Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03255:Card11'

414624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Card11

Ensembl Gene

ENSMUSG00000036526

Gene Name

caspase recruitment domain family, member 11

Synonyms

2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03255

Quality Score

Status

Chromosome

Chromosomal Location

140858745-140986337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140884086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 398 (I398V)

Ref Sequence

ENSEMBL: ENSMUSP00000082941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085786]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085786
AA Change: I398V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: I398V

Domain	Start	End	E-Value	Type
Pfam:CARD	23	109	1.3e-23	PFAM
coiled coil region	176	440	N/A	INTRINSIC
low complexity region	475	487	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC
low complexity region	615	625	N/A	INTRINSIC
PDZ	674	755	2.73e-1	SMART
Blast:SH3	776	838	1e-10	BLAST
low complexity region	839	850	N/A	INTRINSIC
low complexity region	920	934	N/A	INTRINSIC
SCOP:d1kjwa2	970	1149	1e-18	SMART
Blast:GuKc	973	1139	1e-102	BLAST

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 belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit defects in antigen receptor signalling in both T and B lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,796,921 (GRCm39)		noncoding transcript	Het
Alpk3	A	G	7: 80,742,310 (GRCm39)	D709G	probably benign	Het
Capn3	G	T	2: 120,320,189 (GRCm39)	R309L	probably damaging	Het
Cps1	T	A	1: 67,184,960 (GRCm39)	Y162*	probably null	Het
Defa26	A	T	8: 22,108,257 (GRCm39)	D20V	probably damaging	Het
Defa39	T	C	8: 22,193,534 (GRCm39)	T29A	possibly damaging	Het
Dnah8	T	G	17: 30,960,355 (GRCm39)	L2244R	probably damaging	Het
Fhad1	T	A	4: 141,700,191 (GRCm39)	N353I	possibly damaging	Het
Flt1	T	A	5: 147,525,331 (GRCm39)		probably benign	Het
Glyr1	G	A	16: 4,866,621 (GRCm39)		probably null	Het
Gm10220	A	G	5: 26,321,899 (GRCm39)	S258P	possibly damaging	Het
Lama3	A	T	18: 12,672,760 (GRCm39)	D845V	probably damaging	Het
Myh2	T	A	11: 67,084,051 (GRCm39)	L1558Q	probably damaging	Het
Nelfb	G	T	2: 25,093,207 (GRCm39)	H482N	probably benign	Het
Or5ae1	T	C	7: 84,565,725 (GRCm39)	L246P	possibly damaging	Het
Or5p58	A	G	7: 107,694,024 (GRCm39)	V251A	probably damaging	Het
Ppfia2	A	G	10: 106,732,368 (GRCm39)	T972A	possibly damaging	Het
Slc5a4a	G	A	10: 75,986,346 (GRCm39)	V85M	probably damaging	Het
Slc6a12	T	G	6: 121,331,246 (GRCm39)	C166G	probably damaging	Het
Tm7sf3	T	C	6: 146,507,618 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,682,894 (GRCm39)		probably benign	Het
Tmod2	T	C	9: 75,484,540 (GRCm39)		probably benign	Het
Tmprss11c	T	A	5: 86,419,341 (GRCm39)	I73F	probably damaging	Het
Vmn1r10	A	G	6: 57,090,911 (GRCm39)	M168V	probably benign	Het
Vmn2r77	T	A	7: 86,461,131 (GRCm39)	M819K	probably benign	Het
Vmo1	C	T	11: 70,405,236 (GRCm39)		probably null	Het
Ywhab	A	G	2: 163,855,936 (GRCm39)	D104G	probably benign	Het

Other mutations in Card11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
unmodulated	APN	5	140,897,997 (GRCm38)	intron	probably benign
IGL00961:Card11	APN	5	140,885,464 (GRCm39)	missense	probably damaging	0.97
IGL01645:Card11	APN	5	140,863,778 (GRCm39)	missense	probably benign	0.00
IGL01731:Card11	APN	5	140,868,057 (GRCm39)	missense	possibly damaging	0.89
IGL01782:Card11	APN	5	140,913,481 (GRCm39)	start codon destroyed	probably null	0.02
IGL01935:Card11	APN	5	140,869,301 (GRCm39)	missense	possibly damaging	0.62
IGL01991:Card11	APN	5	140,899,133 (GRCm39)	missense	possibly damaging	0.63
IGL02447:Card11	APN	5	140,892,679 (GRCm39)	missense	possibly damaging	0.93
IGL02583:Card11	APN	5	140,863,881 (GRCm39)	missense	probably benign	0.10
Ace	UTSW	5	140,888,632 (GRCm39)	missense	possibly damaging	0.70
Caravaggio	UTSW	5	140,899,064 (GRCm39)	missense	probably damaging	1.00
Dealer	UTSW	5	140,871,632 (GRCm39)	missense	probably damaging	1.00
Dogs	UTSW	5	140,867,755 (GRCm39)	critical splice donor site	probably null
Face	UTSW	5	140,886,732 (GRCm39)	missense	probably damaging	1.00
hubei	UTSW	5	140,892,522 (GRCm39)	missense	probably damaging	0.96
king	UTSW	5	140,876,835 (GRCm39)	splice site	probably benign
may	UTSW	5	140,862,250 (GRCm39)	nonsense	probably null
Poker	UTSW	5	140,863,837 (GRCm39)	missense	probably benign
Sharp	UTSW	5	140,862,180 (GRCm39)	missense	possibly damaging	0.93
Tumnus	UTSW	5	140,871,700 (GRCm39)	missense	possibly damaging	0.75
unmodulated2	UTSW	5	140,869,537 (GRCm39)	splice site	probably null
PIT4243001:Card11	UTSW	5	140,894,359 (GRCm39)	missense	possibly damaging	0.95
PIT4486001:Card11	UTSW	5	140,862,163 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Card11	UTSW	5	140,892,415 (GRCm39)	missense	probably damaging	0.99
R0046:Card11	UTSW	5	140,894,279 (GRCm39)	missense	possibly damaging	0.92
R0285:Card11	UTSW	5	140,872,856 (GRCm39)	missense	probably damaging	1.00
R0452:Card11	UTSW	5	140,866,125 (GRCm39)	missense	probably benign	0.01
R1486:Card11	UTSW	5	140,862,274 (GRCm39)	missense	probably benign
R1710:Card11	UTSW	5	140,888,660 (GRCm39)	nonsense	probably null
R1733:Card11	UTSW	5	140,892,388 (GRCm39)	missense	possibly damaging	0.88
R1817:Card11	UTSW	5	140,871,315 (GRCm39)	missense	probably benign	0.00
R1818:Card11	UTSW	5	140,871,315 (GRCm39)	missense	probably benign	0.00
R2027:Card11	UTSW	5	140,892,522 (GRCm39)	missense	probably damaging	0.96
R2436:Card11	UTSW	5	140,868,117 (GRCm39)	missense	possibly damaging	0.89
R2904:Card11	UTSW	5	140,874,888 (GRCm39)	missense	probably benign	0.09
R3706:Card11	UTSW	5	140,872,890 (GRCm39)	missense	probably damaging	0.99
R3708:Card11	UTSW	5	140,872,890 (GRCm39)	missense	probably damaging	0.99
R4778:Card11	UTSW	5	140,869,537 (GRCm39)	splice site	probably null
R4877:Card11	UTSW	5	140,871,632 (GRCm39)	missense	probably damaging	1.00
R4889:Card11	UTSW	5	140,871,700 (GRCm39)	missense	possibly damaging	0.75
R4910:Card11	UTSW	5	140,860,169 (GRCm39)	missense	probably damaging	1.00
R5011:Card11	UTSW	5	140,862,275 (GRCm39)	missense	possibly damaging	0.93
R5257:Card11	UTSW	5	140,862,180 (GRCm39)	missense	possibly damaging	0.93
R5258:Card11	UTSW	5	140,862,180 (GRCm39)	missense	possibly damaging	0.93
R5682:Card11	UTSW	5	140,888,666 (GRCm39)	nonsense	probably null
R5754:Card11	UTSW	5	140,885,524 (GRCm39)	missense	probably damaging	0.99
R5873:Card11	UTSW	5	140,894,393 (GRCm39)	missense	probably damaging	1.00
R6184:Card11	UTSW	5	140,884,033 (GRCm39)	missense	probably damaging	1.00
R6792:Card11	UTSW	5	140,899,064 (GRCm39)	missense	probably damaging	1.00
R6825:Card11	UTSW	5	140,863,837 (GRCm39)	missense	probably benign
R7008:Card11	UTSW	5	140,859,148 (GRCm39)	missense	probably damaging	1.00
R7291:Card11	UTSW	5	140,886,825 (GRCm39)	missense	probably damaging	1.00
R7376:Card11	UTSW	5	140,883,993 (GRCm39)	missense	probably benign	0.01
R7526:Card11	UTSW	5	140,899,184 (GRCm39)	splice site	probably null
R7683:Card11	UTSW	5	140,881,781 (GRCm39)	missense	probably benign
R7730:Card11	UTSW	5	140,871,751 (GRCm39)	missense	probably damaging	0.96
R7813:Card11	UTSW	5	140,885,419 (GRCm39)	missense	probably damaging	1.00
R7831:Card11	UTSW	5	140,859,167 (GRCm39)	missense	possibly damaging	0.61
R7911:Card11	UTSW	5	140,867,755 (GRCm39)	critical splice donor site	probably null
R8154:Card11	UTSW	5	140,886,732 (GRCm39)	missense	probably damaging	1.00
R8224:Card11	UTSW	5	140,888,632 (GRCm39)	missense	possibly damaging	0.70
R8272:Card11	UTSW	5	140,875,794 (GRCm39)	missense	probably damaging	1.00
R8714:Card11	UTSW	5	140,899,147 (GRCm39)	missense	possibly damaging	0.67
R8715:Card11	UTSW	5	140,871,315 (GRCm39)	missense	probably benign	0.00
R9065:Card11	UTSW	5	140,894,297 (GRCm39)	missense	probably damaging	1.00
R9211:Card11	UTSW	5	140,869,375 (GRCm39)	missense	probably benign	0.16
R9215:Card11	UTSW	5	140,866,154 (GRCm39)	missense	possibly damaging	0.64
R9269:Card11	UTSW	5	140,892,516 (GRCm39)	missense	probably damaging	0.99
R9385:Card11	UTSW	5	140,871,276 (GRCm39)	missense	probably benign	0.44
R9421:Card11	UTSW	5	140,869,462 (GRCm39)	missense	probably damaging	0.97
R9424:Card11	UTSW	5	140,894,395 (GRCm39)	missense	probably damaging	1.00
R9444:Card11	UTSW	5	140,894,393 (GRCm39)	missense	probably damaging	1.00
V7732:Card11	UTSW	5	140,862,250 (GRCm39)	nonsense	probably null
X0067:Card11	UTSW	5	140,871,347 (GRCm39)	missense	possibly damaging	0.60
Z1177:Card11	UTSW	5	140,883,996 (GRCm39)	missense	probably benign	0.43

Posted On

2016-08-02