Incidental Mutation 'IGL02864:Ccl20'
ID 362300
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl20
Ensembl Gene ENSMUSG00000026166
Gene Name C-C motif chemokine ligand 20
Synonyms exodus-1, MIP-3[a], MIP3A, ST38, Scya20, MIP-3A, CKb4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL02864
Quality Score
Status
Chromosome 1
Chromosomal Location 83094487-83096888 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 83095799 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027351] [ENSMUST00000113437] [ENSMUST00000186832]
AlphaFold O89093
Predicted Effect probably benign
Transcript: ENSMUST00000027351
AA Change: Y91H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000027351
Gene: ENSMUSG00000026166
AA Change: Y91H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCY 30 90 9.36e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113437
SMART Domains Protein: ENSMUSP00000109064
Gene: ENSMUSG00000026166

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
SCY 30 90 9.36e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000186832
SMART Domains Protein: ENSMUSP00000139923
Gene: ENSMUSG00000026166

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
SCY 29 89 9.36e-19 SMART
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 belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,937,080 (GRCm39) R347G probably damaging Het
Actl11 G A 9: 107,806,186 (GRCm39) A170T probably benign Het
Alpk2 T C 18: 65,440,670 (GRCm39) D241G probably benign Het
Arap2 A T 5: 62,835,308 (GRCm39) W745R probably damaging Het
Arhgef7 G A 8: 11,865,247 (GRCm39) V401I possibly damaging Het
Cacna1d A G 14: 29,773,663 (GRCm39) V1709A probably benign Het
Cd209d C T 8: 3,927,122 (GRCm39) V48I probably benign Het
Cttnbp2 T C 6: 18,374,548 (GRCm39) N1559S probably benign Het
Dnah9 T C 11: 65,951,829 (GRCm39) Y1890C probably damaging Het
Dsel A T 1: 111,786,944 (GRCm39) M1197K probably damaging Het
Dtl A T 1: 191,288,938 (GRCm39) S259T probably benign Het
Fbxw10 G A 11: 62,764,349 (GRCm39) G672D probably damaging Het
Fhod1 C T 8: 106,063,796 (GRCm39) probably benign Het
Gstk1 A G 6: 42,224,687 (GRCm39) Y135C possibly damaging Het
Gtpbp2 G A 17: 46,476,520 (GRCm39) C282Y probably benign Het
Hapln3 A T 7: 78,767,812 (GRCm39) W113R probably benign Het
Ifng A G 10: 118,278,561 (GRCm39) Y74C probably damaging Het
Kyat1 C A 2: 30,082,089 (GRCm39) probably benign Het
Las1l A T X: 94,991,446 (GRCm39) D308E possibly damaging Het
Mdh1b T A 1: 63,760,762 (GRCm39) T100S probably benign Het
Nrap A T 19: 56,338,806 (GRCm39) M810K probably damaging Het
Otof T C 5: 30,543,685 (GRCm39) D593G probably damaging Het
Pnma5 A T X: 72,079,457 (GRCm39) D408E probably benign Het
Pramel46 G T 5: 95,418,543 (GRCm39) A151E possibly damaging Het
Psen2 T C 1: 180,073,268 (GRCm39) T18A probably benign Het
Ptk7 A T 17: 46,883,659 (GRCm39) V802E probably damaging Het
Setd1b G A 5: 123,297,002 (GRCm39) probably benign Het
Snap91 T C 9: 86,720,141 (GRCm39) N132S possibly damaging Het
Spag9 A G 11: 93,997,487 (GRCm39) H675R probably damaging Het
Tpra1 C A 6: 88,888,868 (GRCm39) P350H probably damaging Het
Trim43a C T 9: 88,470,165 (GRCm39) R324C probably benign Het
Ttn T C 2: 76,566,675 (GRCm39) I28073V probably benign Het
Ttn G T 2: 76,767,095 (GRCm39) H3023Q probably benign Het
Vmn1r21 A G 6: 57,820,661 (GRCm39) V261A probably benign Het
Vwa5b1 G A 4: 138,336,286 (GRCm39) P103S probably benign Het
Wars1 A G 12: 108,848,791 (GRCm39) M52T probably benign Het
Zcchc2 C T 1: 105,943,814 (GRCm39) H460Y probably damaging Het
Zscan12 G T 13: 21,552,730 (GRCm39) V185F probably benign Het
Other mutations in Ccl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03372:Ccl20 APN 1 83,095,597 (GRCm39) missense probably benign 0.03
R0969:Ccl20 UTSW 1 83,095,638 (GRCm39) splice site probably benign
R1794:Ccl20 UTSW 1 83,095,550 (GRCm39) missense possibly damaging 0.74
R1818:Ccl20 UTSW 1 83,095,529 (GRCm39) missense probably damaging 0.96
R1897:Ccl20 UTSW 1 83,095,616 (GRCm39) missense probably damaging 1.00
R2001:Ccl20 UTSW 1 83,095,576 (GRCm39) frame shift probably null
R4885:Ccl20 UTSW 1 83,095,580 (GRCm39) missense possibly damaging 0.94
R7062:Ccl20 UTSW 1 83,095,535 (GRCm39) missense probably damaging 1.00
R8160:Ccl20 UTSW 1 83,095,543 (GRCm39) missense
R9349:Ccl20 UTSW 1 83,095,586 (GRCm39) missense
Posted On 2015-12-18