Incidental Mutation 'IGL00820:Ccl1'
ID9460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccl1
Ensembl Gene ENSMUSG00000020702
Gene Namechemokine (C-C motif) ligand 1
SynonymsScya1, CCR8 ligand, Tca-3, I-309
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL00820
Quality Score
Status
Chromosome11
Chromosomal Location82176657-82305690 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82178088 bp
ZygosityHeterozygous
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]
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
1110017D15Rik A T 4: 41,507,178 L206Q probably damaging Het
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Galt C T 4: 41,758,570 A357V probably benign Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Ptpn2 A C 18: 67,675,792 I318R possibly damaging Het
Slc17a2 A G 13: 23,819,334 H285R probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Wipi1 A C 11: 109,583,119 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in Ccl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:Ccl1 APN 11 82178132 missense possibly damaging 0.88
IGL03118:Ccl1 APN 11 82178070 missense probably damaging 1.00
R0017:Ccl1 UTSW 11 82178017 critical splice donor site probably null
R4044:Ccl1 UTSW 11 82179693 missense probably benign 0.00
R5743:Ccl1 UTSW 11 82176886 missense possibly damaging 0.90
R6483:Ccl1 UTSW 11 82178034 missense possibly damaging 0.60
R6878:Ccl1 UTSW 11 82179693 missense probably benign 0.36
R6938:Ccl1 UTSW 11 82176858 missense probably damaging 0.99
R7950:Ccl1 UTSW 11 82179693 missense probably benign 0.00
Posted On2012-12-06