Mutagenetix > Incidental Mutation

Incidental Mutation 'R9421:Card11'

712330

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9421 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140858745-140986337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140869462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 778 (I778N)

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: I778N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: I778N

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	A	11: 58,177,451 (GRCm39)	N53K		Het
Alpk1	C	T	3: 127,467,069 (GRCm39)	R1070Q	probably damaging	Het
AU018091	T	C	7: 3,208,085 (GRCm39)	I541V	probably benign	Het
B3galt2	A	T	1: 143,522,364 (GRCm39)	R167*	probably null	Het
Bltp3a	A	T	17: 28,095,660 (GRCm39)	D23V	probably damaging	Het
Cabin1	A	G	10: 75,493,658 (GRCm39)	L1660S	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cpne3	A	T	4: 19,536,561 (GRCm39)	M233K	probably benign	Het
Cxcl13	T	A	5: 96,107,789 (GRCm39)	W82R	probably damaging	Het
Dock10	T	A	1: 80,501,509 (GRCm39)	Y1848F	probably damaging	Het
Ednra	G	A	8: 78,391,681 (GRCm39)	T403M	probably damaging	Het
Fbl	A	G	7: 27,875,439 (GRCm39)	I186V	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gorasp2	T	C	2: 70,509,867 (GRCm39)	V176A	probably damaging	Het
Gpr151	T	C	18: 42,712,220 (GRCm39)	I153V	probably benign	Het
Kat6a	C	T	8: 23,398,322 (GRCm39)	L297F	probably damaging	Het
Kcnq4	T	A	4: 120,573,868 (GRCm39)	I198F	possibly damaging	Het
Kdm7a	A	G	6: 39,129,763 (GRCm39)	V471A	possibly damaging	Het
Ltn1	A	T	16: 87,215,375 (GRCm39)	M420K	possibly damaging	Het
Lypd6b	A	G	2: 49,832,552 (GRCm39)	E39G	probably benign	Het
Man2b2	T	C	5: 36,978,271 (GRCm39)	T338A	probably benign	Het
Mcm7	T	C	5: 138,165,477 (GRCm39)	T476A	possibly damaging	Het
Or1e30	T	A	11: 73,677,927 (GRCm39)	H54Q	probably benign	Het
Or2y10	G	T	11: 49,455,201 (GRCm39)	G151V	probably benign	Het
Or51h5	T	A	7: 102,577,711 (GRCm39)	I292K	probably damaging	Het
Pdzd2	A	T	15: 12,375,114 (GRCm39)	F1674I		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pilrb1	A	G	5: 137,853,296 (GRCm39)	V169A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rsf1	GC	GCGGCGGCGAC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc49a4	C	A	16: 35,518,372 (GRCm39)	W447L		Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Stxbp2	T	C	8: 3,682,264 (GRCm39)	W27R		Het
Tle6	G	A	10: 81,429,868 (GRCm39)	T410M		Het
Ttyh2	C	G	11: 114,587,633 (GRCm39)	Y211*	probably null	Het
Ubap2l	T	A	3: 89,955,108 (GRCm39)	Q20L	possibly damaging	Het
Usp19	T	C	9: 108,376,792 (GRCm39)	Y1122H	probably damaging	Het
Zcchc2	G	T	1: 105,950,987 (GRCm39)	V574L	probably benign	Het
Zfp532	G	A	18: 65,757,308 (GRCm39)	V414I	probably benign	Het
Zfp616	A	C	11: 73,974,331 (GRCm39)	N291T	possibly damaging	Het
Zfp820	A	T	17: 22,038,336 (GRCm39)	C331S	probably benign	Het
Zfp94	G	A	7: 24,002,978 (GRCm39)	R155*	probably null	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
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
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'- AATCTTCCAGTTCCCAGGCTG -3'
(R):5'- AAGAGAGAACCCCTAGCTGG -3'

Sequencing Primer
(F):5'- ACTCACCGGCTGTAGCTG -3'
(R):5'- AGAACCCCTAGCTGGCATGG -3'

Posted On

2022-05-16