Mutagenetix > Incidental Mutations

Incidental Mutation 'R1169:Casp1'

101501

Institutional Source

Beutler Lab

Gene Symbol

Casp1

Ensembl Gene

ENSMUSG00000025888

Gene Name

caspase 1

Synonyms

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

MMRRC Submission

039242-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5298517-5307265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5299454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 61 (V61A)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

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

AlphaFold

P29452

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027015
AA Change: V61A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: V61A

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	A	G	2: 23,256,982	K275E	possibly damaging	Het
Abhd17a	T	C	10: 80,583,947	E275G	probably damaging	Het
Adam10	T	A	9: 70,746,292	I123N	probably damaging	Het
Adam8	A	T	7: 139,983,929	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,494,116	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,454,252	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468	S389P	possibly damaging	Het
C4b	A	T	17: 34,742,972	L100Q	probably benign	Het
Cacul1	G	A	19: 60,580,408	A104V	probably damaging	Het
Camsap3	T	C	8: 3,603,866	F512S	probably damaging	Het
Chd1	T	A	17: 15,735,732	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,674,795	Q156*	probably null	Het
Clip2	T	A	5: 134,492,250	E978V	probably benign	Het
Cnpy2	T	G	10: 128,323,596	L34R	probably damaging	Het
Cog6	A	T	3: 53,013,844	C114S	probably benign	Het
Col6a3	A	T	1: 90,822,014	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,896,974		probably null	Het
Dmbt1	G	A	7: 131,074,524		probably null	Het
Dok1	A	G	6: 83,032,048	F218L	possibly damaging	Het
Dph7	T	A	2: 24,966,571	N178K	probably benign	Het
Enam	A	T	5: 88,503,258	E800D	probably damaging	Het
Fads3	A	T	19: 10,054,099	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,155,976	H265R	probably benign	Het
Gli1	T	A	10: 127,338,451	S24C	probably damaging	Het
Gm4894	T	A	9: 49,274,226	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,574,366	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,333,357	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,498,124	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,705,108	F285C	probably benign	Het
Igf1r	G	T	7: 68,165,127	V259L	probably benign	Het
Igf2bp2	A	T	16: 22,078,730	Y244*	probably null	Het
Ighg2c	A	T	12: 113,285,952		probably benign	Het
Ighv8-14	A	T	12: 115,808,455		probably null	Het
Iqsec2	A	G	X: 152,144,731	S87G	probably benign	Het
Itsn2	A	G	12: 4,639,694	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,350,271	E38D	possibly damaging	Het
Krt42	T	G	11: 100,263,345		probably null	Het
Lman1l	T	C	9: 57,609,995	T369A	probably damaging	Het
Lpo	T	C	11: 87,817,317	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,900,930	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,083,264	D99V	probably damaging	Het
Lyplal1	T	C	1: 186,114,334	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,143,283	Q793*	probably null	Het
Myh10	T	G	11: 68,762,841	M346R	probably damaging	Het
Nav1	G	T	1: 135,455,205	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,968,323	V1642A	probably benign	Het
Olfr1066	A	G	2: 86,455,587	I228T	possibly damaging	Het
Olfr1104	A	G	2: 87,021,717	F276L	probably damaging	Het
Olfr1428	C	T	19: 12,109,489	R19H	probably benign	Het
Olfr870	T	C	9: 20,171,058	N171S	probably benign	Het
Orm3	G	A	4: 63,357,848	V166M	probably damaging	Het
Oxct1	T	A	15: 4,091,226	I264N	probably damaging	Het
Paox	G	A	7: 140,126,331	V55I	probably benign	Het
Pde4d	C	A	13: 109,950,928		probably null	Het
Pnliprp1	A	G	19: 58,734,951	N258S	probably damaging	Het
Prl7b1	C	A	13: 27,606,904	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,667,612	C261F	probably benign	Het
Rho	C	G	6: 115,932,238	N78K	probably damaging	Het
Rnf17	A	G	14: 56,514,165	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,733,014	T2922I	probably benign	Het
Saxo2	A	C	7: 82,635,171	F160V	possibly damaging	Het
Sbf2	A	T	7: 110,310,184	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,298,233	V280E	probably benign	Het
Sgsm1	T	C	5: 113,279,485	D90G	probably damaging	Het
Siglec1	A	T	2: 131,074,827	D1169E	probably damaging	Het
Sim1	T	A	10: 50,981,522	V456E	probably benign	Het
Skint8	T	A	4: 111,928,513	I52N	possibly damaging	Het
Slc27a1	C	A	8: 71,580,653	R280S	probably benign	Het
Slc9a3	G	A	13: 74,150,743	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,027,925	V936L	possibly damaging	Het
Syce1	A	G	7: 140,778,207	F255S	probably benign	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem200a	T	A	10: 25,994,348	I8F	probably damaging	Het
Trip6	T	C	5: 137,311,920	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,751,309	N177K	probably benign	Het
Wdr66	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,254,610		probably benign	Het

Other mutations in Casp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Casp1	APN	9	5299872	splice site	probably benign
IGL00667:Casp1	APN	9	5303756	missense	probably benign	0.40
IGL01998:Casp1	APN	9	5303043	missense	probably damaging	1.00
IGL02248:Casp1	APN	9	5299452	missense	probably benign	0.01
IGL02469:Casp1	APN	9	5303105	missense	probably benign	0.19
P0027:Casp1	UTSW	9	5299851	missense	probably benign	0.00
PIT4305001:Casp1	UTSW	9	5306135	missense	probably benign	0.03
R0724:Casp1	UTSW	9	5303077	missense	probably benign
R1876:Casp1	UTSW	9	5303663	missense	probably benign	0.01
R2316:Casp1	UTSW	9	5306213	missense	possibly damaging	0.92
R2877:Casp1	UTSW	9	5303110	missense	probably damaging	1.00
R2885:Casp1	UTSW	9	5299851	missense	probably benign	0.00
R4043:Casp1	UTSW	9	5302444	missense	probably benign
R4367:Casp1	UTSW	9	5299333	missense	probably benign	0.41
R4656:Casp1	UTSW	9	5304324	missense	probably damaging	1.00
R4705:Casp1	UTSW	9	5306204	missense	probably damaging	1.00
R4790:Casp1	UTSW	9	5303020	missense	probably benign	0.01
R4858:Casp1	UTSW	9	5306742	missense	probably damaging	1.00
R5607:Casp1	UTSW	9	5303143	missense	probably damaging	1.00
R5784:Casp1	UTSW	9	5299337	missense	probably damaging	0.98
R6578:Casp1	UTSW	9	5304280	missense	probably benign	0.04
R7111:Casp1	UTSW	9	5299816	missense	probably benign	0.01
R7215:Casp1	UTSW	9	5298523	splice site	probably null
R7590:Casp1	UTSW	9	5306710	missense	probably damaging	1.00
R8002:Casp1	UTSW	9	5303164	missense	possibly damaging	0.94
R8510:Casp1	UTSW	9	5303026	missense	probably damaging	1.00
R8902:Casp1	UTSW	9	5299333	missense	probably benign	0.41
R9234:Casp1	UTSW	9	5303128	missense	probably benign	0.04
T0722:Casp1	UTSW	9	5299851	missense	probably benign	0.00
X0003:Casp1	UTSW	9	5299851	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15