Incidental Mutation 'IGL02976:Card6'
ID406377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Card6
Ensembl Gene ENSMUSG00000041849
Gene Namecaspase recruitment domain family, member 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02976
Quality Score
Status
Chromosome15
Chromosomal Location5095981-5108539 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 5099828 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 695 (C695*)
Ref Sequence ENSEMBL: ENSMUSP00000112833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118365]
Predicted Effect probably null
Transcript: ENSMUST00000118365
AA Change: C695*
SMART Domains Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: C695*

DomainStartEndE-ValueType
CARD 3 89 2.13e-5 SMART
low complexity region 237 245 N/A INTRINSIC
low complexity region 257 273 N/A INTRINSIC
Blast:PGAM 278 656 7e-45 BLAST
low complexity region 919 935 N/A INTRINSIC
low complexity region 946 961 N/A INTRINSIC
internal_repeat_1 962 1041 6.5e-13 PROSPERO
internal_repeat_1 1039 1101 6.5e-13 PROSPERO
low complexity region 1107 1132 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]
PHENOTYPE: Knockout mice are viable and grossly normal with no deficits in thymocytes, granulocytes, macrophages, NK cells or T- and B-cell subsets. Various signaling pathways mediating innate and adaptive immune responses appear unaltered. Mice are normally resistant to infection by a wide range of pathogens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019N19Rik A T 19: 58,789,120 V78E probably benign Het
9630041A04Rik A G 9: 101,939,646 T84A possibly damaging Het
Adgrd1 T A 5: 129,131,597 S288T probably benign Het
Ano7 T A 1: 93,402,673 D806E possibly damaging Het
Arl6 A G 16: 59,623,896 L79P probably damaging Het
Carmil1 T C 13: 24,092,551 N610S possibly damaging Het
Cdc40 A G 10: 40,882,921 V52A probably benign Het
Chd4 G A 6: 125,121,368 R369H probably damaging Het
Clasp2 C T 9: 113,906,136 P1031L probably damaging Het
Cldn34d C T X: 76,583,084 A121T probably benign Het
Clmp A C 9: 40,781,224 Y263S possibly damaging Het
Cntn5 A G 9: 10,419,099 probably benign Het
Folh1 A T 7: 86,762,918 M215K probably benign Het
Fut1 C T 7: 45,619,320 R233C probably damaging Het
Gcdh A C 8: 84,888,578 Y398D probably damaging Het
Gm26741 T G 10: 52,358,814 S16R possibly damaging Het
Jph3 T A 8: 121,753,084 L167Q probably damaging Het
Jup A G 11: 100,378,366 V407A probably benign Het
Kif17 C T 4: 138,269,063 A117V probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Magi2 C T 5: 20,534,475 P349S probably damaging Het
Mlycd T C 8: 119,401,485 M177T possibly damaging Het
Mocos A G 18: 24,666,569 K287E possibly damaging Het
Morc2b T A 17: 33,137,523 H425L possibly damaging Het
Mrpl9 T A 3: 94,447,777 probably benign Het
Myo3a G A 2: 22,542,452 W825* probably null Het
Npas2 T C 1: 39,287,484 S17P probably damaging Het
Nrk A G X: 138,992,068 I1174V probably benign Het
Olfr1423 A T 19: 12,035,973 Y256* probably null Het
Olfr392 A G 11: 73,814,317 I255T probably damaging Het
Olfr730 G A 14: 50,186,432 Q262* probably null Het
Parpbp A G 10: 88,111,594 probably null Het
Pcdh10 T C 3: 45,380,013 V254A possibly damaging Het
Plod1 C T 4: 147,913,321 V644I probably damaging Het
Ptpn1 T C 2: 167,971,784 V149A probably benign Het
Rassf4 T C 6: 116,638,248 E320G probably damaging Het
Rgl2 T A 17: 33,933,962 D448E possibly damaging Het
Rnf32 C T 5: 29,206,712 probably null Het
Rpa1 T A 11: 75,312,802 D358V probably damaging Het
Sdk2 T C 11: 113,851,842 N747S probably damaging Het
Slc17a4 A C 13: 23,905,424 M170R probably damaging Het
Slc5a4a G A 10: 76,170,693 V310M possibly damaging Het
Spag9 G A 11: 94,083,953 R463H probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Syt10 A G 15: 89,814,479 S221P probably benign Het
Tlk1 T A 2: 70,721,591 K579* probably null Het
Tubgcp3 T C 8: 12,632,300 Y673C probably damaging Het
Vmn1r223 T C 13: 23,249,995 F253S probably damaging Het
Vmn2r83 T C 10: 79,468,998 M14T probably benign Het
Zfp59 A G 7: 27,853,396 D91G probably benign Het
Other mutations in Card6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Card6 APN 15 5098941 missense possibly damaging 0.93
IGL01307:Card6 APN 15 5100002 missense possibly damaging 0.93
IGL02016:Card6 APN 15 5108256 missense probably damaging 1.00
IGL03328:Card6 APN 15 5105445 splice site probably benign
IGL03356:Card6 APN 15 5100241 missense probably benign 0.00
PIT4131001:Card6 UTSW 15 5108306 missense probably damaging 1.00
PIT4142001:Card6 UTSW 15 5098631 missense unknown
PIT4458001:Card6 UTSW 15 5098691 small deletion probably benign
R0562:Card6 UTSW 15 5105166 missense probably damaging 1.00
R0943:Card6 UTSW 15 5100286 missense probably damaging 1.00
R1654:Card6 UTSW 15 5098732 missense probably benign 0.00
R3892:Card6 UTSW 15 5099296 missense probably benign 0.01
R4408:Card6 UTSW 15 5101054 missense probably damaging 0.97
R4856:Card6 UTSW 15 5105141 synonymous probably null
R4886:Card6 UTSW 15 5105141 synonymous probably null
R4998:Card6 UTSW 15 5100082 missense probably benign 0.00
R5050:Card6 UTSW 15 5100376 missense probably benign 0.00
R5365:Card6 UTSW 15 5105406 missense possibly damaging 0.53
R5518:Card6 UTSW 15 5105214 missense probably damaging 0.99
R5686:Card6 UTSW 15 5100953 missense probably damaging 0.99
R6088:Card6 UTSW 15 5105019 missense possibly damaging 0.56
R6194:Card6 UTSW 15 5098444 missense unknown
R6336:Card6 UTSW 15 5099164 nonsense probably null
R6539:Card6 UTSW 15 5105391 missense probably damaging 0.99
R6560:Card6 UTSW 15 5098885 missense probably damaging 1.00
R7132:Card6 UTSW 15 5098691 small deletion probably benign
R7157:Card6 UTSW 15 5100109 missense probably benign 0.07
R7174:Card6 UTSW 15 5098691 small deletion probably benign
R7186:Card6 UTSW 15 5098691 small deletion probably benign
R7338:Card6 UTSW 15 5099872 missense probably benign 0.09
R7430:Card6 UTSW 15 5099200 missense probably benign 0.00
R7579:Card6 UTSW 15 5098691 small deletion probably benign
R7677:Card6 UTSW 15 5098444 missense unknown
R7718:Card6 UTSW 15 5099787 missense possibly damaging 0.54
R7720:Card6 UTSW 15 5098423 missense unknown
R7756:Card6 UTSW 15 5099896 nonsense probably null
R7758:Card6 UTSW 15 5099896 nonsense probably null
R7762:Card6 UTSW 15 5105338 missense probably benign
R7786:Card6 UTSW 15 5098691 small deletion probably benign
R7808:Card6 UTSW 15 5099472 missense probably benign 0.00
R7817:Card6 UTSW 15 5098691 small deletion probably benign
R7822:Card6 UTSW 15 5098865 missense possibly damaging 0.82
RF013:Card6 UTSW 15 5100142 missense probably benign 0.19
Posted On2016-08-02