Mutagenetix > Incidental Mutation

Incidental Mutation 'R2877:Casp1'

260616

Institutional Source

Beutler Lab

Gene Symbol

Casp1

Ensembl Gene

ENSMUSG00000025888

Gene Name

caspase 1

Synonyms

Caspase-1, Il1bc, interleukin 1 beta-converting enzyme, ICE

MMRRC Submission

040465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298517-5307281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5303110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 188 (M188T)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027015]

AlphaFold

P29452

Predicted Effect

probably damaging
Transcript: ENSMUST00000027015
AA Change: M188T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: M188T

Domain	Start	End	E-Value	Type
CARD	4	89	4.91e-19	SMART
CASc	151	400	1.82e-136	SMART

Meta Mutation Damage Score

0.6167

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

96% (66/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,886,811 (GRCm39)		probably benign	Het
Abca13	C	T	11: 9,241,889 (GRCm39)	L1251F	possibly damaging	Het
Accsl	A	T	2: 93,689,755 (GRCm39)	M384K	probably damaging	Het
Adss1	A	C	12: 112,600,623 (GRCm39)	K197N	probably damaging	Het
Alg11	A	G	8: 22,555,374 (GRCm39)	N170D	possibly damaging	Het
Ambn	T	C	5: 88,608,559 (GRCm39)		probably benign	Het
Anapc7	T	C	5: 122,566,219 (GRCm39)	Y43H	probably benign	Het
Anxa10	T	A	8: 62,513,373 (GRCm39)	I255F	probably damaging	Het
Atg2b	A	T	12: 105,630,268 (GRCm39)	Y374*	probably null	Het
Axl	T	A	7: 25,465,949 (GRCm39)	M563L	probably damaging	Het
Carmil2	A	G	8: 106,422,055 (GRCm39)	E1108G	probably damaging	Het
Chd3	A	T	11: 69,251,998 (GRCm39)	C87*	probably null	Het
Col6a3	G	A	1: 90,703,321 (GRCm39)	T2475I	unknown	Het
Creb3l4	A	T	3: 90,149,615 (GRCm39)	S83R	probably damaging	Het
Cyp2a4	G	A	7: 26,011,612 (GRCm39)	E278K	possibly damaging	Het
Dync1li2	A	C	8: 105,156,047 (GRCm39)	Y265D	probably damaging	Het
Eif3f	G	A	7: 108,534,019 (GRCm39)		probably null	Het
Eipr1	C	T	12: 28,810,091 (GRCm39)	T22I	possibly damaging	Het
Fbxo48	A	G	11: 16,903,382 (GRCm39)	K3E	possibly damaging	Het
Fbxw13	A	G	9: 109,010,534 (GRCm39)	F368S	probably damaging	Het
Fbxw19	A	T	9: 109,315,038 (GRCm39)	W175R	probably damaging	Het
Fibcd1	G	A	2: 31,728,678 (GRCm39)	P60S	probably benign	Het
Foxa3	A	T	7: 18,748,805 (GRCm39)	M107K	probably benign	Het
Foxj2	G	A	6: 122,819,791 (GRCm39)	D560N	probably damaging	Het
Gfm2	A	G	13: 97,289,757 (GRCm39)	R181G	possibly damaging	Het
Gpr25	C	T	1: 136,188,553 (GRCm39)	G20D	possibly damaging	Het
Grin1	A	G	2: 25,187,641 (GRCm39)	V594A	probably damaging	Het
Itpripl1	A	G	2: 126,983,534 (GRCm39)	V196A	probably benign	Het
Kcns1	A	G	2: 164,006,682 (GRCm39)	I427T	probably damaging	Het
Kiz	T	C	2: 146,731,476 (GRCm39)	V322A	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Muc19	T	A	15: 91,777,200 (GRCm39)		noncoding transcript	Het
Naa16	A	G	14: 79,580,738 (GRCm39)	M592T	probably benign	Het
Naa80	A	T	9: 107,460,367 (GRCm39)	E87D	possibly damaging	Het
Ncapd3	T	A	9: 26,955,783 (GRCm39)		probably null	Het
Nebl	C	A	2: 17,439,740 (GRCm39)	D178Y	probably damaging	Het
Nedd1	T	A	10: 92,549,988 (GRCm39)	N99I	possibly damaging	Het
Nuak1	T	C	10: 84,211,209 (GRCm39)	D293G	possibly damaging	Het
Or5b123	A	T	19: 13,596,996 (GRCm39)	I157F	probably damaging	Het
Or5m9b	T	C	2: 85,905,675 (GRCm39)	M197T	possibly damaging	Het
Palb2	A	G	7: 121,713,652 (GRCm39)	V877A	probably damaging	Het
Rassf6	C	T	5: 90,754,664 (GRCm39)	V205I	probably damaging	Het
Rbak	A	G	5: 143,159,860 (GRCm39)	Y398H	probably damaging	Het
Rcbtb1	A	G	14: 59,448,041 (GRCm39)		probably benign	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,685,181 (GRCm39)	T317K	probably damaging	Het
Speer4e1	C	T	5: 14,987,130 (GRCm39)	V92M	probably damaging	Het
Syne2	A	G	12: 76,047,605 (GRCm39)	I4009V	probably benign	Het
Tarbp1	G	A	8: 127,154,571 (GRCm39)	L1474F	probably damaging	Het
Tchh	A	G	3: 93,351,535 (GRCm39)	E325G	unknown	Het
Trpc4	T	C	3: 54,198,761 (GRCm39)	S562P	probably damaging	Het
Ttn	T	C	2: 76,567,409 (GRCm39)	D27828G	probably damaging	Het
Ulk4	T	C	9: 121,089,105 (GRCm39)	D258G	probably benign	Het
Vmn1r215	A	G	13: 23,260,731 (GRCm39)	H257R	probably benign	Het
Vmn2r56	A	C	7: 12,444,954 (GRCm39)	M433R	probably benign	Het
Vmn2r76	C	A	7: 85,875,201 (GRCm39)	C592F	probably benign	Het
Zcchc8	C	T	5: 123,838,766 (GRCm39)	V591I	probably benign	Het
Znhit6	G	C	3: 145,282,409 (GRCm39)	G96A	probably benign	Het

Other mutations in Casp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Casp1	APN	9	5,299,872 (GRCm39)	splice site	probably benign
IGL00667:Casp1	APN	9	5,303,756 (GRCm39)	missense	probably benign	0.40
IGL01998:Casp1	APN	9	5,303,043 (GRCm39)	missense	probably damaging	1.00
IGL02248:Casp1	APN	9	5,299,452 (GRCm39)	missense	probably benign	0.01
IGL02469:Casp1	APN	9	5,303,105 (GRCm39)	missense	probably benign	0.19
P0027:Casp1	UTSW	9	5,299,851 (GRCm39)	missense	probably benign	0.00
PIT4305001:Casp1	UTSW	9	5,306,135 (GRCm39)	missense	probably benign	0.03
R0724:Casp1	UTSW	9	5,303,077 (GRCm39)	missense	probably benign
R1169:Casp1	UTSW	9	5,299,454 (GRCm39)	missense	possibly damaging	0.93
R1876:Casp1	UTSW	9	5,303,663 (GRCm39)	missense	probably benign	0.01
R2316:Casp1	UTSW	9	5,306,213 (GRCm39)	missense	possibly damaging	0.92
R2885:Casp1	UTSW	9	5,299,851 (GRCm39)	missense	probably benign	0.00
R4043:Casp1	UTSW	9	5,302,444 (GRCm39)	missense	probably benign
R4367:Casp1	UTSW	9	5,299,333 (GRCm39)	missense	probably benign	0.41
R4656:Casp1	UTSW	9	5,304,324 (GRCm39)	missense	probably damaging	1.00
R4705:Casp1	UTSW	9	5,306,204 (GRCm39)	missense	probably damaging	1.00
R4790:Casp1	UTSW	9	5,303,020 (GRCm39)	missense	probably benign	0.01
R4858:Casp1	UTSW	9	5,306,742 (GRCm39)	missense	probably damaging	1.00
R5607:Casp1	UTSW	9	5,303,143 (GRCm39)	missense	probably damaging	1.00
R5784:Casp1	UTSW	9	5,299,337 (GRCm39)	missense	probably damaging	0.98
R6578:Casp1	UTSW	9	5,304,280 (GRCm39)	missense	probably benign	0.04
R7111:Casp1	UTSW	9	5,299,816 (GRCm39)	missense	probably benign	0.01
R7215:Casp1	UTSW	9	5,298,523 (GRCm39)	splice site	probably null
R7590:Casp1	UTSW	9	5,306,710 (GRCm39)	missense	probably damaging	1.00
R8002:Casp1	UTSW	9	5,303,164 (GRCm39)	missense	possibly damaging	0.94
R8510:Casp1	UTSW	9	5,303,026 (GRCm39)	missense	probably damaging	1.00
R8902:Casp1	UTSW	9	5,299,333 (GRCm39)	missense	probably benign	0.41
R9234:Casp1	UTSW	9	5,303,128 (GRCm39)	missense	probably benign	0.04
R9471:Casp1	UTSW	9	5,304,187 (GRCm39)	missense	probably benign	0.13
R9747:Casp1	UTSW	9	5,299,322 (GRCm39)	missense	probably damaging	1.00
T0722:Casp1	UTSW	9	5,299,851 (GRCm39)	missense	probably benign	0.00
X0003:Casp1	UTSW	9	5,299,851 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTTGGTTTCTTGAAAGGACTAAG -3'
(R):5'- GGTTAGTCACCACAGAATATCACCAG -3'

Sequencing Primer
(F):5'- GTTTCTTGAAAGGACTAAGAAAAGC -3'
(R):5'- CAGTACAGAACTAGCAAGGCTTCTG -3'

Posted On

2015-01-23