Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Casp9'

65643

Institutional Source

Beutler Lab

Gene Symbol

Casp9

Ensembl Gene

ENSMUSG00000028914

Gene Name

caspase 9

Synonyms

Caspase-9, Mch6, ICE-LAP6

MMRRC Submission

038565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0359 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

141520923-141543287 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141521221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 19 (E19G)

Ref Sequence

ENSEMBL: ENSMUSP00000121331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000038014] [ENSMUST00000097805] [ENSMUST00000153094] [ENSMUST00000153880]

AlphaFold

Q8C3Q9

Predicted Effect

probably benign
Transcript: ENSMUST00000030747
AA Change: E19G

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914
AA Change: E19G

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	453	4.64e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038014

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697

Domain	Start	End	E-Value	Type
DnaJ	28	85	4.5e-30	SMART
Pfam:Thioredoxin	142	243	4.4e-8	PFAM
low complexity region	537	549	N/A	INTRINSIC
low complexity region	730	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097805
AA Change: E19G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914
AA Change: E19G

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	402	6.58e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138359

Predicted Effect

probably damaging
Transcript: ENSMUST00000153094
AA Change: E19G

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

SMART Domains

Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914
AA Change: E19G

Domain	Start	End	E-Value	Type
CARD	1	90	3.83e-30	SMART
PDB:2AR9\|D	182	214	6e-10	PDB
Blast:CASc	189	215	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153880

SMART Domains

Protein: ENSMUSP00000120783
Gene: ENSMUSG00000040697

Domain	Start	End	E-Value	Type
DnaJ	28	85	4.5e-30	SMART

Meta Mutation Damage Score

0.1741

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, the initiator caspase, is activated after cytochrome c release from mitochondria and targets downstream effectors. In mouse, deficiency of this gene can cause perinatal lethality. This protein may have a role in normal brain development. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutants die perinatally with enlarged and malformed cerebrums caused by reduced apoptosis during brain development. Broad system- and stimulus-dependent effects are seen on apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Col6a4	T	A	9: 105,874,345 (GRCm39)	H2214L	probably benign	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Kpna2	A	G	11: 106,882,148 (GRCm39)	L226S	probably damaging	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or52n2	A	T	7: 104,542,521 (GRCm39)	F105I	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,441,915 (GRCm39)	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Sclt1	A	T	3: 41,616,005 (GRCm39)		probably null	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het

Other mutations in Casp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Casp9	APN	4	141,532,853 (GRCm39)	unclassified	probably benign
IGL02357:Casp9	APN	4	141,532,783 (GRCm39)	missense	probably benign	0.00
IGL02426:Casp9	APN	4	141,539,515 (GRCm39)	splice site	probably null
IGL03027:Casp9	APN	4	141,539,584 (GRCm39)	missense	probably benign	0.05
PIT4151001:Casp9	UTSW	4	141,521,259 (GRCm39)	nonsense	probably null
R0352:Casp9	UTSW	4	141,532,841 (GRCm39)	missense	probably damaging	0.98
R0374:Casp9	UTSW	4	141,534,484 (GRCm39)	missense	possibly damaging	0.81
R1465:Casp9	UTSW	4	141,533,151 (GRCm39)	missense	probably benign	0.00
R1465:Casp9	UTSW	4	141,533,151 (GRCm39)	missense	probably benign	0.00
R4660:Casp9	UTSW	4	141,540,934 (GRCm39)	missense	probably benign
R6020:Casp9	UTSW	4	141,523,849 (GRCm39)	missense	probably damaging	0.99
R6137:Casp9	UTSW	4	141,532,660 (GRCm39)	splice site	probably null
R6238:Casp9	UTSW	4	141,534,448 (GRCm39)	missense	probably damaging	1.00
R6289:Casp9	UTSW	4	141,534,496 (GRCm39)	missense	probably damaging	1.00
R7707:Casp9	UTSW	4	141,532,778 (GRCm39)	missense	probably benign
R8426:Casp9	UTSW	4	141,540,936 (GRCm39)	missense	probably damaging	1.00
R8438:Casp9	UTSW	4	141,540,934 (GRCm39)	missense	probably benign	0.31
R9287:Casp9	UTSW	4	141,534,471 (GRCm39)	missense	probably benign	0.01
X0023:Casp9	UTSW	4	141,540,914 (GRCm39)	missense	possibly damaging	0.56
Z1088:Casp9	UTSW	4	141,532,772 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGCTTGAATGCAGCGCCAGTG -3'
(R):5'- GCTTCAGAGAACCTCTCAGCGACC -3'

Sequencing Primer
(F):5'- GTGAGCGCGAGTCACAG -3'
(R):5'- TCTCAGCGACCTCCCAG -3'

Posted On

2013-08-08