Incidental Mutation 'IGL00820:Ccl1'
ID 9460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl1
Ensembl Gene ENSMUSG00000020702
Gene Name C-C motif chemokine ligand 1
Synonyms I-309, Scya1, Tca-3, CCR8 ligand
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL00820
Quality Score
Status
Chromosome 11
Chromosomal Location 82067492-82070638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82068914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 41 (E41G)
Ref Sequence ENSEMBL: ENSMUSP00000103824 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021043] [ENSMUST00000108189]
AlphaFold P10146
Predicted Effect probably benign
Transcript: ENSMUST00000021043
AA Change: E41G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000021043
Gene: ENSMUSG00000020702
AA Change: E41G

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SCY 30 80 1.06e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108189
AA Change: E41G

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103824
Gene: ENSMUSG00000020702
AA Change: E41G

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SCY 30 89 3.23e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138333
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 chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted null allele are refractory to the anti-inflammatory response of the statin drug lovastatin and fail to exhibit an increase in regulatory T cell recruitment to sites of inflammation in a model of delayed-type hypersensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,083,878 (GRCm39) I631F probably benign Het
Baiap3 T C 17: 25,467,664 (GRCm39) D314G probably benign Het
Ephx1 T C 1: 180,827,386 (GRCm39) Y89C possibly damaging Het
Fbxw18 G A 9: 109,522,437 (GRCm39) T144I probably damaging Het
Galt C T 4: 41,758,570 (GRCm39) A357V probably benign Het
Gfra1 T C 19: 58,252,337 (GRCm39) probably benign Het
Hivep1 A T 13: 42,337,294 (GRCm39) I2458L probably benign Het
Itga8 A G 2: 12,237,703 (GRCm39) V339A possibly damaging Het
Klk1b8 T C 7: 43,604,210 (GRCm39) I226T probably benign Het
Mfsd6 C T 1: 52,747,465 (GRCm39) V467M probably damaging Het
Mrpl16 T C 19: 11,751,777 (GRCm39) V179A probably benign Het
Or52e19b G A 7: 103,032,672 (GRCm39) T179I probably damaging Het
Pnpla6 A G 8: 3,582,358 (GRCm39) T693A possibly damaging Het
Ptpn2 A C 18: 67,808,862 (GRCm39) I318R possibly damaging Het
Slc34a1 A G 13: 24,003,317 (GRCm39) H285R probably benign Het
Slit2 G A 5: 48,146,493 (GRCm39) E95K possibly damaging Het
Spmip6 A T 4: 41,507,178 (GRCm39) L206Q probably damaging Het
Sptb A G 12: 76,679,251 (GRCm39) L68P probably damaging Het
Stxbp6 G A 12: 44,908,129 (GRCm39) T163I probably damaging Het
Tex15 A G 8: 34,069,034 (GRCm39) probably benign Het
Tti1 T C 2: 157,850,888 (GRCm39) E117G probably damaging Het
Ube4b T C 4: 149,437,378 (GRCm39) probably benign Het
Wipi1 A C 11: 109,473,945 (GRCm39) probably benign Het
Zan A T 5: 137,384,626 (GRCm39) C5133S unknown Het
Other mutations in Ccl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:Ccl1 APN 11 82,068,958 (GRCm39) missense possibly damaging 0.88
IGL03118:Ccl1 APN 11 82,068,896 (GRCm39) missense probably damaging 1.00
R0017:Ccl1 UTSW 11 82,068,843 (GRCm39) critical splice donor site probably null
R4044:Ccl1 UTSW 11 82,070,519 (GRCm39) missense probably benign 0.00
R5743:Ccl1 UTSW 11 82,067,712 (GRCm39) missense possibly damaging 0.90
R6483:Ccl1 UTSW 11 82,068,860 (GRCm39) missense possibly damaging 0.60
R6878:Ccl1 UTSW 11 82,070,519 (GRCm39) missense probably benign 0.36
R6938:Ccl1 UTSW 11 82,067,684 (GRCm39) missense probably damaging 0.99
R7950:Ccl1 UTSW 11 82,070,519 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06