Mutagenetix > Incidental Mutation

Incidental Mutation 'R3706:Card11'

271767

Institutional Source

Beutler Lab

Gene Symbol

Card11

Ensembl Gene

ENSMUSG00000036526

Gene Name

caspase recruitment domain family, member 11

Synonyms

2410011D02Rik, BIMP3, CARMA1, 0610008L17Rik

MMRRC Submission

040699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3706 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140858745-140986337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140872890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 608 (R608C)

Ref Sequence

ENSEMBL: ENSMUSP00000082941 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085786
AA Change: R608C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: R608C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196169

Meta Mutation Damage Score

0.1923

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (41/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	A	12: 112,740,085 (GRCm39)	P523L	possibly damaging	Het
Ampd1	A	G	3: 102,995,627 (GRCm39)		probably benign	Het
Anxa10	T	A	8: 62,517,321 (GRCm39)	K167M	probably damaging	Het
Atp8b2	A	T	3: 89,852,459 (GRCm39)	F866I	probably damaging	Het
Atxn2	T	C	5: 121,923,931 (GRCm39)		probably null	Het
Cd4	T	C	6: 124,856,351 (GRCm39)	K47E	probably benign	Het
Cenpl	G	A	1: 160,905,985 (GRCm39)	V120M	probably damaging	Het
Cfap69	G	T	5: 5,663,843 (GRCm39)	Y461*	probably null	Het
Cplane1	T	C	15: 8,289,300 (GRCm39)	S2917P	unknown	Het
Crct1	C	A	3: 92,922,014 (GRCm39)		probably benign	Het
Ddx24	A	T	12: 103,383,675 (GRCm39)	V592E	probably damaging	Het
Dmc1	G	C	15: 79,446,782 (GRCm39)	P264A	probably damaging	Het
Donson	A	G	16: 91,483,049 (GRCm39)		probably benign	Het
Elovl5	C	A	9: 77,887,119 (GRCm39)	A170E	probably null	Het
Emilin1	A	G	5: 31,075,166 (GRCm39)	E469G	possibly damaging	Het
Fam178b	A	G	1: 36,647,529 (GRCm39)	Y235H	probably damaging	Het
Fgfr2	T	C	7: 129,800,161 (GRCm39)	T358A	probably benign	Het
Fpgs	A	T	2: 32,578,008 (GRCm39)	I138N	probably damaging	Het
Glb1l2	A	G	9: 26,682,316 (GRCm39)		probably benign	Het
Hspa4l	A	T	3: 40,736,125 (GRCm39)	N582I	possibly damaging	Het
Immt	T	C	6: 71,839,346 (GRCm39)	M226T	probably benign	Het
Kif21b	A	G	1: 136,087,148 (GRCm39)	N875S	probably benign	Het
Lama2	T	C	10: 27,014,992 (GRCm39)	D1572G	probably damaging	Het
Lelp1	A	C	3: 92,042,714 (GRCm39)	C112G	unknown	Het
Mctp2	A	G	7: 71,863,859 (GRCm39)		probably benign	Het
Mettl2	T	A	11: 105,030,552 (GRCm39)	I376N	probably benign	Het
Mycbp2	A	T	14: 103,393,850 (GRCm39)	S2904T	probably benign	Het
Nwd1	A	G	8: 73,393,744 (GRCm39)	T377A	possibly damaging	Het
Or10q1	T	A	19: 13,726,476 (GRCm39)	L2Q	probably benign	Het
Or5b12b	C	T	19: 12,861,260 (GRCm39)	T5I	probably damaging	Het
Pappa2	A	T	1: 158,662,488 (GRCm39)	Y1162*	probably null	Het
Phip	T	C	9: 82,782,796 (GRCm39)	E883G	probably benign	Het
Phox2b	T	C	5: 67,253,872 (GRCm39)		probably benign	Het
Pigc	T	A	1: 161,798,663 (GRCm39)	M215K	probably benign	Het
Rab11b	G	C	17: 33,966,740 (GRCm39)	H162D	probably benign	Het
Reln	T	C	5: 22,200,587 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,381,179 (GRCm39)	E551G	probably damaging	Het
Sucla2	A	G	14: 73,828,492 (GRCm39)	K336R	probably damaging	Het
Zfx	A	G	X: 93,142,413 (GRCm39)	V36A	possibly damaging	Het
Zim1	T	C	7: 6,680,290 (GRCm39)	I458V	probably damaging	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
IGL03255:Card11	APN	5	140,884,086 (GRCm39)	missense	possibly damaging	0.73
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
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

Predicted Primers

PCR Primer
(F):5'- GTCTTGGGTCCCATCCTTAAGC -3'
(R):5'- AGATCCCTGCATCTGGGTAC -3'

Sequencing Primer
(F):5'- GACACCACACCCAGATTTTTATGTGG -3'
(R):5'- ATTTAGCTCCATGCTGGG -3'

Posted On

2015-03-25