Incidental Mutation 'IGL01805:Ccl1'
ID 155655
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 # IGL01805
Quality Score
Status
Chromosome 11
Chromosomal Location 82067492-82070638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82068958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 26 (M26I)
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: M26I

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021043
Gene: ENSMUSG00000020702
AA Change: M26I

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: M26I

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103824
Gene: ENSMUSG00000020702
AA Change: M26I

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,677 (GRCm39) D17G possibly damaging Het
Adam28 G T 14: 68,879,540 (GRCm39) S169R probably benign Het
Aox1 T C 1: 58,120,672 (GRCm39) M855T possibly damaging Het
Apc C A 18: 34,451,271 (GRCm39) N2688K probably benign Het
Arhgap23 T A 11: 97,383,428 (GRCm39) probably benign Het
Bpifa6 A G 2: 153,826,832 (GRCm39) T66A probably benign Het
C1qtnf1 T A 11: 118,338,993 (GRCm39) L221Q probably damaging Het
Ccdc175 T A 12: 72,176,003 (GRCm39) probably benign Het
Dnah10 T A 5: 124,860,985 (GRCm39) F2123I probably damaging Het
Fancm T C 12: 65,160,635 (GRCm39) probably null Het
Fstl4 C A 11: 53,077,184 (GRCm39) A647E probably damaging Het
Hmgb4 G T 4: 128,154,015 (GRCm39) probably benign Het
Hr A T 14: 70,802,737 (GRCm39) probably benign Het
Ilrun C T 17: 27,986,880 (GRCm39) probably benign Het
Kcna4 G T 2: 107,126,843 (GRCm39) V526L probably damaging Het
Mas1 T C 17: 13,061,117 (GRCm39) Y102C probably damaging Het
Mucl3 T A 17: 35,948,535 (GRCm39) T355S possibly damaging Het
Mul1 C T 4: 138,166,974 (GRCm39) P343S possibly damaging Het
Obscn T C 11: 59,023,422 (GRCm39) S652G probably damaging Het
Or8g55 T C 9: 39,785,075 (GRCm39) F168S probably damaging Het
Pjvk A T 2: 76,487,858 (GRCm39) N250I probably benign Het
Pkd2 T C 5: 104,630,959 (GRCm39) I461T probably benign Het
Psen2 T C 1: 180,057,403 (GRCm39) probably null Het
Ralb T C 1: 119,403,725 (GRCm39) E81G probably benign Het
Slc15a4 T C 5: 127,685,900 (GRCm39) T261A possibly damaging Het
Vmn2r77 G A 7: 86,460,395 (GRCm39) V574M probably benign Het
Xrn2 A G 2: 146,870,063 (GRCm39) I251V probably damaging Het
Zfp974 G A 7: 27,611,689 (GRCm39) probably benign Het
Other mutations in Ccl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Ccl1 APN 11 82,068,914 (GRCm39) missense possibly damaging 0.85
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 2014-02-04