Incidental Mutation 'IGL00472:Ccl3'
ID9462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl3
Ensembl Gene ENSMUSG00000000982
Gene Namechemokine (C-C motif) ligand 3
SynonymsMIP-1alpha, MIP1-alpha, G0S19-1, LD78alpha, Mip1a, macrophage inflammatory protein-1alpha, Scya3, MIP-1 alpha, CCL3, MIP1-(a)
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00472
Quality Score
Status
Chromosome11
Chromosomal Location83647844-83649355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83648641 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 39 (S39N)
Ref Sequence ENSEMBL: ENSMUSP00000001008 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001008] [ENSMUST00000182502]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001008
AA Change: S39N

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000001008
Gene: ENSMUSG00000000982
AA Change: S39N

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCY 31 88 2.25e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117199
Predicted Effect probably benign
Transcript: ENSMUST00000182502
SMART Domains Protein: ENSMUSP00000138342
Gene: ENSMUSG00000081906

DomainStartEndE-ValueType
Pfam:Ribosomal_L6 12 87 1.2e-16 PFAM
Pfam:Ribosomal_L6 119 177 6.8e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 C T 7: 81,095,653 probably benign Het
Atp8b1 T A 18: 64,564,430 I448F probably benign Het
C2cd2l A G 9: 44,317,103 L156P probably damaging Het
Cbll1 G A 12: 31,487,833 P308S probably damaging Het
Cnih4 G T 1: 181,162,094 G30C probably damaging Het
Endod1 A T 9: 14,356,753 F479I possibly damaging Het
Gm572 T G 4: 148,667,392 V238G possibly damaging Het
Grhl1 G T 12: 24,612,170 R536L probably damaging Het
Itgae A G 11: 73,113,694 K269R probably benign Het
Nin C A 12: 70,030,088 M1064I probably damaging Het
Pnkd A G 1: 74,285,922 K50E probably damaging Het
Rpl39l A G 16: 10,174,394 M29V probably benign Het
Spata5 A G 3: 37,436,644 H446R probably benign Het
Strip2 C T 6: 29,931,214 A388V probably benign Het
Tex21 A T 12: 76,206,797 N447K probably damaging Het
Zfp760 A G 17: 21,723,476 Y544C possibly damaging Het
Other mutations in Ccl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0549:Ccl3 UTSW 11 83648336 missense probably damaging 1.00
R4583:Ccl3 UTSW 11 83648338 missense probably benign 0.06
R5664:Ccl3 UTSW 11 83649213 missense probably benign 0.02
R5713:Ccl3 UTSW 11 83649240 missense possibly damaging 0.87
R6680:Ccl3 UTSW 11 83648306 missense probably benign
Posted On2012-12-06