Incidental Mutation 'IGL00755:Card6'
ID 12504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Card6
Ensembl Gene ENSMUSG00000041849
Gene Name caspase recruitment domain family, member 6
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00755
Quality Score
Status
Chromosome 15
Chromosomal Location 5125463-5138021 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5128423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 991 (T991I)
Ref Sequence ENSEMBL: ENSMUSP00000112833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118365]
AlphaFold E9PWH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000118365
AA Change: T991I

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849
AA Change: T991I

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,492,102 (GRCm39) Y4381C possibly damaging Het
Cd163 A G 6: 124,295,616 (GRCm39) N684S possibly damaging Het
Cep290 A G 10: 100,366,966 (GRCm39) T1106A probably damaging Het
Cplx4 T A 18: 66,090,166 (GRCm39) probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dnah6 A T 6: 73,189,417 (GRCm39) probably null Het
Dock8 A G 19: 25,028,873 (GRCm39) K26E probably benign Het
Fancl G A 11: 26,420,916 (GRCm39) V349I probably benign Het
Gsg1l A G 7: 125,522,598 (GRCm39) F210S possibly damaging Het
Mboat2 T A 12: 25,007,645 (GRCm39) V419E probably benign Het
Mycbp2 A G 14: 103,432,057 (GRCm39) V2327A possibly damaging Het
Ndnf C T 6: 65,680,242 (GRCm39) P174S probably damaging Het
Nlrp9b A T 7: 19,757,447 (GRCm39) D228V probably damaging Het
Prps2 A T X: 166,157,138 (GRCm39) I56N possibly damaging Het
Reln A G 5: 22,265,378 (GRCm39) V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 (GRCm39) N42K probably benign Het
Sass6 G A 3: 116,411,977 (GRCm39) E312K probably damaging Het
Scrn1 T A 6: 54,497,694 (GRCm39) D299V possibly damaging Het
Slk T A 19: 47,597,449 (GRCm39) C86S probably damaging Het
Veph1 C T 3: 66,162,431 (GRCm39) E76K probably damaging Het
Zfp282 C T 6: 47,857,324 (GRCm39) P186S probably damaging Het
Other mutations in Card6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Card6 APN 15 5,129,484 (GRCm39) missense possibly damaging 0.93
IGL02016:Card6 APN 15 5,137,738 (GRCm39) missense probably damaging 1.00
IGL02976:Card6 APN 15 5,129,310 (GRCm39) nonsense probably null
IGL03328:Card6 APN 15 5,134,927 (GRCm39) splice site probably benign
IGL03356:Card6 APN 15 5,129,723 (GRCm39) missense probably benign 0.00
Mark UTSW 15 5,128,173 (GRCm39) small deletion probably benign
sharps UTSW 15 5,129,378 (GRCm39) nonsense probably null
PIT4131001:Card6 UTSW 15 5,137,788 (GRCm39) missense probably damaging 1.00
PIT4142001:Card6 UTSW 15 5,128,113 (GRCm39) missense unknown
PIT4458001:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R0562:Card6 UTSW 15 5,134,648 (GRCm39) missense probably damaging 1.00
R0943:Card6 UTSW 15 5,129,768 (GRCm39) missense probably damaging 1.00
R1654:Card6 UTSW 15 5,128,214 (GRCm39) missense probably benign 0.00
R3892:Card6 UTSW 15 5,128,778 (GRCm39) missense probably benign 0.01
R4408:Card6 UTSW 15 5,130,536 (GRCm39) missense probably damaging 0.97
R4856:Card6 UTSW 15 5,134,623 (GRCm39) splice site probably null
R4886:Card6 UTSW 15 5,134,623 (GRCm39) splice site probably null
R4998:Card6 UTSW 15 5,129,564 (GRCm39) missense probably benign 0.00
R5050:Card6 UTSW 15 5,129,858 (GRCm39) missense probably benign 0.00
R5365:Card6 UTSW 15 5,134,888 (GRCm39) missense possibly damaging 0.53
R5518:Card6 UTSW 15 5,134,696 (GRCm39) missense probably damaging 0.99
R5686:Card6 UTSW 15 5,130,435 (GRCm39) missense probably damaging 0.99
R6088:Card6 UTSW 15 5,134,501 (GRCm39) missense possibly damaging 0.56
R6194:Card6 UTSW 15 5,127,926 (GRCm39) missense unknown
R6336:Card6 UTSW 15 5,128,646 (GRCm39) nonsense probably null
R6539:Card6 UTSW 15 5,134,873 (GRCm39) missense probably damaging 0.99
R6560:Card6 UTSW 15 5,128,367 (GRCm39) missense probably damaging 1.00
R7132:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7157:Card6 UTSW 15 5,129,591 (GRCm39) missense probably benign 0.07
R7174:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7186:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7338:Card6 UTSW 15 5,129,354 (GRCm39) missense probably benign 0.09
R7430:Card6 UTSW 15 5,128,682 (GRCm39) missense probably benign 0.00
R7579:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7677:Card6 UTSW 15 5,127,926 (GRCm39) missense unknown
R7718:Card6 UTSW 15 5,129,269 (GRCm39) missense possibly damaging 0.54
R7720:Card6 UTSW 15 5,127,905 (GRCm39) missense unknown
R7756:Card6 UTSW 15 5,129,378 (GRCm39) nonsense probably null
R7758:Card6 UTSW 15 5,129,378 (GRCm39) nonsense probably null
R7762:Card6 UTSW 15 5,134,820 (GRCm39) missense probably benign
R7786:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7808:Card6 UTSW 15 5,128,954 (GRCm39) missense probably benign 0.00
R7817:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7822:Card6 UTSW 15 5,128,347 (GRCm39) missense possibly damaging 0.82
R7902:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R7977:Card6 UTSW 15 5,130,007 (GRCm39) missense probably damaging 1.00
R7987:Card6 UTSW 15 5,130,007 (GRCm39) missense probably damaging 1.00
R8295:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R8303:Card6 UTSW 15 5,134,847 (GRCm39) missense probably benign 0.13
R8431:Card6 UTSW 15 5,129,758 (GRCm39) missense probably damaging 0.98
R8691:Card6 UTSW 15 5,129,078 (GRCm39) missense possibly damaging 0.76
R8937:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R8978:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9009:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9071:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9441:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9558:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9565:Card6 UTSW 15 5,128,173 (GRCm39) small deletion probably benign
R9771:Card6 UTSW 15 5,129,693 (GRCm39) missense probably benign 0.01
R9800:Card6 UTSW 15 5,128,702 (GRCm39) missense probably benign 0.00
RF013:Card6 UTSW 15 5,129,624 (GRCm39) missense probably benign 0.19
Posted On 2012-12-06