Incidental Mutation 'IGL02333:Ccl22'
ID 288766
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl22
Ensembl Gene ENSMUSG00000031779
Gene Name C-C motif chemokine ligand 22
Synonyms MDC, ABCD-1, Scya22
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02333
Quality Score
Status
Chromosome 8
Chromosomal Location 95472312-95478016 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95476507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 91 (L91Q)
Ref Sequence ENSEMBL: ENSMUSP00000034231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034231]
AlphaFold O88430
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: 105,862,273 (GRCm39) V276I probably benign Het
Acss2 T A 2: 155,397,804 (GRCm39) W289R probably damaging Het
Alpk2 A G 18: 65,482,551 (GRCm39) S19P probably damaging Het
Ano3 T C 2: 110,527,544 (GRCm39) probably benign Het
Atxn1 G A 13: 45,720,680 (GRCm39) S405F probably damaging Het
Atxn2 A G 5: 121,919,450 (GRCm39) Y386C probably damaging Het
Bach2 T A 4: 32,575,334 (GRCm39) L643* probably null Het
Cdc40 A G 10: 40,743,855 (GRCm39) Y81H probably benign Het
Col5a3 C A 9: 20,710,602 (GRCm39) R549M unknown Het
Eif3e A T 15: 43,129,533 (GRCm39) N198K probably benign Het
Emp2 A G 16: 10,102,375 (GRCm39) Y146H probably damaging Het
Impg1 G A 9: 80,322,808 (GRCm39) L66F possibly damaging Het
Itsn1 A G 16: 91,617,564 (GRCm39) probably benign Het
Khdrbs3 T C 15: 68,921,243 (GRCm39) Y187H probably damaging Het
Klhdc7a T A 4: 139,694,467 (GRCm39) H160L probably benign Het
Klhl2 G A 8: 65,212,784 (GRCm39) R252W probably damaging Het
Krba1 C T 6: 48,390,021 (GRCm39) T595I probably damaging Het
Myo9b G T 8: 71,811,637 (GRCm39) D1887Y possibly damaging Het
Olfm4 C T 14: 80,259,210 (GRCm39) T453I probably damaging Het
Sin3a A G 9: 57,014,843 (GRCm39) N688S possibly damaging Het
Slc47a1 A G 11: 61,260,950 (GRCm39) V150A probably damaging Het
Sptbn4 A G 7: 27,063,724 (GRCm39) L2234P probably damaging Het
Trpm4 C T 7: 44,971,539 (GRCm39) V166M possibly damaging Het
Usp54 A T 14: 20,639,463 (GRCm39) F156L probably damaging Het
Vmn2r32 A T 7: 7,467,143 (GRCm39) F795Y probably damaging Het
Other mutations in Ccl22
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4082:Ccl22 UTSW 8 95,473,536 (GRCm39) missense probably damaging 1.00
R6959:Ccl22 UTSW 8 95,473,528 (GRCm39) critical splice acceptor site probably null
R8273:Ccl22 UTSW 8 95,473,619 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16