Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:Card9'

296360

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Card9

Ensembl Gene

ENSMUSG00000026928

Gene Name

caspase recruitment domain family, member 9

Synonyms

LOC332579

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

26242188-26250930 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 26244427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097876 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000028295] [ENSMUST00000100303]

AlphaFold

A2AIV8

Predicted Effect

probably benign
Transcript: ENSMUST00000028294

SMART Domains

Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	3.1e-21	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000028295

SMART Domains

Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

Domain	Start	End	E-Value	Type
low complexity region	38	67	N/A	INTRINSIC
Pfam:zf-DNL	74	139	4.1e-34	PFAM
low complexity region	158	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100303

SMART Domains

Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	7.1e-22	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153370

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one allele of this gene display impaired immune responses to fungal infection but normal rates of bacterial clearance. However, homozygotes for a second allele display impaired bacterial clearance and impaired early innate immune responses. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(5) Gene trapped(1)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,916 (GRCm39)	E189G	possibly damaging	Het
Acad11	T	C	9: 103,968,931 (GRCm39)		probably null	Het
Adcy7	G	T	8: 89,044,571 (GRCm39)	R488L	probably damaging	Het
Akt1	C	T	12: 112,625,714 (GRCm39)		probably benign	Het
Ano9	C	T	7: 140,682,167 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,953,820 (GRCm39)	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,585,456 (GRCm39)	V127D	probably benign	Het
Cacna1g	A	G	11: 94,319,955 (GRCm39)	M1407T	probably damaging	Het
Cdh5	A	G	8: 104,864,454 (GRCm39)	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,227,379 (GRCm39)	T343S	probably benign	Het
Cic	T	A	7: 24,990,282 (GRCm39)	C1928S	probably benign	Het
Clk3	C	T	9: 57,661,927 (GRCm39)	W31*	probably null	Het
Cntn4	A	G	6: 106,595,349 (GRCm39)	T489A	probably benign	Het
Crispld1	G	A	1: 17,826,529 (GRCm39)	R431H	probably damaging	Het
Crmp1	T	A	5: 37,436,199 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,218 (GRCm39)	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,736,198 (GRCm39)	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,757,507 (GRCm39)	N141D	probably damaging	Het
Dip2b	T	A	15: 100,055,162 (GRCm39)	L341Q	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fam227b	T	A	2: 125,845,831 (GRCm39)	Y386F	probably benign	Het
Fmn1	A	T	2: 113,355,640 (GRCm39)	T694S	unknown	Het
Gcnt2	T	A	13: 41,040,856 (GRCm39)	V5E	probably benign	Het
Herpud1	G	T	8: 95,121,270 (GRCm39)	E355*	probably null	Het
Igf1r	T	C	7: 67,843,144 (GRCm39)	S752P	probably benign	Het
Iqsec1	T	C	6: 90,649,057 (GRCm39)	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,409,110 (GRCm39)	S1598P	probably damaging	Het
Klk1b9	A	G	7: 43,445,063 (GRCm39)	E185G	probably benign	Het
Myo16	G	T	8: 10,440,217 (GRCm39)	R423L	probably damaging	Het
Myo7b	T	C	18: 32,100,207 (GRCm39)	E1609G	probably damaging	Het
Nom1	T	A	5: 29,644,814 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,727,480 (GRCm39)	I1040V	possibly damaging	Het
Or8b39	G	A	9: 37,996,741 (GRCm39)	G203D	probably damaging	Het
Paqr9	T	C	9: 95,442,748 (GRCm39)	V246A	probably benign	Het
Pfkfb4	A	T	9: 108,859,404 (GRCm39)	D437V	probably benign	Het
Phldb1	G	T	9: 44,622,223 (GRCm39)	D797E	probably benign	Het
Pkd1l3	A	G	8: 110,374,132 (GRCm39)	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,460,198 (GRCm39)	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,372,044 (GRCm39)	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,456,366 (GRCm39)	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 184,984,221 (GRCm39)		probably benign	Het
Rad23b	T	C	4: 55,382,511 (GRCm39)	V238A	probably benign	Het
Sel1l2	T	C	2: 140,117,380 (GRCm39)	T164A	possibly damaging	Het
Serpinh1	T	A	7: 98,996,199 (GRCm39)	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,453,687 (GRCm39)	E770G	probably benign	Het
Spag4	T	C	2: 155,911,142 (GRCm39)	L390P	probably damaging	Het
Stip1	A	G	19: 7,012,857 (GRCm39)		probably benign	Het
Tacr1	A	G	6: 82,380,739 (GRCm39)	N50S	probably damaging	Het
Tg	T	C	15: 66,613,443 (GRCm39)	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,276,493 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,909,738 (GRCm39)	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,308 (GRCm39)	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,335,232 (GRCm39)	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,095,965 (GRCm39)	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,330,297 (GRCm39)	F552I	probably damaging	Het
Zfp507	T	C	7: 35,475,891 (GRCm39)	I811V	probably damaging	Het
Zfp663	A	T	2: 165,195,871 (GRCm39)	V116D	probably benign	Het

Other mutations in Card9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01704:Card9	APN	2	26,246,874 (GRCm39)	missense	probably benign
IGL02397:Card9	APN	2	26,242,341 (GRCm39)	missense	probably damaging	1.00
IGL02536:Card9	APN	2	26,248,844 (GRCm39)	missense	possibly damaging	0.93
IGL02809:Card9	APN	2	26,246,876 (GRCm39)	missense	probably benign	0.01
IGL02962:Card9	APN	2	26,248,029 (GRCm39)	critical splice acceptor site	probably null
R1441:Card9	UTSW	2	26,249,402 (GRCm39)	missense	probably benign	0.01
R1585:Card9	UTSW	2	26,244,398 (GRCm39)	missense	probably benign	0.01
R1755:Card9	UTSW	2	26,249,546 (GRCm39)	missense	probably damaging	0.99
R1959:Card9	UTSW	2	26,244,885 (GRCm39)	critical splice acceptor site	probably null
R2972:Card9	UTSW	2	26,247,222 (GRCm39)	missense	probably damaging	1.00
R4007:Card9	UTSW	2	26,243,012 (GRCm39)	missense	possibly damaging	0.95
R4283:Card9	UTSW	2	26,247,309 (GRCm39)	missense	possibly damaging	0.77
R4789:Card9	UTSW	2	26,247,632 (GRCm39)	missense	probably damaging	0.99
R5381:Card9	UTSW	2	26,248,895 (GRCm39)	missense	probably damaging	1.00
R5933:Card9	UTSW	2	26,242,509 (GRCm39)	missense	probably damaging	1.00
R6379:Card9	UTSW	2	26,246,789 (GRCm39)	missense	probably damaging	1.00
R7008:Card9	UTSW	2	26,247,811 (GRCm39)	missense	possibly damaging	0.96
R7124:Card9	UTSW	2	26,246,896 (GRCm39)	critical splice acceptor site	probably null
R7131:Card9	UTSW	2	26,248,847 (GRCm39)	missense	probably damaging	1.00
R7171:Card9	UTSW	2	26,249,496 (GRCm39)	missense	possibly damaging	0.78
R7237:Card9	UTSW	2	26,246,787 (GRCm39)	missense	probably benign	0.00
R7984:Card9	UTSW	2	26,246,784 (GRCm39)	missense	probably benign	0.00
R8023:Card9	UTSW	2	26,247,327 (GRCm39)	missense	probably benign	0.00
R8312:Card9	UTSW	2	26,247,801 (GRCm39)	nonsense	probably null
R8672:Card9	UTSW	2	26,247,950 (GRCm39)	missense	probably benign	0.30
R9135:Card9	UTSW	2	26,242,397 (GRCm39)	missense	probably benign	0.00
R9273:Card9	UTSW	2	26,247,310 (GRCm39)	missense	probably damaging	0.96
R9577:Card9	UTSW	2	26,242,344 (GRCm39)	missense	probably damaging	1.00
R9626:Card9	UTSW	2	26,247,294 (GRCm39)	missense	probably benign	0.39
Z1176:Card9	UTSW	2	26,247,808 (GRCm39)	missense	probably damaging	1.00
Z1177:Card9	UTSW	2	26,247,563 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16