Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01782:Card11'

153947

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 #

IGL01782

Quality Score

Status

Chromosome

Chromosomal Location

140858745-140986337 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 140913481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000082941 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000085786
AA Change: M1T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: M1T

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: ENSMUST00000199091

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	C	9: 63,523,995 (GRCm39)	V34A	probably benign	Het
Acacb	G	T	5: 114,338,581 (GRCm39)	G764W	probably damaging	Het
Adam34l	T	A	8: 44,079,772 (GRCm39)	T151S	probably benign	Het
Ankib1	A	G	5: 3,777,607 (GRCm39)	C428R	probably damaging	Het
Ccdc62	T	A	5: 124,092,639 (GRCm39)	N541K	possibly damaging	Het
Cep290	C	T	10: 100,380,987 (GRCm39)	Q1742*	probably null	Het
Cyp2c23	T	C	19: 44,017,554 (GRCm39)	T25A	possibly damaging	Het
Dtx2	C	A	5: 136,038,981 (GRCm39)	Y13*	probably null	Het
Dync1h1	T	C	12: 110,581,374 (GRCm39)	I273T	probably damaging	Het
Etfb	A	G	7: 43,103,966 (GRCm39)	T134A	probably damaging	Het
Fig4	A	C	10: 41,146,396 (GRCm39)	L182R	probably benign	Het
Gm10220	A	T	5: 26,322,021 (GRCm39)	L217Q	probably damaging	Het
Gm4871	T	G	5: 144,967,170 (GRCm39)		probably benign	Het
Gm5464	T	C	14: 67,106,837 (GRCm39)		probably benign	Het
Lurap1	A	G	4: 116,001,700 (GRCm39)		probably benign	Het
Mmp17	T	A	5: 129,679,205 (GRCm39)	V368E	probably damaging	Het
Mrpl22	T	A	11: 58,062,670 (GRCm39)		probably null	Het
Nisch	G	A	14: 30,898,596 (GRCm39)		probably benign	Het
Odf4	A	T	11: 68,817,459 (GRCm39)	H76Q	probably damaging	Het
Or2t48	T	A	11: 58,419,985 (GRCm39)	M276L	probably benign	Het
Or6c207	C	T	10: 129,104,908 (GRCm39)	V95I	probably benign	Het
Orc1	T	C	4: 108,463,465 (GRCm39)	S661P	possibly damaging	Het
Otud4	T	G	8: 80,399,640 (GRCm39)	F784V	possibly damaging	Het
Prkch	A	G	12: 73,806,436 (GRCm39)	D561G	probably damaging	Het
Pttg1ip	T	C	10: 77,417,763 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,314,131 (GRCm39)	K1617R	probably damaging	Het
Rarb	T	G	14: 16,434,180 (GRCm38)	S333R	probably damaging	Het
Rps6ka2	A	G	17: 7,503,523 (GRCm39)	K99E	probably benign	Het
Sel1l2	A	T	2: 140,085,855 (GRCm39)	W542R	probably damaging	Het
Sema3g	G	T	14: 30,949,748 (GRCm39)	R643L	probably damaging	Het
Sltm	T	A	9: 70,480,923 (GRCm39)	D258E	probably damaging	Het
Stx18	G	A	5: 38,263,955 (GRCm39)	V80I	possibly damaging	Het
Taar2	A	T	10: 23,817,042 (GRCm39)	N194I	probably damaging	Het
Ube2r2	T	C	4: 41,174,129 (GRCm39)		probably null	Het
Unk	C	A	11: 115,949,205 (GRCm39)	N645K	probably benign	Het
Vmn1r73	A	G	7: 11,490,665 (GRCm39)	K161R	probably benign	Het
Vps13a	T	C	19: 16,731,701 (GRCm39)	D137G	probably damaging	Het
Xrra1	A	G	7: 99,524,401 (GRCm39)	T104A	possibly damaging	Het
Zfp410	T	A	12: 84,374,048 (GRCm39)		probably benign	Het
Zfp764l1	T	C	7: 126,992,476 (GRCm39)	T45A	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
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
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

2014-02-04