Incidental Mutation 'R8714:Card11'
ID 669763
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 068568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 140858745-140986337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140899147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 9 (D9V)
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: D9V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: D9V

DomainStartEndE-ValueType
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: 99.6%
  • 20x: 98.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,100,093 (GRCm39) A137T probably benign Het
4930474N05Rik T A 14: 35,818,456 (GRCm39) C151* probably null Het
Abca4 A G 3: 121,942,528 (GRCm39) T1674A probably benign Het
Acat3 A T 17: 13,147,516 (GRCm39) V167E probably benign Het
Alb T C 5: 90,608,874 (GRCm39) probably null Het
Apol9a T C 15: 77,288,942 (GRCm39) T142A probably benign Het
Asb14 C T 14: 26,623,032 (GRCm39) P135S possibly damaging Het
Asb17 A G 3: 153,556,313 (GRCm39) Y140C probably damaging Het
Atp4a T A 7: 30,420,013 (GRCm39) I750N probably damaging Het
Bard1 T C 1: 71,069,986 (GRCm39) Y664C probably damaging Het
Cacnb3 G A 15: 98,530,262 (GRCm39) probably benign Het
Casp8 A T 1: 58,872,812 (GRCm39) Q229H possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cep350 T C 1: 155,736,477 (GRCm39) D2853G probably damaging Het
Cfap161 T C 7: 83,442,482 (GRCm39) I110M probably benign Het
Chid1 T A 7: 141,093,678 (GRCm39) K313* probably null Het
Col16a1 T A 4: 129,947,961 (GRCm39) I227N unknown Het
D3Ertd751e G T 3: 41,700,998 (GRCm39) E6* probably null Het
Ddx41 T C 13: 55,682,250 (GRCm39) Q208R probably damaging Het
Dhrs13 G C 11: 77,923,492 (GRCm39) R70P possibly damaging Het
Dmrta1 A T 4: 89,579,682 (GRCm39) Q214L probably benign Het
Eif2ak4 T C 2: 118,292,765 (GRCm39) F1330L possibly damaging Het
Fbxw13 C T 9: 109,023,832 (GRCm39) V71I probably benign Het
H2-Q2 T C 17: 35,562,338 (GRCm39) L195P possibly damaging Het
Hemgn C T 4: 46,395,904 (GRCm39) G444D probably damaging Het
Lmtk2 A G 5: 144,112,876 (GRCm39) T1199A probably damaging Het
Ly75 T C 2: 60,164,829 (GRCm39) D783G probably damaging Het
Micall1 G A 15: 79,011,510 (GRCm39) A627T probably benign Het
Morc2a C T 11: 3,625,877 (GRCm39) T159I probably benign Het
Mthfr C A 4: 148,126,275 (GRCm39) N115K probably damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Mug1 C T 6: 121,859,681 (GRCm39) P1227S probably benign Het
Ogfod3 T A 11: 121,087,608 (GRCm39) D163V possibly damaging Het
Or51a43 T A 7: 103,717,483 (GRCm39) I252F probably damaging Het
Pcnx2 C T 8: 126,500,546 (GRCm39) V1515I probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr3 G T 11: 69,738,838 (GRCm39) G167C probably benign Het
Plxna4 T A 6: 32,140,379 (GRCm39) K1670* probably null Het
Prb1c G A 6: 132,341,051 (GRCm39) T7I unknown Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rnf157 C A 11: 116,237,891 (GRCm39) A577S probably benign Het
Rnf213 C T 11: 119,359,720 (GRCm39) S4371L Het
S1pr1 A T 3: 115,505,470 (GRCm39) S375T probably benign Het
Spen T C 4: 141,215,314 (GRCm39) N506S unknown Het
Sulf1 T A 1: 12,878,141 (GRCm39) Y210N probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tg A G 15: 66,555,891 (GRCm39) N861S probably damaging Het
Ttc29 A G 8: 79,060,331 (GRCm39) E417G possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubxn7 T A 16: 32,186,229 (GRCm39) probably benign Het
Vmn1r62 C A 7: 5,678,629 (GRCm39) Y103* probably null Het
Zfp804b A T 5: 6,822,378 (GRCm39) Y228* probably null Het
Other mutations in Card11
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GACTGAGCATGTGTGGTTCAC -3'
(R):5'- CCCTTGGATAAGAGGCAATCTG -3'

Sequencing Primer
(F):5'- ATCTTGGACGGCAGCATG -3'
(R):5'- AGAGGCAATCTGTCCTATGC -3'
Posted On 2021-04-30