Incidental Mutation 'IGL01731:Cxcl1'
ID 105473
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: 0.087) question?
Stock # IGL01731
Quality Score
Status
Chromosome 5
Chromosomal Location 91039100-91040974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91039436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 60 (T60A)
Ref Sequence ENSEMBL: ENSMUSP00000031327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031327]
AlphaFold P12850
Predicted Effect probably benign
Transcript: ENSMUST00000031327
AA Change: T60A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031327
Gene: ENSMUSG00000029380
AA Change: T60A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430093F15Rik T A 19: 10,762,711 (GRCm39) probably benign Het
Abca13 T C 11: 9,199,749 (GRCm39) probably benign Het
Abcc6 G A 7: 45,652,034 (GRCm39) P611L possibly damaging Het
Acsl6 A G 11: 54,241,385 (GRCm39) E547G probably benign Het
Aldh1b1 T C 4: 45,803,472 (GRCm39) F337L possibly damaging Het
Alg1 C T 16: 5,062,383 (GRCm39) R422C probably benign Het
Ankrd23 A G 1: 36,573,147 (GRCm39) L75S probably damaging Het
Arid5b T C 10: 67,933,439 (GRCm39) H578R probably damaging Het
Atp10a G T 7: 58,447,310 (GRCm39) W684L probably benign Het
Bzw2 T C 12: 36,157,647 (GRCm39) probably null Het
C2cd2 A T 16: 97,671,372 (GRCm39) I509K probably damaging Het
Card11 T C 5: 140,868,057 (GRCm39) T864A possibly damaging Het
Ces1f A G 8: 93,993,948 (GRCm39) S278P possibly damaging Het
Chd8 T C 14: 52,450,111 (GRCm39) I208V probably benign Het
Cstf2t T C 19: 31,061,738 (GRCm39) S425P probably benign Het
Diaph1 G T 18: 37,986,762 (GRCm39) probably benign Het
Dnai4 T C 4: 102,919,632 (GRCm39) I139V probably benign Het
Exoc3l T G 8: 106,019,587 (GRCm39) K394T probably benign Het
Fabp4 T C 3: 10,270,293 (GRCm39) probably benign Het
Fam234b T A 6: 135,188,903 (GRCm39) F169L possibly damaging Het
Hectd1 C A 12: 51,849,593 (GRCm39) D204Y possibly damaging Het
Hephl1 A T 9: 14,981,066 (GRCm39) Y789N probably damaging Het
Igfbp6 C A 15: 102,053,252 (GRCm39) N90K probably benign Het
Khdrbs1 A T 4: 129,619,462 (GRCm39) D226E probably benign Het
Lipo4 T A 19: 33,490,013 (GRCm39) Q163L probably damaging Het
Med13l T C 5: 118,880,472 (GRCm39) I1188T probably benign Het
Mki67 T C 7: 135,298,278 (GRCm39) E2252G probably benign Het
Nepn G T 10: 52,276,660 (GRCm39) R132L probably benign Het
Nlrp9b T A 7: 19,757,342 (GRCm39) L193* probably null Het
Ntn1 A G 11: 68,276,244 (GRCm39) S235P probably damaging Het
Nup210l G T 3: 90,061,873 (GRCm39) R684L probably damaging Het
Obi1 T C 14: 104,716,738 (GRCm39) D545G probably damaging Het
Obp2b A G 2: 25,629,293 (GRCm39) S154G possibly damaging Het
Or10ag59 A G 2: 87,406,282 (GRCm39) T285A probably benign Het
Or4f57 A G 2: 111,790,980 (GRCm39) V146A probably benign Het
Or51b6b T A 7: 103,310,053 (GRCm39) T135S probably benign Het
Or5p1 A T 7: 107,916,682 (GRCm39) I194F probably benign Het
Polr3b A T 10: 84,467,704 (GRCm39) R95* probably null Het
Prelid2 C T 18: 42,070,714 (GRCm39) V40M probably benign Het
Ptprb T G 10: 116,208,781 (GRCm39) L2205R probably damaging Het
R3hcc1l T C 19: 42,551,240 (GRCm39) V79A probably benign Het
Stam2 A G 2: 52,598,162 (GRCm39) I259T probably damaging Het
Tdpoz4 A T 3: 93,704,189 (GRCm39) N162I possibly damaging Het
Tuba3a A G 6: 125,259,721 (GRCm39) V75A possibly damaging Het
Vmn2r73 A T 7: 85,506,757 (GRCm39) *852K probably null Het
Zfp7 C T 15: 76,772,505 (GRCm39) Q69* probably null Het
Zfp865 G T 7: 5,032,875 (GRCm39) A287S probably benign Het
Zmpste24 T A 4: 120,955,081 (GRCm39) Q39L probably benign Het
Other mutations in Cxcl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Cxcl1 APN 5 91,039,434 (GRCm39) missense probably damaging 1.00
IGL01585:Cxcl1 APN 5 91,039,583 (GRCm39) missense probably damaging 1.00
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 2014-01-21