|Institutional Source||Beutler Lab|
|Gene Name||chemokine (C-C motif) ligand 3|
|Synonyms||MIP-1alpha, MIP1-alpha, G0S19-1, LD78alpha, Mip1a, macrophage inflammatory protein-1alpha, Scya3, MIP-1 alpha, CCL3, MIP1-(a)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0549 (G1)|
|Chromosomal Location||83647844-83649355 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 83648336 bp|
|Amino Acid Change||Threonine to Alanine at position 66 (T66A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001008 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001008] [ENSMUST00000182502]|
|Predicted Effect||probably damaging
AA Change: T66A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T66A
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6985|
|Coding Region Coverage||
|Validation Efficiency||96% (48/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]
PHENOTYPE: Animals homozygous for a mutation in this gene exhibit resistance to Coxsackie virus-induced myocarditis and reduced pneumonitis following infection with influenza virus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ccl3||
(F):5'- CCAAACAGTGTGACCAACTGGGAG -3'
(R):5'- CCCAGCCAGGTGTCATGTAAGTTC -3'
(F):5'- taaaattTCAAGTGAAGAGTCCCTCG -3'
(R):5'- ACAGTGTAAGAGAGGGTTTTTCAGTC -3'