Incidental Mutation 'R1794:Ccl20'
ID 202008
Institutional Source Beutler Lab
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
MMRRC Submission 039824-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R1794 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 83094487-83096888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83095550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 37 (I37K)
Ref Sequence ENSEMBL: ENSMUSP00000027351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027351] [ENSMUST00000113437] [ENSMUST00000186832]
AlphaFold O89093
Predicted Effect possibly damaging
Transcript: ENSMUST00000027351
AA Change: I37K

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027351
Gene: ENSMUSG00000026166
AA Change: I37K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
SCY 30 90 9.36e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113437
AA Change: I38K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109064
Gene: ENSMUSG00000026166
AA Change: I38K

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
SCY 30 90 9.36e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186832
AA Change: I37K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139923
Gene: ENSMUSG00000026166
AA Change: I37K

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
SCY 29 89 9.36e-19 SMART
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.8%
  • 20x: 91.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa7 A G 14: 20,521,535 (GRCm39) Y54H unknown Het
Arhgef3 A G 14: 27,119,562 (GRCm39) T331A probably benign Het
Arhgef40 G T 14: 52,227,387 (GRCm39) C477F possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp13a5 C A 16: 29,140,527 (GRCm39) R343L probably damaging Het
Brdt ACAGCAGCAGCAGCAGC ACAGCAGCAGCAGC 5: 107,507,719 (GRCm39) probably benign Het
Btbd2 G T 10: 80,479,747 (GRCm39) D426E probably damaging Het
Cabin1 A C 10: 75,561,579 (GRCm39) I974R possibly damaging Het
Cacna1i G A 15: 80,273,323 (GRCm39) V1670M probably damaging Het
Cc2d2a C A 5: 43,845,594 (GRCm39) Q288K probably damaging Het
Cdcp1 A G 9: 123,019,159 (GRCm39) V40A probably benign Het
Cdcp1 T C 9: 123,044,896 (GRCm39) T27A probably benign Het
Cdh4 C T 2: 179,528,635 (GRCm39) T581I probably damaging Het
Cgn A G 3: 94,669,864 (GRCm39) probably null Het
Col7a1 G A 9: 108,794,996 (GRCm39) G1493D unknown Het
Creb3 A G 4: 43,563,302 (GRCm39) E133G probably benign Het
Dchs1 T C 7: 105,420,927 (GRCm39) T498A probably benign Het
Dis3l A C 9: 64,225,058 (GRCm39) V413G possibly damaging Het
Dnah6 T C 6: 73,001,941 (GRCm39) E3865G probably damaging Het
Fam219b A G 9: 57,446,564 (GRCm39) Y139C probably damaging Het
Fat3 A T 9: 15,908,432 (GRCm39) Y2523* probably null Het
Fat3 A T 9: 15,908,434 (GRCm39) Y2523N probably benign Het
Fmnl1 T C 11: 103,087,973 (GRCm39) S40P probably benign Het
Gm4792 T C 10: 94,134,352 (GRCm39) D6G unknown Het
Hhat G T 1: 192,376,214 (GRCm39) Y306* probably null Het
Hmcn1 A G 1: 150,474,036 (GRCm39) I4802T probably benign Het
Hmcn1 G A 1: 150,502,903 (GRCm39) T3908I probably damaging Het
Hsph1 A T 5: 149,554,238 (GRCm39) N79K probably damaging Het
Ikbke T A 1: 131,186,955 (GRCm39) Y579F probably damaging Het
Jak2 A G 19: 29,276,957 (GRCm39) D838G probably benign Het
Klhdc7b T C 15: 89,271,223 (GRCm39) S702P probably benign Het
Lingo3 C A 10: 80,671,432 (GRCm39) R166L probably benign Het
Lins1 T C 7: 66,361,657 (GRCm39) F436S probably damaging Het
Lman1 T C 18: 66,124,755 (GRCm39) D328G probably benign Het
Lox A G 18: 52,661,379 (GRCm39) C232R probably damaging Het
Lrrc59 T C 11: 94,529,421 (GRCm39) V165A probably benign Het
Map9 A G 3: 82,287,528 (GRCm39) D50G probably damaging Het
Marchf1 T A 8: 66,839,594 (GRCm39) Y126N possibly damaging Het
Mcf2l T C 8: 12,965,982 (GRCm39) F3L probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nin G A 12: 70,090,569 (GRCm39) Q949* probably null Het
Nlgn3 A G X: 100,363,639 (GRCm39) H636R probably benign Het
Notch2 A G 3: 98,006,863 (GRCm39) D411G possibly damaging Het
Or4c52 A G 2: 89,845,364 (GRCm39) Y30C probably damaging Het
Or5b24 G C 19: 12,912,332 (GRCm39) A77P probably damaging Het
Pate7 T A 9: 35,688,418 (GRCm39) I56F probably benign Het
Plekha7 A G 7: 115,739,916 (GRCm39) V579A probably damaging Het
Prrc2c T C 1: 162,533,528 (GRCm39) probably benign Het
Rab7b T C 1: 131,624,806 (GRCm39) probably null Het
Reg3b G T 6: 78,349,197 (GRCm39) probably null Het
Rgs20 A G 1: 4,980,795 (GRCm39) Y177H probably damaging Het
Ripk3 G T 14: 56,022,786 (GRCm39) N379K probably benign Het
Rnf220 G T 4: 117,164,765 (GRCm39) Q7K probably benign Het
Ros1 T A 10: 52,000,199 (GRCm39) K1109* probably null Het
Slc22a7 T G 17: 46,744,079 (GRCm39) R460S probably damaging Het
Slc4a2 A G 5: 24,644,326 (GRCm39) M975V probably damaging Het
Slc4a3 A T 1: 75,533,952 (GRCm39) I1100F probably damaging Het
Smco1 A G 16: 32,092,950 (GRCm39) E207G probably benign Het
Snrnp200 A G 2: 127,058,656 (GRCm39) E369G probably benign Het
Spata31d1e T C 13: 59,890,434 (GRCm39) E44G probably benign Het
Tcf4 T A 18: 69,790,924 (GRCm39) M178K probably benign Het
Tex2 T C 11: 106,458,728 (GRCm39) probably benign Het
Tjp1 A T 7: 64,972,877 (GRCm39) I521N probably damaging Het
Tmem203 A G 2: 25,146,006 (GRCm39) T109A probably benign Het
Tmem50b T C 16: 91,374,917 (GRCm39) I126V probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a T C 1: 188,595,006 (GRCm39) F3813L probably benign Het
Vmn1r203 C T 13: 22,708,521 (GRCm39) R101W probably damaging Het
Vmn2r79 G A 7: 86,650,621 (GRCm39) V136I probably benign Het
Wdr38 A G 2: 38,890,741 (GRCm39) Y205C probably damaging Het
Zfp248 A G 6: 118,406,264 (GRCm39) F442L probably damaging Het
Znrf4 A G 17: 56,818,599 (GRCm39) I236T probably damaging Het
Other mutations in Ccl20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02864:Ccl20 APN 1 83,095,799 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGAAGCCATGGTCTTGTGAATTG -3'
(R):5'- CAGTTCTGCTTTGGATCAGCG -3'

Sequencing Primer
(F):5'- GTGTTAGTTAAACCAAAACATCCCAG -3'
(R):5'- TGGATCAGCGCACACAGATTTTC -3'
Posted On 2014-06-23