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|Institutional Source||Beutler Lab|
|Gene Name||coiled-coil domain containing 88B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2167 (G1)|
|Chromosomal Location||6844623-6858211 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 6854084 bp|
|Amino Acid Change||Glutamine to Lysine at position 497 (Q497K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109067 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113440]|
|Predicted Effect||possibly damaging
AA Change: Q497K
PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: Q497K
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccdc88b||
(F):5'- CCTGAGAACACTTGGGTGAC -3'
(R):5'- CACCCTCACTGCAAGATGAG -3'
(F):5'- ACCTTGTGATGTCAGAGTATGATGC -3'
(R):5'- CCCTCACTGCAAGATGAGGTGAG -3'