Incidental Mutation 'IGL02333:Ccl22'
ID288766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl22
Ensembl Gene ENSMUSG00000031779
Gene Namechemokine (C-C motif) ligand 22
SynonymsMDC, Scya22, ABCD-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02333
Quality Score
Status
Chromosome8
Chromosomal Location94745590-94751699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 94749879 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 91 (L91Q)
Ref Sequence ENSEMBL: ENSMUSP00000034231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034231]
Predicted Effect probably damaging
Transcript: ENSMUST00000034231
AA Change: L91Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034231
Gene: ENSMUSG00000031779
AA Change: L91Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SCY 33 91 4.65e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156137
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock out allele exhibit dendritic cell physiology relating to CCR4-mediated cell contacts between dendritic cells and cytotoxic T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,971,447 V276I probably benign Het
Acss2 T A 2: 155,555,884 W289R probably damaging Het
Alpk2 A G 18: 65,349,480 S19P probably damaging Het
Ano3 T C 2: 110,697,199 probably benign Het
Atxn1 G A 13: 45,567,204 S405F probably damaging Het
Atxn2 A G 5: 121,781,387 Y386C probably damaging Het
Bach2 T A 4: 32,575,334 L643* probably null Het
Cdc40 A G 10: 40,867,859 Y81H probably benign Het
Col5a3 C A 9: 20,799,306 R549M unknown Het
Eif3e A T 15: 43,266,137 N198K probably benign Het
Emp2 A G 16: 10,284,511 Y146H probably damaging Het
Impg1 G A 9: 80,440,755 L66F possibly damaging Het
Itsn1 A G 16: 91,820,676 probably benign Het
Khdrbs3 T C 15: 69,049,394 Y187H probably damaging Het
Klhdc7a T A 4: 139,967,156 H160L probably benign Het
Klhl2 G A 8: 64,759,750 R252W probably damaging Het
Krba1 C T 6: 48,413,087 T595I probably damaging Het
Myo9b G T 8: 71,358,993 D1887Y possibly damaging Het
Olfm4 C T 14: 80,021,770 T453I probably damaging Het
Sin3a A G 9: 57,107,559 N688S possibly damaging Het
Slc47a1 A G 11: 61,370,124 V150A probably damaging Het
Sptbn4 A G 7: 27,364,299 L2234P probably damaging Het
Trpm4 C T 7: 45,322,115 V166M possibly damaging Het
Usp54 A T 14: 20,589,395 F156L probably damaging Het
Vmn2r32 A T 7: 7,464,144 F795Y probably damaging Het
Other mutations in Ccl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4082:Ccl22 UTSW 8 94746908 missense probably damaging 1.00
R6959:Ccl22 UTSW 8 94746900 critical splice acceptor site probably null
R8273:Ccl22 UTSW 8 94746991 missense probably damaging 1.00
Posted On2015-04-16