Incidental Mutation 'IGL01340:Cxcl1'
ID 74797
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 # IGL01340
Quality Score
Status
Chromosome 5
Chromosomal Location 91039100-91040974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91039434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 59 (C59F)
Ref Sequence ENSEMBL: ENSMUSP00000031327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031327]
AlphaFold P12850
Predicted Effect probably damaging
Transcript: ENSMUST00000031327
AA Change: C59F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031327
Gene: ENSMUSG00000029380
AA Change: C59F

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,021,453 (GRCm39) I1086L probably benign Het
Adam17 A T 12: 21,380,058 (GRCm39) C630* probably null Het
Adgrg5 T C 8: 95,664,257 (GRCm39) L289P probably damaging Het
Aplp1 G A 7: 30,143,843 (GRCm39) T64I probably damaging Het
Bdh1 T A 16: 31,275,661 (GRCm39) W261R probably damaging Het
Cadm2 A T 16: 66,581,672 (GRCm39) I202N possibly damaging Het
Cd209c C T 8: 3,995,892 (GRCm39) R6H probably benign Het
Cfap221 T A 1: 119,881,350 (GRCm39) I371F possibly damaging Het
Cfap44 A G 16: 44,224,493 (GRCm39) Y67C probably damaging Het
Cilp T C 9: 65,183,256 (GRCm39) S387P probably damaging Het
Cnot1 T C 8: 96,487,165 (GRCm39) D598G probably damaging Het
Col5a1 T C 2: 27,850,463 (GRCm39) L520P unknown Het
Cpvl A T 6: 53,873,436 (GRCm39) Y433* probably null Het
Cyth3 T A 5: 143,670,190 (GRCm39) L33* probably null Het
Dnah2 T C 11: 69,384,010 (GRCm39) K1069E probably damaging Het
Drosha T A 15: 12,834,109 (GRCm39) probably benign Het
Fam83h T A 15: 75,875,885 (GRCm39) D484V probably damaging Het
Igsf3 C A 3: 101,346,995 (GRCm39) Y663* probably null Het
Kmt5c C T 7: 4,745,140 (GRCm39) R44* probably null Het
Kxd1 T C 8: 70,968,093 (GRCm39) probably null Het
Lars1 A G 18: 42,335,642 (GRCm39) V1158A probably benign Het
Lmf2 A G 15: 89,237,075 (GRCm39) F413S probably damaging Het
Mc4r C T 18: 66,992,229 (GRCm39) A295T probably benign Het
Mrc1 T C 2: 14,314,895 (GRCm39) probably null Het
Mtmr7 T C 8: 41,050,465 (GRCm39) Y110C probably damaging Het
Myd88 A C 9: 119,166,418 (GRCm39) probably benign Het
Ndc1 T C 4: 107,231,344 (GRCm39) V95A probably damaging Het
Ntrk1 T A 3: 87,696,021 (GRCm39) E163V possibly damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pappa A T 4: 65,242,109 (GRCm39) D1491V possibly damaging Het
Phc3 T A 3: 30,984,033 (GRCm39) I673F possibly damaging Het
Pkhd1 A T 1: 20,593,201 (GRCm39) N1637K probably benign Het
Relb T C 7: 19,350,298 (GRCm39) I218V probably benign Het
Rgma T C 7: 73,067,078 (GRCm39) F111S probably damaging Het
Slco1a6 A T 6: 142,055,109 (GRCm39) N278K possibly damaging Het
Slfn9 A T 11: 82,872,577 (GRCm39) F720I probably benign Het
Snd1 T A 6: 28,883,368 (GRCm39) V741E probably benign Het
Snx6 C T 12: 54,801,094 (GRCm39) R185Q probably damaging Het
Spata31g1 A C 4: 42,971,984 (GRCm39) E439A possibly damaging Het
Telo2 G A 17: 25,319,103 (GRCm39) probably benign Het
Wdr91 A G 6: 34,881,514 (GRCm39) S278P probably benign Het
Xab2 A T 8: 3,664,381 (GRCm39) D277E probably damaging Het
Zbbx T C 3: 75,012,957 (GRCm39) E158G possibly damaging Het
Other mutations in Cxcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Cxcl1 APN 5 91,039,583 (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 2013-10-07