Incidental Mutation 'R7911:Card11'
ID 610505
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 045960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7911 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 140858745-140986337 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 140867755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000082941
Gene: ENSMUSG00000036526

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
Meta Mutation Damage Score 0.9594 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,693,667 (GRCm39) F95L probably benign Het
Abca3 C G 17: 24,617,478 (GRCm39) D1058E probably damaging Het
Abca7 C A 10: 79,840,867 (GRCm39) R919S probably benign Het
Abcc2 T C 19: 43,792,109 (GRCm39) S297P probably benign Het
Abcc8 A G 7: 45,803,860 (GRCm39) L438P probably damaging Het
Acbd6 C A 1: 155,562,750 (GRCm39) D250E probably damaging Het
Ankrd31 A G 13: 97,015,608 (GRCm39) N1626D possibly damaging Het
Arrdc4 C T 7: 68,394,924 (GRCm39) E112K probably benign Het
B3galnt1 T A 3: 69,482,574 (GRCm39) Y229F probably damaging Het
Calcrl A C 2: 84,181,575 (GRCm39) I191S probably damaging Het
Camkmt T A 17: 85,759,866 (GRCm39) probably null Het
Cfap157 A G 2: 32,668,219 (GRCm39) L407P probably damaging Het
Cfap299 T A 5: 98,885,567 (GRCm39) M158K possibly damaging Het
Chst15 T C 7: 131,872,251 (GRCm39) Q10R probably benign Het
Ciao3 A G 17: 25,999,372 (GRCm39) E262G probably benign Het
Col26a1 A G 5: 136,771,952 (GRCm39) L424P probably damaging Het
Cryzl2 T C 1: 157,299,925 (GRCm39) M308T probably benign Het
Ctu2 T C 8: 123,207,733 (GRCm39) I403T probably benign Het
Ddhd2 A G 8: 26,238,563 (GRCm39) probably null Het
Dmrt1 T A 19: 25,580,692 (GRCm39) L368Q probably benign Het
Dnah7b C A 1: 46,178,838 (GRCm39) P837Q probably damaging Het
Drg2 T A 11: 60,355,001 (GRCm39) L283Q possibly damaging Het
Dscam G A 16: 96,445,122 (GRCm39) T1523I probably benign Het
Farp1 T C 14: 121,479,818 (GRCm39) S370P probably damaging Het
Fbxl21 G A 13: 56,684,976 (GRCm39) G360D probably damaging Het
Fbxo39 T C 11: 72,208,358 (GRCm39) S237P probably damaging Het
Gart G T 16: 91,435,672 (GRCm39) F180L probably benign Het
Gng4 T C 13: 13,999,857 (GRCm39) L42P possibly damaging Het
Heatr9 T A 11: 83,403,234 (GRCm39) D435V probably damaging Het
Hsh2d A G 8: 72,950,648 (GRCm39) E45G probably damaging Het
Ighv1-74 A G 12: 115,766,410 (GRCm39) I70T probably damaging Het
Igkv1-133 T A 6: 67,701,924 (GRCm39) F9L probably benign Het
Ipo5 A G 14: 121,167,051 (GRCm39) probably null Het
Jmjd1c T C 10: 67,067,774 (GRCm39) V1578A probably damaging Het
Kcnj5 T C 9: 32,233,517 (GRCm39) D266G probably damaging Het
Klk1b9 A T 7: 43,629,211 (GRCm39) K206N probably damaging Het
Macir T A 1: 97,573,615 (GRCm39) H150L probably damaging Het
Madd C T 2: 90,997,853 (GRCm39) G725D probably null Het
Mki67 A T 7: 135,306,333 (GRCm39) H576Q probably damaging Het
Mprip T A 11: 59,651,681 (GRCm39) I36N Het
Mycbp2 T G 14: 103,437,621 (GRCm39) E2113D probably damaging Het
Noa1 T C 5: 77,457,677 (GRCm39) Y76C probably damaging Het
Noct A G 3: 51,155,069 (GRCm39) probably benign Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Pcdhga6 C T 18: 37,842,479 (GRCm39) S733L not run Het
Pdlim7 T C 13: 55,646,919 (GRCm39) E389G probably damaging Het
Ppip5k1 A G 2: 121,173,139 (GRCm39) Y480H possibly damaging Het
Prc1 T A 7: 79,954,120 (GRCm39) D93E probably benign Het
Prdm15 A G 16: 97,613,792 (GRCm39) M459T probably benign Het
Ptpn13 G A 5: 103,688,924 (GRCm39) A906T probably damaging Het
Ptpn21 T C 12: 98,655,101 (GRCm39) E622G probably damaging Het
Pum1 T C 4: 130,501,788 (GRCm39) V1104A probably benign Het
Scn2a G A 2: 65,512,427 (GRCm39) R188Q probably null Het
Sh3pxd2b G A 11: 32,321,533 (GRCm39) V31I probably damaging Het
Skor1 T C 9: 63,052,328 (GRCm39) E547G possibly damaging Het
Slk C T 19: 47,603,668 (GRCm39) T183I Het
Sorcs1 C A 19: 50,132,470 (GRCm39) D1163Y unknown Het
Tex14 G A 11: 87,424,428 (GRCm39) probably null Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Tlcd4 A T 3: 121,022,041 (GRCm39) I119K probably damaging Het
Trav5-4 T C 14: 53,941,908 (GRCm39) F94L probably benign Het
Trpc6 G C 9: 8,656,705 (GRCm39) G789R probably benign Het
Ttn A T 2: 76,537,095 (GRCm39) C34944* probably null Het
Usp53 T C 3: 122,754,916 (GRCm39) M180V probably benign Het
Vwa3b T C 1: 37,193,107 (GRCm39) S8P probably damaging Het
Wdr90 A T 17: 26,069,723 (GRCm39) M1205K probably benign Het
Zcwpw1 A T 5: 137,795,032 (GRCm39) E76V 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
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'- TCACTGCGGGGATAAAATGG -3'
(R):5'- GCAGGTCTTTGATGTTGCAC -3'

Sequencing Primer
(F):5'- TAAAATGGGACCAGAGAAGCC -3'
(R):5'- GATGTTGCACCTGACATTCAG -3'
Posted On 2019-12-20