Incidental Mutation 'R1818:Card11'
ID 204587
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 039846-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1818 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 140858745-140986337 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140871315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 729 (D729E)
Ref Sequence ENSEMBL: ENSMUSP00000082941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085786]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000085786
AA Change: D729E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526
AA Change: D729E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196169
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.5%
  • 20x: 90.4%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,857 (GRCm39) probably null Het
Adam6b T A 12: 113,454,876 (GRCm39) N564K probably benign Het
Ahi1 A G 10: 20,864,461 (GRCm39) Y731C probably damaging Het
Ankk1 A G 9: 49,331,725 (GRCm39) Y190H probably benign Het
Ankmy1 T A 1: 92,814,553 (GRCm39) D318V probably benign Het
Ankrd33b G A 15: 31,367,267 (GRCm39) A91V probably damaging Het
Ap3b1 A G 13: 94,608,212 (GRCm39) N561S possibly damaging Het
Apob A G 12: 8,056,834 (GRCm39) N1739S probably damaging Het
Apob A G 12: 8,063,064 (GRCm39) T236A possibly damaging Het
Birc6 G A 17: 74,956,844 (GRCm39) A3593T probably damaging Het
Bnc2 A G 4: 84,210,111 (GRCm39) F778L possibly damaging Het
Capn2 T A 1: 182,300,162 (GRCm39) K609N probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccl20 A G 1: 83,095,529 (GRCm39) Y30C probably damaging Het
Cd209a G A 8: 3,795,576 (GRCm39) T106I probably damaging Het
Cebpz A G 17: 79,242,805 (GRCm39) L283P probably damaging Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Clec4e T A 6: 123,262,452 (GRCm39) D155V possibly damaging Het
Col25a1 G A 3: 130,379,386 (GRCm39) probably null Het
Cyp2j11 A T 4: 96,185,976 (GRCm39) V403D probably damaging Het
Cyp4v3 G A 8: 45,768,673 (GRCm39) R296C possibly damaging Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Denr T A 5: 124,055,283 (GRCm39) D49E probably benign Het
Dnaaf3 A T 7: 4,526,568 (GRCm39) probably null Het
Dnaaf3 G T 7: 4,526,569 (GRCm39) L503M probably benign Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dnai4 A G 4: 102,929,854 (GRCm39) V56A possibly damaging Het
Efcab3 T A 11: 104,612,333 (GRCm39) L652Q probably benign Het
Ehd4 C T 2: 119,932,885 (GRCm39) W180* probably null Het
Ephb2 A G 4: 136,382,647 (GRCm39) S984P probably benign Het
Eva1a T C 6: 82,048,125 (GRCm39) M1T probably null Het
Fam90a1a C G 8: 22,453,787 (GRCm39) P381A possibly damaging Het
Fam90a1a C A 8: 22,453,788 (GRCm39) P381Q probably damaging Het
Flnc T C 6: 29,457,447 (GRCm39) Y2382H probably damaging Het
Flrt1 A T 19: 7,072,711 (GRCm39) L612Q probably damaging Het
Fubp1 T A 3: 151,927,806 (GRCm39) N419K probably damaging Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Gm4847 T A 1: 166,465,788 (GRCm39) H267L probably damaging Het
Golga4 T G 9: 118,402,055 (GRCm39) V91G probably damaging Het
Hip1r T C 5: 124,134,018 (GRCm39) probably null Het
Ice2 A G 9: 69,339,383 (GRCm39) S967G probably benign Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Impdh2 T G 9: 108,440,411 (GRCm39) probably null Het
Inmt C A 6: 55,150,404 (GRCm39) V78F possibly damaging Het
Inpp5e T C 2: 26,287,886 (GRCm39) S637G probably benign Het
Kansl1 T C 11: 104,233,283 (GRCm39) H748R possibly damaging Het
Kif28 T C 1: 179,533,319 (GRCm39) K541E possibly damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Kifc2 T C 15: 76,550,281 (GRCm39) V480A probably damaging Het
Lrrc74a T C 12: 86,784,484 (GRCm39) Y71H probably damaging Het
Ly75 T G 2: 60,142,121 (GRCm39) T1330P probably damaging Het
Macf1 A G 4: 123,270,210 (GRCm39) V6647A probably damaging Het
Mgat1 T C 11: 49,152,111 (GRCm39) I198T possibly damaging Het
Morc3 A G 16: 93,652,398 (GRCm39) Y367C probably damaging Het
Mtfr1 A G 3: 19,269,837 (GRCm39) T162A probably damaging Het
Myrip C T 9: 120,217,228 (GRCm39) S49L probably damaging Het
Nup153 A T 13: 46,835,113 (GRCm39) N1397K possibly damaging Het
Or5h26 T C 16: 58,988,243 (GRCm39) K88E probably benign Het
Or6x1 T C 9: 40,098,558 (GRCm39) V49A probably benign Het
Or8b36 T C 9: 37,937,803 (GRCm39) S234P probably damaging Het
Or8g21 T C 9: 38,905,902 (GRCm39) I276M possibly damaging Het
Pabpc2 G T 18: 39,907,163 (GRCm39) V143L probably damaging Het
Pals2 T G 6: 50,140,411 (GRCm39) F144V probably benign Het
Panx3 T C 9: 37,575,322 (GRCm39) K180R probably benign Het
Patj G A 4: 98,511,885 (GRCm39) V144M possibly damaging Het
Pde1c T A 6: 56,103,877 (GRCm39) K651* probably null Het
Pde4c A G 8: 71,179,638 (GRCm39) H63R probably benign Het
Pdha2 T A 3: 140,916,960 (GRCm39) K183* probably null Het
Pkd1l3 T A 8: 110,375,038 (GRCm39) C1504S probably benign Het
Plbd2 A T 5: 120,625,574 (GRCm39) probably null Het
Poteg G A 8: 27,940,195 (GRCm39) W121* probably null Het
Prf1 C A 10: 61,138,762 (GRCm39) T240N probably damaging Het
Ptprf A G 4: 118,067,068 (GRCm39) Y1883H probably damaging Het
Puf60 T C 15: 75,943,323 (GRCm39) T322A possibly damaging Het
Rev3l A G 10: 39,704,420 (GRCm39) I281M probably benign Het
Rufy1 T C 11: 50,305,399 (GRCm39) I305V probably benign Het
Shisa9 A C 16: 12,085,426 (GRCm39) Q329P probably damaging Het
Siglech G A 7: 55,418,332 (GRCm39) R100Q probably damaging Het
Slc13a5 T A 11: 72,144,169 (GRCm39) Y303F probably benign Het
Snx6 C T 12: 54,830,259 (GRCm39) V67I possibly damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Tecpr2 A G 12: 110,892,888 (GRCm39) Y310C probably damaging Het
Top1 T A 2: 160,557,643 (GRCm39) L575Q probably damaging Het
Usp16 C T 16: 87,276,020 (GRCm39) R452* probably null Het
Utrn A G 10: 12,585,708 (GRCm39) probably null Het
Vps13b G A 15: 35,877,723 (GRCm39) G2899E probably benign Het
Wipi2 T A 5: 142,643,963 (GRCm39) L115Q probably damaging Het
Zbtb7c A C 18: 76,270,596 (GRCm39) E228A probably damaging Het
Zfp26 T C 9: 20,353,487 (GRCm39) T101A probably benign Het
Zfp593 A T 4: 133,972,394 (GRCm39) probably null Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp948 G A 17: 21,805,069 (GRCm39) V20M probably damaging Het
Zranb3 A T 1: 127,945,293 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- GACCCGGAGCATCTTCAAAC -3'
(R):5'- TAGAGACACATGCAGCCCAG -3'

Sequencing Primer
(F):5'- TGAGATGCGGCTCAACTCTCATG -3'
(R):5'- CTGATGATGGATGCTCCA -3'
Posted On 2014-06-23