Incidental Mutation 'IGL00653:Ccl8'
ID9466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl8
Ensembl Gene ENSMUSG00000009185
Gene Namechemokine (C-C motif) ligand 8
SynonymsMCP-2, 1810063B20Rik, Scya8, HC14
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00653
Quality Score
Status
Chromosome11
Chromosomal Location82115185-82116799 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 82116602 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 88 (L88F)
Ref Sequence ENSEMBL: ENSMUSP00000009329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009329]
Predicted Effect probably damaging
Transcript: ENSMUST00000009329
AA Change: L88F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000009329
Gene: ENSMUSG00000009185
AA Change: L88F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SCY 29 88 6.62e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Some alleles of Ccl12 also affect expression of this gene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 T C 7: 51,566,513 S373P probably damaging Het
Ces2c A T 8: 104,849,736 Y127F possibly damaging Het
Glp1r T C 17: 30,930,760 S333P probably damaging Het
Mycbp2 T C 14: 103,143,228 N3664S probably damaging Het
N4bp1 T C 8: 86,861,726 S195G probably benign Het
Scaper A T 9: 55,859,859 N429K probably damaging Het
Sparcl1 C T 5: 104,092,922 G212D probably benign Het
Other mutations in Ccl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Ccl8 APN 11 82116609 missense probably damaging 1.00
R4979:Ccl8 UTSW 11 82116147 missense probably damaging 1.00
R6997:Ccl8 UTSW 11 82116039 missense possibly damaging 0.91
R7322:Ccl8 UTSW 11 82116582 missense probably damaging 1.00
R7627:Ccl8 UTSW 11 82116039 missense probably benign 0.13
R7671:Ccl8 UTSW 11 82115207 start gained probably benign
Posted On2012-12-06