Incidental Mutation 'IGL01585:Cxcl1'
ID 93327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcl1
Ensembl Gene ENSMUSG00000029380
Gene Name C-X-C motif chemokine ligand 1
Synonyms N51, Fsp, KC, KC/GRO-alpha, Scyb1, Gro1, Mgsa
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL01585
Quality Score
Status
Chromosome 5
Chromosomal Location 91039100-91040974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91039583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 70 (N70K)
Ref Sequence ENSEMBL: ENSMUSP00000031327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031327]
AlphaFold P12850
Predicted Effect probably damaging
Transcript: ENSMUST00000031327
AA Change: N70K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031327
Gene: ENSMUSG00000029380
AA Change: N70K

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SCY 30 90 1.01e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201245
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This secretory protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils. In mouse, deficiency of this gene is associated with colitis and with defects in immune cell recruitment to the lung. [provided by RefSeq, Apr 2013]
PHENOTYPE: Targeted mutations in this gene when combine with targeted mutation of Ldlr decreases susceptibility to atherosclerotic lesions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,359,045 (GRCm39) D587G probably benign Het
Adcy1 T A 11: 7,117,143 (GRCm39) N1003K probably damaging Het
Alpk1 T C 3: 127,473,462 (GRCm39) D847G probably benign Het
Atp5f1a T C 18: 77,868,758 (GRCm39) V417A possibly damaging Het
Avp A C 2: 130,422,629 (GRCm39) S159A probably benign Het
Brca2 C A 5: 150,462,981 (GRCm39) A915D possibly damaging Het
Cdc42bpg G A 19: 6,370,462 (GRCm39) R1185H possibly damaging Het
Cdcp3 T G 7: 130,846,487 (GRCm39) V637G probably damaging Het
Clrn2 A G 5: 45,617,500 (GRCm39) I124V probably benign Het
Cntn4 A T 6: 106,595,289 (GRCm39) K469* probably null Het
Dbf4 A G 5: 8,458,492 (GRCm39) probably null Het
Fbn1 A T 2: 125,202,030 (GRCm39) V1281E probably damaging Het
Fgfr3 A T 5: 33,891,305 (GRCm39) Q523L probably damaging Het
Golga5 A G 12: 102,445,954 (GRCm39) K403R probably benign Het
Gpr22 A G 12: 31,759,336 (GRCm39) I262T probably benign Het
Gstm3 G T 3: 107,873,474 (GRCm39) Q166K probably benign Het
Ilf2 T A 3: 90,391,849 (GRCm39) N183K probably damaging Het
Ip6k2 T A 9: 108,673,512 (GRCm39) L40Q probably damaging Het
Itga8 A T 2: 12,165,123 (GRCm39) probably benign Het
Lbr T A 1: 181,653,208 (GRCm39) R70* probably null Het
Lilra6 T C 7: 3,917,498 (GRCm39) T166A probably benign Het
Map3k4 T C 17: 12,467,846 (GRCm39) K1063E probably damaging Het
Msi1 T C 5: 115,568,949 (GRCm39) probably null Het
Pam A G 1: 97,792,197 (GRCm39) V408A probably damaging Het
Plxna1 A G 6: 89,306,538 (GRCm39) probably null Het
Ppp1r36 A T 12: 76,485,891 (GRCm39) probably null Het
Prrt4 A G 6: 29,177,689 (GRCm39) S27P probably benign Het
Psmg1 G A 16: 95,789,221 (GRCm39) T112I possibly damaging Het
Rfx7 T G 9: 72,524,343 (GRCm39) I511S probably benign Het
Ros1 G A 10: 52,031,198 (GRCm39) T481M probably damaging Het
Scfd1 A G 12: 51,462,336 (GRCm39) D397G probably damaging Het
Sel1l3 A G 5: 53,311,578 (GRCm39) Y636H probably damaging Het
Sgms1 T G 19: 32,120,245 (GRCm39) R220S probably damaging Het
Slc37a3 A T 6: 39,314,196 (GRCm39) I472N probably damaging Het
Syne2 A G 12: 75,995,834 (GRCm39) probably null Het
Tert T C 13: 73,782,463 (GRCm39) V579A probably benign Het
Ush2a A T 1: 188,162,924 (GRCm39) H1002L probably damaging Het
Other mutations in Cxcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Cxcl1 APN 5 91,039,434 (GRCm39) missense probably damaging 1.00
IGL01731:Cxcl1 APN 5 91,039,436 (GRCm39) missense probably benign 0.02
R0973:Cxcl1 UTSW 5 91,039,626 (GRCm39) nonsense probably null
R0973:Cxcl1 UTSW 5 91,039,626 (GRCm39) nonsense probably null
R0974:Cxcl1 UTSW 5 91,039,626 (GRCm39) nonsense probably null
R3118:Cxcl1 UTSW 5 91,039,454 (GRCm39) critical splice donor site probably null
R5114:Cxcl1 UTSW 5 91,039,373 (GRCm39) missense probably benign 0.00
R7111:Cxcl1 UTSW 5 91,039,182 (GRCm39) missense unknown
Posted On 2013-12-09