|Institutional Source||Beutler Lab|
|Is this an essential gene?||Probably non essential (E-score: 0.109)|
|Stock #||R7462 (G1)|
|Chromosomal Location||62664285-62694109 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 62672409 bp|
|Amino Acid Change||Aspartic acid to Tyrosine at position 54 (D54Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028257 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028257]|
|Predicted Effect||possibly damaging
AA Change: D54Y
PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D54Y
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal. However they do demonstrate an increased resistance to endotoxic shock. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gca||
(F):5'- TTTGCAAAATTTGGCCACTGG -3'
(R):5'- TTGTCAAGAGCAAACTCAATGG -3'
(F):5'- CAAAATTTGGCCACTGGATTTTTAGG -3'
(R):5'- ATGTCTACCCCCATCTTTGAGAAG -3'