Incidental Mutation 'IGL01604:Ccl12'
ID 92669
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl12
Ensembl Gene ENSMUSG00000035352
Gene Name C-C motif chemokine ligand 12
Synonyms MCP-5, Scya12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01604
Quality Score
Status
Chromosome 11
Chromosomal Location 81992671-81994225 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to G at 81994059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 105 (*105W)
Ref Sequence ENSEMBL: ENSMUSP00000000194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000194]
AlphaFold Q62401
Predicted Effect probably null
Transcript: ENSMUST00000000194
AA Change: *105W
SMART Domains Protein: ENSMUSP00000000194
Gene: ENSMUSG00000035352
AA Change: *105W

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCY 30 89 4.49e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124916
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal with no apparent alterations in monocyte homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,168,462 (GRCm39) I1416L possibly damaging Het
Abcc4 A T 14: 118,765,406 (GRCm39) M992K possibly damaging Het
Adnp A G 2: 168,026,258 (GRCm39) S346P probably damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Cblif A G 19: 11,735,126 (GRCm39) T249A probably benign Het
Chd1 A G 17: 15,990,359 (GRCm39) D1637G possibly damaging Het
Cpeb2 T C 5: 43,436,038 (GRCm39) probably null Het
Cul4a T C 8: 13,183,843 (GRCm39) probably null Het
Dlg1 T A 16: 31,675,256 (GRCm39) probably benign Het
Fam171b A G 2: 83,709,944 (GRCm39) T539A possibly damaging Het
Fcgbpl1 A G 7: 27,854,749 (GRCm39) N1792D probably benign Het
Gm9696 A C 3: 59,879,723 (GRCm39) noncoding transcript Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Knl1 T A 2: 118,900,482 (GRCm39) F728I probably damaging Het
Megf9 C A 4: 70,367,028 (GRCm39) C318F probably null Het
Mpi G A 9: 57,458,025 (GRCm39) A59V possibly damaging Het
Mrps28 A G 3: 8,965,130 (GRCm39) I103T probably damaging Het
Msantd2 G A 9: 37,434,144 (GRCm39) R329H probably benign Het
Myh7b C T 2: 155,474,327 (GRCm39) L1681F probably damaging Het
Nf1 C T 11: 79,332,535 (GRCm39) probably benign Het
Or4k52 A G 2: 111,610,935 (GRCm39) K90R possibly damaging Het
Or5b119 G A 19: 13,456,612 (GRCm39) probably benign Het
Rapgef6 G A 11: 54,585,389 (GRCm39) E1596K probably damaging Het
Serpinb3b T C 1: 107,082,454 (GRCm39) E270G probably benign Het
Skor2 C A 18: 76,947,646 (GRCm39) A456E possibly damaging Het
Slc13a2 A G 11: 78,294,221 (GRCm39) I220T possibly damaging Het
Slc6a1 T A 6: 114,291,362 (GRCm39) M361K probably damaging Het
Tars2 G A 3: 95,647,590 (GRCm39) R608C probably damaging Het
Tctn3 T C 19: 40,593,746 (GRCm39) probably null Het
Tex14 A G 11: 87,400,524 (GRCm39) I439V possibly damaging Het
Thbs2 T A 17: 14,899,031 (GRCm39) I690F probably benign Het
Vwa8 A G 14: 79,418,244 (GRCm39) I1684V possibly damaging Het
Xdh T C 17: 74,216,332 (GRCm39) I705V probably benign Het
Other mutations in Ccl12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02327:Ccl12 APN 11 81,993,948 (GRCm39) missense possibly damaging 0.96
IGL02567:Ccl12 APN 11 81,993,447 (GRCm39) missense possibly damaging 0.89
R2121:Ccl12 UTSW 11 81,992,776 (GRCm39) missense probably damaging 1.00
R4924:Ccl12 UTSW 11 81,993,475 (GRCm39) missense probably benign 0.02
R5171:Ccl12 UTSW 11 81,993,460 (GRCm39) missense probably damaging 1.00
R5435:Ccl12 UTSW 11 81,994,001 (GRCm39) missense possibly damaging 0.51
R6188:Ccl12 UTSW 11 81,993,943 (GRCm39) missense probably damaging 1.00
R6885:Ccl12 UTSW 11 81,993,523 (GRCm39) missense probably damaging 0.96
R9353:Ccl12 UTSW 11 81,993,437 (GRCm39) missense possibly damaging 0.95
X0024:Ccl12 UTSW 11 81,993,953 (GRCm39) missense probably benign 0.00
Posted On 2013-12-09