Mutagenetix > Incidental Mutation

Incidental Mutation 'R4043:Casp1'

313937

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

041615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5298517-5307281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5302444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 122 (D122G)

Ref Sequence

ENSEMBL: ENSMUSP00000027015 (fasta)

Gene Model

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

AlphaFold

P29452

Predicted Effect

probably benign
Transcript: ENSMUST00000027015
AA Change: D122G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: D122G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 92.9%

Validation Efficiency

97% (64/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,409,360 (GRCm39)	N44D	probably benign	Het
AU018091	A	G	7: 3,208,962 (GRCm39)	F375L	probably damaging	Het
Bsph1	G	T	7: 13,192,201 (GRCm39)		probably null	Het
Ccdc146	C	T	5: 21,521,941 (GRCm39)	C361Y	probably benign	Het
Cdc37l1	T	C	19: 28,968,028 (GRCm39)	S31P	possibly damaging	Het
Cdca2	A	T	14: 67,941,455 (GRCm39)	M249K	probably benign	Het
Cfap73	C	T	5: 120,768,030 (GRCm39)		probably null	Het
Cgnl1	A	G	9: 71,612,575 (GRCm39)	L749S	probably damaging	Het
Cmtr2	C	A	8: 110,948,462 (GRCm39)	C257*	probably null	Het
Col6a4	A	T	9: 105,949,610 (GRCm39)	L675*	probably null	Het
Cpne8	A	T	15: 90,456,204 (GRCm39)	D186E	probably damaging	Het
Csmd3	A	G	15: 47,619,362 (GRCm39)		probably null	Het
Daglb	T	A	5: 143,472,906 (GRCm39)	Y354N	possibly damaging	Het
Dlgap1	T	C	17: 71,068,075 (GRCm39)	S549P	probably damaging	Het
Dnah11	T	C	12: 117,843,678 (GRCm39)	D4389G	probably damaging	Het
Dst	T	A	1: 34,229,765 (GRCm39)	C2631S	probably benign	Het
Gimap1	T	A	6: 48,720,176 (GRCm39)	W263R	probably damaging	Het
Gne	A	C	4: 44,040,383 (GRCm39)	C594G	possibly damaging	Het
Gtf2a1	T	C	12: 91,542,441 (GRCm39)	H47R	probably benign	Het
Hdac6	T	C	X: 7,797,731 (GRCm39)	T993A	probably benign	Het
Helz2	T	C	2: 180,871,503 (GRCm39)	D2703G	probably benign	Het
Jmjd1c	G	A	10: 67,055,245 (GRCm39)	V222I	possibly damaging	Het
Katnip	A	G	7: 125,467,913 (GRCm39)	I1366V	probably benign	Het
Kndc1	A	G	7: 139,504,044 (GRCm39)	E1116G	probably benign	Het
Krt10	C	T	11: 99,277,819 (GRCm39)		probably null	Het
Lrrc37a	T	G	11: 103,389,479 (GRCm39)	H1982P	possibly damaging	Het
Med13l	T	A	5: 118,731,528 (GRCm39)	L68Q	probably damaging	Het
Megf10	C	A	18: 57,392,870 (GRCm39)	D422E	probably damaging	Het
Mpz	C	T	1: 170,987,340 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,361,215 (GRCm39)	T1508S	possibly damaging	Het
Myo3a	C	T	2: 22,338,350 (GRCm39)		probably benign	Het
Ndnf	A	T	6: 65,680,920 (GRCm39)	N400Y	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6p1	T	C	1: 174,258,657 (GRCm39)	I221T	probably damaging	Het
Or7g35	G	T	9: 19,496,291 (GRCm39)	V153F	probably benign	Het
Otol1	A	G	3: 69,935,112 (GRCm39)	D368G	probably damaging	Het
Pappa	A	G	4: 65,232,824 (GRCm39)	N1321S	probably benign	Het
Patl1	T	A	19: 11,920,314 (GRCm39)	L756Q	probably damaging	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Plekhg2	G	A	7: 28,064,144 (GRCm39)		probably benign	Het
Ppp2r2d	G	A	7: 138,484,145 (GRCm39)	W265*	probably null	Het
Ppp4r3c1	A	G	X: 88,975,909 (GRCm39)	F96S	probably damaging	Het
Prss40	G	T	1: 34,599,960 (GRCm39)	S9*	probably null	Het
Radil	T	A	5: 142,479,988 (GRCm39)	I471F	probably benign	Het
Radx	C	T	X: 138,407,752 (GRCm39)	S364L	probably damaging	Het
Rpl10l	A	T	12: 66,330,977 (GRCm39)	M52K	probably damaging	Het
Scn1a	A	T	2: 66,156,380 (GRCm39)	S510T	possibly damaging	Het
Sdad1	T	G	5: 92,450,553 (GRCm39)	N194T	probably damaging	Het
Sel1l3	A	T	5: 53,345,396 (GRCm39)	Y259*	probably null	Het
Slc22a26	T	C	19: 7,765,694 (GRCm39)		probably null	Het
Snap91	C	T	9: 86,659,102 (GRCm39)	G477D	probably damaging	Het
Spata6l	A	T	19: 28,923,183 (GRCm39)	C80S	possibly damaging	Het
Srr	T	C	11: 74,799,947 (GRCm39)	T202A	probably benign	Het
Srrm1	C	T	4: 135,068,242 (GRCm39)		probably benign	Het
Trp53bp2	T	A	1: 182,276,626 (GRCm39)	L869Q	possibly damaging	Het
Ttbk1	T	A	17: 46,757,688 (GRCm39)	D982V	probably benign	Het
Ttn	T	C	2: 76,624,501 (GRCm39)	T15324A	probably benign	Het
Ush1c	T	C	7: 45,870,952 (GRCm39)	E276G	probably damaging	Het
Vcan	T	A	13: 89,840,662 (GRCm39)	L1627F	probably benign	Het
Vps8	A	C	16: 21,345,146 (GRCm39)	D823A	probably damaging	Het
Zfp616	T	A	11: 73,976,108 (GRCm39)	N792K	possibly damaging	Het
Zfpm2	A	T	15: 40,734,023 (GRCm39)	D2V	possibly damaging	Het
Zfyve16	A	C	13: 92,650,271 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,195,765 (GRCm39)		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
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'- ATCCTCCATCACATCATTAGGG -3'
(R):5'- TTGCAACGAACTTGGCTATGAC -3'

Sequencing Primer
(F):5'- ACATCATTAGGGATCTCTCTGACTTG -3'
(R):5'- GAACTTGGCTATGACACAGAAC -3'

Posted On

2015-04-30