Incidental Mutation 'PIT4458001:Card6'
ID 555935
Institutional Source Beutler Lab
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 # PIT4458001 (G1)
Quality Score 100.491
Status Not validated
Chromosome 15
Chromosomal Location 5125463-5138021 bp(-) (GRCm39)
Type of Mutation small deletion (10 aa in frame mutation)
DNA Base Change (assembly) TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG to TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG at 5128173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118365]
AlphaFold E9PWH2
Predicted Effect probably benign
Transcript: ENSMUST00000118365
SMART Domains Protein: ENSMUSP00000112833
Gene: ENSMUSG00000041849

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.8%
  • 10x: 85.3%
  • 20x: 73.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G T 11: 9,248,304 (GRCm39) V2684L probably benign Het
Adamts9 T A 6: 92,866,886 (GRCm39) I718F probably damaging Het
Adcyap1r1 A G 6: 55,455,067 (GRCm39) D110G probably benign Het
Adgrd1 G A 5: 129,208,641 (GRCm39) G281D probably damaging Het
Afg1l A T 10: 42,330,366 (GRCm39) C100* probably null Het
Atp2a2 G A 5: 122,595,372 (GRCm39) Q993* probably null Het
Baz1a A G 12: 54,977,095 (GRCm39) M389T probably benign Het
Btnl4 T A 17: 34,693,242 (GRCm39) M58L probably benign Het
Cpeb1 A T 7: 80,998,180 (GRCm39) F533Y probably damaging Het
Ctnna1 T A 18: 35,308,179 (GRCm39) N166K possibly damaging Het
Ecsit T C 9: 21,987,580 (GRCm39) H153R probably damaging Het
Gbp8 T C 5: 105,162,955 (GRCm39) K480E probably benign Het
Glyat A T 19: 12,625,373 (GRCm39) T66S probably benign Het
Gm1110 T C 9: 26,792,124 (GRCm39) Q632R probably benign Het
Gm12185 C T 11: 48,798,738 (GRCm39) R585Q probably damaging Het
Gm17669 TAA TAAA 18: 67,695,819 (GRCm39) probably null Het
Gm7489 A C 15: 53,749,195 (GRCm39) E89A unknown Het
Grb7 C T 11: 98,344,655 (GRCm39) Q353* probably null Het
Ifi207 G A 1: 173,562,738 (GRCm39) T136I unknown Het
Ighv3-1 T C 12: 113,928,224 (GRCm39) Y45C probably benign Het
Ing5 A G 1: 93,739,668 (GRCm39) M92V possibly damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kdm6b A T 11: 69,290,778 (GRCm39) D1630E unknown Het
Lmo7 C T 14: 102,124,923 (GRCm39) Q583* probably null Het
Lrrc37a T C 11: 103,395,338 (GRCm39) D29G probably benign Het
Mpdz G T 4: 81,337,263 (GRCm39) A10D probably damaging Het
Myh4 A G 11: 67,131,821 (GRCm39) M94V possibly damaging Het
Nectin2 A C 7: 19,472,252 (GRCm39) L46V probably benign Het
Nynrin A T 14: 56,101,425 (GRCm39) T365S probably benign Het
Or4c120 A T 2: 89,000,977 (GRCm39) I193K probably benign Het
Pde4b A C 4: 102,459,875 (GRCm39) E570A probably damaging Het
Phf3 T C 1: 30,855,622 (GRCm39) H988R probably damaging Het
Ppfia2 A G 10: 106,763,708 (GRCm39) K1234E probably benign Het
Prl7c1 A T 13: 27,957,741 (GRCm39) M233K probably benign Het
Prp2 C T 6: 132,577,510 (GRCm39) P266S unknown Het
Ralgds T C 2: 28,432,486 (GRCm39) L160P probably damaging Het
Rasa1 A T 13: 85,375,237 (GRCm39) M664K possibly damaging Het
Ryr2 T C 13: 11,570,334 (GRCm39) T4930A probably benign Het
Senp8 T C 9: 59,644,763 (GRCm39) Y131C probably damaging Het
Sp100 A G 1: 85,635,837 (GRCm39) I547M probably benign Het
Spata20 A G 11: 94,375,434 (GRCm39) M120T probably damaging Het
Spata31 A G 13: 65,069,664 (GRCm39) H604R probably benign Het
Sycp1 A T 3: 102,842,149 (GRCm39) S53T probably benign Het
Tgm1 T C 14: 55,950,022 (GRCm39) D62G unknown Het
Trpm1 G C 7: 63,918,309 (GRCm39) E1434Q possibly damaging Het
Tshb A T 3: 102,685,480 (GRCm39) Y50N probably damaging Het
Wdr17 A T 8: 55,126,614 (GRCm39) Y413* probably null Het
Zdhhc16 G A 19: 41,926,209 (GRCm39) G55R possibly damaging Het
Other mutations in Card6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00755:Card6 APN 15 5,128,423 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- TGGGTCTCGGTTGAAAAGGC -3'
(R):5'- TGCTAAACCTTCTCATCAGAATCC -3'

Sequencing Primer
(F):5'- GCCTTACACTGAGTAGACTGG -3'
(R):5'- TCAGAATCCCTCTCATGCTAAC -3'
Posted On 2019-06-07