|Institutional Source||Beutler Lab|
|Gene Name||C-type lectin domain family 11, member a|
|Is this an essential gene?||Probably non essential (E-score: 0.086)|
|Stock #||R5093 (G1)|
|Chromosomal Location||44302687-44306902 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 44304726 bp|
|Amino Acid Change||Alanine to Threonine at position 268 (A268T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004587 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004587]|
|Predicted Effect||probably damaging
AA Change: A268T
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: A268T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0769|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased bone volume in limb bones and vertebrae, reduced bone strength, and delayed fracture healing. Bone marrow stromal cells display impaired osteogenic differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Clec11a||
(F):5'- TCTAGAAGGGGAACTCGCAG -3'
(R):5'- ACAAGTGCTTCCTGCTCTCG -3'
(F):5'- AAGAACCGTCGTCTGAG -3'
(R):5'- AGACTTCGAGACCCAGGC -3'