaging	Het
Mrc1	A	T	2: 14,326,584 (GRCm39)	T1161S	probably damaging	Het
Ms4a18	A	G	19: 10,991,014 (GRCm39)	S27P	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mycbp2	G	T	14: 103,426,028 (GRCm39)	R2366S	probably damaging	Het
Nfkbia	A	G	12: 55,537,937 (GRCm39)	L172P	probably damaging	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Or1d2	A	G	11: 74,255,777 (GRCm39)	Y94C	probably damaging	Het
Or2ag15	A	G	7: 106,341,105 (GRCm39)	F12S	probably damaging	Het
Or4c107	A	G	2: 88,789,643 (GRCm39)	T278A	probably benign	Het
Or51f1e	A	G	7: 102,747,371 (GRCm39)	Y141C	probably damaging	Het
Or5an10	A	T	19: 12,275,740 (GRCm39)	V252D	probably damaging	Het
Or5b112	T	C	19: 13,319,770 (GRCm39)	L216S	probably benign	Het
Parvb	A	T	15: 84,167,036 (GRCm39)	Y117F	probably benign	Het
Plch2	A	G	4: 155,127,484 (GRCm39)		probably benign	Het
Plxnb2	A	T	15: 89,047,013 (GRCm39)	C769*	probably null	Het
Plxnc1	G	T	10: 94,779,529 (GRCm39)	D304E	probably benign	Het
Prkg2	T	C	5: 99,172,310 (GRCm39)	D135G	possibly damaging	Het
Ptprb	A	G	10: 116,153,448 (GRCm39)	D635G	probably benign	Het
Rapgef6	T	G	11: 54,443,684 (GRCm39)	V89G	probably benign	Het
Ror2	T	A	13: 53,271,366 (GRCm39)	T330S	probably benign	Het
Ros1	A	G	10: 51,943,164 (GRCm39)	V2050A	possibly damaging	Het
Serpinb6e	T	C	13: 34,021,733 (GRCm39)		probably benign	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Smarca4	T	C	9: 21,597,358 (GRCm39)	V1371A	possibly damaging	Het
Syvn1	G	A	19: 6,100,560 (GRCm39)	R317H	probably damaging	Het
Tdo2	T	A	3: 81,876,812 (GRCm39)	D139V	probably damaging	Het
Tmem130	A	G	5: 144,689,236 (GRCm39)	V135A	possibly damaging	Het
Tpr	A	T	1: 150,317,870 (GRCm39)	Q2126L	probably benign	Het
Txlnb	A	G	10: 17,706,062 (GRCm39)	M324V	possibly damaging	Het
Ubxn10	A	G	4: 138,448,574 (GRCm39)	M34T	possibly damaging	Het
Vmn2r95	T	C	17: 18,659,717 (GRCm39)	W154R	possibly 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
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
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'- GCTCACAAAGACTAAGTTGATTCC -3'
(R):5'- ACCAAAGCAAGTGTTGGGC -3'

Sequencing Primer
(F):5'- GCTCTACCTGTTGTAGTTGAACAAG -3'
(R):5'- TGTTGGGCCTGAAAATCGAAC -3'

Posted On

2014-08-25