Mutagenetix > Incidental Mutation

Incidental Mutation 'R4656:Casp1'

352443

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

041916-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4656 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298517-5307281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5304324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 333 (P333S)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027012] [ENSMUST00000027015] [ENSMUST00000160064] [ENSMUST00000162846]

AlphaFold

P29452

Predicted Effect

probably benign
Transcript: ENSMUST00000027012

SMART Domains

Protein: ENSMUSP00000027012
Gene: ENSMUSG00000033538

Domain	Start	End	E-Value	Type
CARD	1	92	7.63e-7	SMART
CASc	121	371	5.72e-134	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000027015
AA Change: P333S

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

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: P333S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152651

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

Meta Mutation Damage Score

0.7396

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (80/83)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	G	A	5: 88,112,534 (GRCm39)		probably benign	Het
4931406B18Rik	T	A	7: 43,150,565 (GRCm39)	H69L	probably benign	Het
Ace2	T	C	X: 162,936,110 (GRCm39)	S84P	probably benign	Het
Adgb	A	C	10: 10,281,050 (GRCm39)	N656K	probably damaging	Het
Ago3	G	T	4: 126,257,545 (GRCm39)	Y495*	probably null	Het
Ahnak	G	A	19: 8,982,219 (GRCm39)	V1168M	possibly damaging	Het
Armc10	A	G	5: 21,866,548 (GRCm39)	R271G	probably benign	Het
Atp4a	T	G	7: 30,419,373 (GRCm39)		probably benign	Het
Ceacam9	C	T	7: 16,457,574 (GRCm39)	A34V	probably benign	Het
Ces1b	C	G	8: 93,784,042 (GRCm39)	E488Q	probably damaging	Het
Ces2h	A	T	8: 105,741,271 (GRCm39)	T88S	possibly damaging	Het
Cfap410	G	A	10: 77,817,450 (GRCm39)	R59H	probably benign	Het
Col2a1	C	T	15: 97,874,057 (GRCm39)	G1375D	unknown	Het
Cyp1a1	T	C	9: 57,609,893 (GRCm39)	F436L	probably damaging	Het
Dcaf7	T	C	11: 105,944,624 (GRCm39)	V269A	probably damaging	Het
Disp2	T	C	2: 118,621,044 (GRCm39)	L592P	probably damaging	Het
Eda2r	T	A	X: 96,385,239 (GRCm39)	Q171L	probably damaging	Het
Egln2	A	G	7: 26,858,618 (GRCm39)	V408A	probably benign	Het
Gabpb2	A	G	3: 95,096,252 (GRCm39)	L325P	probably damaging	Het
Gigyf1	C	A	5: 137,523,477 (GRCm39)	Y936*	probably null	Het
Gm14149	A	T	2: 151,072,684 (GRCm39)		noncoding transcript	Het
Gnl2	C	T	4: 124,934,790 (GRCm39)	Q149*	probably null	Het
Gpr107	C	T	2: 31,104,261 (GRCm39)	T522M	probably damaging	Het
Grpr	T	A	X: 162,297,992 (GRCm39)	S351C	probably damaging	Het
Gsdma	T	C	11: 98,563,907 (GRCm39)	L287P	probably damaging	Het
Herc1	A	G	9: 66,301,993 (GRCm39)	T652A	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Irx2	T	C	13: 72,779,417 (GRCm39)	S234P	probably damaging	Het
Itgal	T	A	7: 126,921,725 (GRCm39)	D808E	probably damaging	Het
Krt13	C	A	11: 100,010,189 (GRCm39)	R264L	probably damaging	Het
Marchf1	T	A	8: 66,839,071 (GRCm39)	L38I	probably benign	Het
Megf9	T	C	4: 70,367,004 (GRCm39)	H326R	probably damaging	Het
Mif4gd	G	T	11: 115,499,163 (GRCm39)		probably benign	Het
Mroh9	A	T	1: 162,893,593 (GRCm39)	M194K	probably damaging	Het
Nhlrc3	A	G	3: 53,370,501 (GRCm39)	S22P	probably damaging	Het
Nipal2	A	T	15: 34,577,714 (GRCm39)		probably null	Het
Nr1h4	A	G	10: 89,334,115 (GRCm39)	S78P	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Olfr908	A	T	9: 38,427,852 (GRCm39)	N175Y	probably damaging	Het
Or1e30	A	T	11: 73,678,337 (GRCm39)	D191V	probably damaging	Het
Or52d13	C	T	7: 103,109,695 (GRCm39)	R235Q	probably benign	Het
Pdzd2	A	G	15: 12,385,797 (GRCm39)	V991A	probably benign	Het
Pex1	G	A	5: 3,654,880 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,611,598 (GRCm39)	A859E	probably damaging	Het
Pramel32	T	C	4: 88,548,202 (GRCm39)	T68A	probably benign	Het
Ranbp2	A	G	10: 58,289,244 (GRCm39)	K84R	possibly damaging	Het
Rbm14	T	C	19: 4,861,463 (GRCm39)	Y25C	probably damaging	Het
Rmi2	A	G	16: 10,653,186 (GRCm39)	D78G	probably damaging	Het
Serpina3k	C	A	12: 104,311,532 (GRCm39)	T370K	probably damaging	Het
Shc2	A	T	10: 79,457,003 (GRCm39)	L538M	probably damaging	Het
Skint1	A	G	4: 111,878,674 (GRCm39)	K202R	probably damaging	Het
Slc22a29	C	A	19: 8,195,664 (GRCm39)	S125I	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,970 (GRCm39)	D297E	probably benign	Het
Slco6d1	T	C	1: 98,350,928 (GRCm39)	F136S	probably benign	Het
Smg1	A	T	7: 117,812,174 (GRCm39)	V39E	probably benign	Het
Spns1	G	T	7: 125,973,474 (GRCm39)		probably benign	Het
Spsb1	A	G	4: 149,990,867 (GRCm39)		probably null	Het
Sspo	T	G	6: 48,431,010 (GRCm39)	I631S	possibly damaging	Het
Syne2	T	C	12: 76,078,147 (GRCm39)	L4694P	probably damaging	Het
Taf5l	T	C	8: 124,724,844 (GRCm39)	E325G	probably benign	Het
Tars1	A	T	15: 11,394,350 (GRCm39)	S96T	probably damaging	Het
Tdrd12	T	C	7: 35,184,679 (GRCm39)	K745E	probably damaging	Het
Tenm3	A	G	8: 48,746,761 (GRCm39)	Y1015H	probably damaging	Het
Trpv3	T	A	11: 73,186,240 (GRCm39)	M677K	probably damaging	Het
Txlnb	A	T	10: 17,691,024 (GRCm39)	K191N	probably damaging	Het
Ubr1	A	G	2: 120,756,494 (GRCm39)	V711A	probably benign	Het
Uqcrb	T	C	13: 67,049,603 (GRCm39)	T41A	probably benign	Het
Usp6nl	A	G	2: 6,445,973 (GRCm39)	Y627C	probably damaging	Het
Vezf1	A	G	11: 87,965,493 (GRCm39)	D245G	probably damaging	Het
Vmn2r66	A	G	7: 84,661,204 (GRCm39)	W9R	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr35	T	A	12: 9,066,619 (GRCm39)	M749K	probably benign	Het
Wrn	A	T	8: 33,826,019 (GRCm39)		probably null	Het
Zfy1	T	G	Y: 729,626 (GRCm39)	T339P	unknown	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
R2877:Casp1	UTSW	9	5,303,110 (GRCm39)	missense	probably damaging	1.00
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
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'- TCAAGACAGCAATAATTCCCTTGG -3'
(R):5'- GCAAGGCCTTAAGGATATATTTGAG -3'

Sequencing Primer
(F):5'- GACAGCAATAATTCCCTTGGAAATTG -3'
(R):5'- GCCCTTGGTACTGTGAAAGCTC -3'

Posted On

2015-10-08