Mutagenetix > Incidental Mutation

Incidental Mutation 'R7215:Casp1'

568669

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

045287-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7215 (G1)

Quality Score

110.008

Status

Validated

Chromosome

Chromosomal Location

5298517-5307281 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5298523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

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

AlphaFold

P29452

Predicted Effect

probably null
Transcript: ENSMUST00000027015

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,471,690 (GRCm39)	V1032M	possibly damaging	Het
Abca13	T	A	11: 9,238,405 (GRCm39)		probably null	Het
Adamts14	T	A	10: 61,047,375 (GRCm39)	H739L	possibly damaging	Het
Adgrl3	A	G	5: 81,841,397 (GRCm39)	E758G	probably damaging	Het
Ano3	T	A	2: 110,496,277 (GRCm39)	T826S	probably damaging	Het
Arhgap45	C	T	10: 79,861,316 (GRCm39)	T493I	possibly damaging	Het
Atg9b	A	C	5: 24,593,039 (GRCm39)	W455G	probably damaging	Het
Atp4a	A	G	7: 30,416,785 (GRCm39)	N496S	possibly damaging	Het
Bckdk	T	A	7: 127,504,282 (GRCm39)	D60E	possibly damaging	Het
Blmh	A	T	11: 76,856,725 (GRCm39)	K244*	probably null	Het
Btbd17	T	C	11: 114,682,291 (GRCm39)	I474V	possibly damaging	Het
C87436	A	G	6: 86,439,662 (GRCm39)	E451G	possibly damaging	Het
Camta1	T	C	4: 151,229,194 (GRCm39)	E546G	probably damaging	Het
Ccdc116	A	G	16: 16,957,792 (GRCm39)	Y456H	probably damaging	Het
Cep350	A	C	1: 155,770,453 (GRCm39)	S1812R	possibly damaging	Het
Chrna10	A	G	7: 101,761,415 (GRCm39)	L392P	possibly damaging	Het
Col22a1	A	T	15: 71,842,181 (GRCm39)	C434*	probably null	Het
Cxcl9	G	A	5: 92,471,747 (GRCm39)	Q98*	probably null	Het
Cyp2c54	G	A	19: 40,034,626 (GRCm39)	T348I	probably damaging	Het
Dnah7a	G	A	1: 53,657,509 (GRCm39)	R756C	probably damaging	Het
Dnajc18	T	C	18: 35,815,034 (GRCm39)	T239A	probably benign	Het
Dnase2a	A	T	8: 85,636,399 (GRCm39)		probably null	Het
Dpyd	A	G	3: 119,059,681 (GRCm39)	T793A	probably benign	Het
Edil3	T	C	13: 88,970,169 (GRCm39)		probably null	Het
Ehd1	T	A	19: 6,347,672 (GRCm39)	I342N	possibly damaging	Het
Erbb4	A	T	1: 68,378,619 (GRCm39)	S341T	probably benign	Het
Ezh1	T	A	11: 101,106,125 (GRCm39)	T87S	probably benign	Het
Fam20b	A	T	1: 156,518,123 (GRCm39)	W224R	probably damaging	Het
Galns	A	T	8: 123,326,087 (GRCm39)		probably null	Het
Gm13283	C	T	4: 88,678,967 (GRCm39)		probably benign	Het
Gm49342	A	T	14: 51,182,040 (GRCm39)	M23L	probably benign	Het
Gm5114	T	A	7: 39,060,795 (GRCm39)	H18L	probably benign	Het
Gpr89	A	G	3: 96,787,404 (GRCm39)	W299R	probably damaging	Het
Hadha	G	T	5: 30,324,840 (GRCm39)	N755K	probably benign	Het
Inpp5d	A	T	1: 87,628,940 (GRCm39)	H620L	probably benign	Het
Klk1b3	T	A	7: 43,849,828 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,097 (GRCm39)	T663A	probably damaging	Het
Man1b1	A	G	2: 25,240,402 (GRCm39)	N601S	probably benign	Het
Mbtps1	A	G	8: 120,251,307 (GRCm39)	V605A	possibly damaging	Het
Med23	C	G	10: 24,764,327 (GRCm39)	D311E	probably benign	Het
Myo3a	G	T	2: 22,250,378 (GRCm39)	D82Y	possibly damaging	Het
Nsd1	T	A	13: 55,395,454 (GRCm39)	D1121E	probably benign	Het
Odad1	C	T	7: 45,586,046 (GRCm39)	R148C	probably damaging	Het
Or4c116	G	A	2: 88,942,845 (GRCm39)	Q4*	probably null	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or8b3b	A	G	9: 38,584,743 (GRCm39)	I12T	probably benign	Het
Otoa	T	C	7: 120,717,795 (GRCm39)	V19A	unknown	Het
Pcdhb20	A	T	18: 37,638,439 (GRCm39)	T322S	probably benign	Het
Pecam1	T	C	11: 106,586,745 (GRCm39)	T257A	probably benign	Het
Pi16	G	T	17: 29,538,072 (GRCm39)		probably benign	Het
Pik3c2g	C	T	6: 139,700,589 (GRCm39)	T293M		Het
Pira13	C	T	7: 3,825,310 (GRCm39)	C444Y	unknown	Het
Pkhd1l1	T	A	15: 44,391,559 (GRCm39)	C1542S	possibly damaging	Het
Prrc2b	G	A	2: 32,119,309 (GRCm39)	G2172R	probably damaging	Het
Prrt1	A	T	17: 34,848,677 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,174,681 (GRCm39)	N784K	possibly damaging	Het
Rem1	C	A	2: 152,470,069 (GRCm39)	S18R	probably damaging	Het
Ripk4	G	A	16: 97,548,523 (GRCm39)		probably null	Het
Scn8a	G	A	15: 100,927,711 (GRCm39)	V1397I	possibly damaging	Het
Setbp1	T	A	18: 78,900,052 (GRCm39)	H1205L	probably damaging	Het
Shmt1	T	C	11: 60,692,361 (GRCm39)	I132V	probably damaging	Het
Slc24a1	T	A	9: 64,835,785 (GRCm39)	T781S	unknown	Het
Sncaip	C	T	18: 53,040,415 (GRCm39)	Q870*	probably null	Het
Stab1	A	T	14: 30,882,754 (GRCm39)	N416K	possibly damaging	Het
Tcea1	A	G	1: 4,937,706 (GRCm39)	D26G	probably damaging	Het
Tcf20	A	T	15: 82,737,690 (GRCm39)	S1254T	probably benign	Het
Tead4	T	A	6: 128,205,641 (GRCm39)	I354F	probably damaging	Het
Tex36	G	A	7: 133,189,147 (GRCm39)	R142*	probably null	Het
Trav6d-3	T	A	14: 52,962,799 (GRCm39)	L12Q	probably damaging	Het
Trpc4	A	G	3: 54,102,317 (GRCm39)	T72A	possibly damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Tspoap1	T	A	11: 87,661,315 (GRCm39)	I589N	probably benign	Het
Ttll5	T	A	12: 85,980,170 (GRCm39)	V918E	probably benign	Het
Tut4	T	C	4: 108,384,205 (GRCm39)	Y1091H	probably damaging	Het
Txn2	A	G	15: 77,811,886 (GRCm39)		probably null	Het
Ucn3	T	G	13: 3,991,365 (GRCm39)	T96P	probably benign	Het
Usp36	T	C	11: 118,155,980 (GRCm39)	E764G	possibly damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vmn2r57	T	C	7: 41,049,710 (GRCm39)	T680A	probably benign	Het
Vwa3a	T	C	7: 120,394,853 (GRCm39)	I891T	possibly damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zhx2	A	G	15: 57,687,039 (GRCm39)	I803V	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
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
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
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'- GTATCCTTATCGACGATACTTATGC -3'
(R):5'- TCTTTTCTACACCGCAGAGC -3'

Sequencing Primer
(F):5'- GTTTGACAGTAGATGCACACCTCTG -3'
(R):5'- GAGCTACTGAAACTGAAAGCATATTG -3'

Posted On

2019-09-06