Mutagenetix > Incidental Mutation

Incidental Mutation 'R5607:Casp1'

439347

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

043271-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5607 (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 5303143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

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

AlphaFold

P29452

Predicted Effect

probably damaging
Transcript: ENSMUST00000027015
AA Change: V199A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: V199A

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

Meta Mutation Damage Score

0.8377

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.8%

Validation Efficiency

96% (54/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Ajap1	T	A	4: 153,516,661 (GRCm39)	T227S	possibly damaging	Het
Ankmy1	A	G	1: 92,804,740 (GRCm39)	F851S	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Cacna1e	T	A	1: 154,347,086 (GRCm39)	N1027I	probably benign	Het
Cacng4	A	T	11: 107,625,610 (GRCm39)	V327E	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Ctnna1	A	G	18: 35,382,795 (GRCm39)	D647G	probably benign	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Exoc6	T	A	19: 37,566,977 (GRCm39)	V258D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	A	1: 174,437,377 (GRCm39)	C1116Y	probably damaging	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Mcm6	T	C	1: 128,283,326 (GRCm39)	T60A	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Mmp14	T	C	14: 54,676,869 (GRCm39)	Y428H	probably damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Myo9a	T	C	9: 59,771,227 (GRCm39)	V933A	probably damaging	Het
Nepn	A	T	10: 52,277,233 (GRCm39)	D323V	probably benign	Het
Nrf1	C	T	6: 30,126,245 (GRCm39)	A150V	probably damaging	Het
Nxpe5	A	G	5: 138,238,033 (GRCm39)	T199A	probably benign	Het
Obscn	T	G	11: 59,013,674 (GRCm39)	K1150Q	probably benign	Het
Or12j5	A	C	7: 140,084,318 (GRCm39)	V18G	probably benign	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or7a38	A	G	10: 78,752,933 (GRCm39)	I86M	possibly damaging	Het
Or7e170	T	A	9: 19,795,272 (GRCm39)	M110L	probably benign	Het
Otop1	G	A	5: 38,451,848 (GRCm39)	G184S	possibly damaging	Het
Pkp2	G	T	16: 16,078,239 (GRCm39)	D494Y	probably damaging	Het
Pop5	G	A	5: 115,378,260 (GRCm39)	R68Q	probably damaging	Het
Ppp1r13b	T	C	12: 111,800,223 (GRCm39)	D518G	probably benign	Het
Preb	G	T	5: 31,117,307 (GRCm39)		probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rag1	G	A	2: 101,474,137 (GRCm39)	T335I	probably damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Sf3a3	A	T	4: 124,608,746 (GRCm39)	D20V	probably damaging	Het
Slco1b2	A	G	6: 141,631,312 (GRCm39)	N649D	probably benign	Het
Smarcal1	A	G	1: 72,625,372 (GRCm39)	D173G	probably benign	Het
Smg7	A	G	1: 152,718,985 (GRCm39)	L914P	probably damaging	Het
Tbc1d32	A	T	10: 56,005,246 (GRCm39)	S796T	possibly damaging	Het
Tex14	A	G	11: 87,413,404 (GRCm39)	T1052A	probably benign	Het
Tspan1	A	G	4: 116,021,277 (GRCm39)	V109A	possibly damaging	Het
Ttbk2	A	G	2: 120,637,305 (GRCm39)	V51A	possibly damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Ubr2	G	T	17: 47,245,126 (GRCm39)	C1633*	probably null	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Vmn2r25	T	C	6: 123,805,318 (GRCm39)	E513G	possibly damaging	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	probably damaging	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
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'- CAAGGTTGGTTTCTTGAAAGGACTAAG -3'
(R):5'- CCATGTTTGAATTTGACAGCCATG -3'

Sequencing Primer
(F):5'- TGAATTAAGCAAGGCTGTTCATTC -3'
(R):5'- GCCATGTCTAATATTATCGGTTAGTC -3'

Posted On

2016-10-26