Incidental Mutation 'IGL01720:Cx3cl1'
ID 105045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cx3cl1
Ensembl Gene ENSMUSG00000031778
Gene Name C-X3-C motif chemokine ligand 1
Synonyms D8Bwg0439e, CX3C, neurotactin, fractalkine, Scyd1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01720
Quality Score
Status
Chromosome 8
Chromosomal Location 95498808-95509055 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95504701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 39 (M39K)
Ref Sequence ENSEMBL: ENSMUSP00000034230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034230] [ENSMUST00000135970] [ENSMUST00000150307] [ENSMUST00000211947] [ENSMUST00000211956]
AlphaFold O35188
Predicted Effect probably damaging
Transcript: ENSMUST00000034230
AA Change: M39K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034230
Gene: ENSMUSG00000031778
AA Change: M39K

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCY 29 89 4.23e-17 SMART
low complexity region 132 143 N/A INTRINSIC
low complexity region 218 236 N/A INTRINSIC
transmembrane domain 341 360 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135970
Predicted Effect probably benign
Transcript: ENSMUST00000150307
SMART Domains Protein: ENSMUSP00000123538
Gene: ENSMUSG00000031778

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151783
Predicted Effect probably benign
Transcript: ENSMUST00000211947
Predicted Effect probably benign
Transcript: ENSMUST00000211956
AA Change: M39K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show a specific reduction in Gr1(low) monocyte levels, and increased neuronal cell loss in a neurotoxin (MPTP)-induced model of Parkinson disease. Mice homozygous for a different knock-out allele are less susceptible to cerebral ischemia-reperfusion injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,605,076 (GRCm39) R1773Q probably benign Het
Apc2 T C 10: 80,150,333 (GRCm39) S1796P probably benign Het
Asxl3 A T 18: 22,658,382 (GRCm39) I2131F probably damaging Het
Cdc42bpa T A 1: 179,938,847 (GRCm39) D833E probably damaging Het
Cenpc1 A G 5: 86,193,284 (GRCm39) S202P possibly damaging Het
Cenpf T C 1: 189,414,583 (GRCm39) E178G probably benign Het
Cenpf T C 1: 189,383,412 (GRCm39) Y2636C probably damaging Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Chkb C T 15: 89,312,155 (GRCm39) probably null Het
Cldn20 A G 17: 3,583,375 (GRCm39) T183A probably benign Het
Cpne8 C T 15: 90,385,703 (GRCm39) V442I probably benign Het
Dgkd T A 1: 87,864,487 (GRCm39) L124Q probably damaging Het
Duxf4 A C 10: 58,072,211 (GRCm39) M1R probably null Het
Fam180a T C 6: 35,290,500 (GRCm39) H161R probably benign Het
Galt C A 4: 41,757,463 (GRCm39) R212S probably damaging Het
Gja10 T C 4: 32,601,007 (GRCm39) D459G probably benign Het
Glb1 T C 9: 114,249,573 (GRCm39) probably null Het
Gm5709 A T 3: 59,513,975 (GRCm39) noncoding transcript Het
Igf2r A G 17: 12,920,200 (GRCm39) Y1380H probably damaging Het
Jag1 C T 2: 136,929,023 (GRCm39) G811D probably damaging Het
Lrguk T C 6: 34,020,412 (GRCm39) F52S probably damaging Het
Lrrc15 A T 16: 30,092,138 (GRCm39) N400K probably benign Het
Map3k12 A G 15: 102,410,621 (GRCm39) probably benign Het
Mbnl2 C T 14: 120,562,682 (GRCm39) T11I probably damaging Het
Mettl22 T C 16: 8,302,117 (GRCm39) probably benign Het
Mgat4a G A 1: 37,483,979 (GRCm39) A497V probably damaging Het
Mrpl49 C A 19: 6,105,187 (GRCm39) M91I possibly damaging Het
Or2ag18 A T 7: 106,405,416 (GRCm39) D84E probably damaging Het
Or2q1 G A 6: 42,794,527 (GRCm39) V41I probably benign Het
Pcdhb5 T G 18: 37,454,075 (GRCm39) S152A probably benign Het
Ppp1r13b T C 12: 111,824,694 (GRCm39) T102A probably benign Het
Pramel23 T A 4: 143,423,410 (GRCm39) probably benign Het
Prodh2 A G 7: 30,210,628 (GRCm39) D393G probably damaging Het
Pyroxd1 A G 6: 142,296,784 (GRCm39) probably benign Het
Rad17 A T 13: 100,759,366 (GRCm39) C554S possibly damaging Het
Rapgef5 T C 12: 117,577,055 (GRCm39) probably benign Het
Setdb2 A G 14: 59,660,885 (GRCm39) V86A possibly damaging Het
Slc38a2 A T 15: 96,589,092 (GRCm39) probably benign Het
Slc9c1 A G 16: 45,376,132 (GRCm39) Y406C probably damaging Het
Slit1 T C 19: 41,622,653 (GRCm39) D702G probably benign Het
Stat3 T C 11: 100,794,484 (GRCm39) H275R possibly damaging Het
Susd5 T A 9: 113,893,052 (GRCm39) N43K possibly damaging Het
Ttc3 A T 16: 94,186,228 (GRCm39) K124N probably damaging Het
Usp36 C A 11: 118,165,828 (GRCm39) R165L probably damaging Het
Vwf G A 6: 125,619,798 (GRCm39) R1492Q possibly damaging Het
Zbed6 A G 1: 133,585,264 (GRCm39) V691A possibly damaging Het
Other mutations in Cx3cl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02044:Cx3cl1 APN 8 95,507,168 (GRCm39) missense probably damaging 1.00
IGL02309:Cx3cl1 APN 8 95,506,660 (GRCm39) missense probably benign
R1749:Cx3cl1 UTSW 8 95,506,789 (GRCm39) splice site probably null
R1876:Cx3cl1 UTSW 8 95,507,048 (GRCm39) missense probably damaging 1.00
R1905:Cx3cl1 UTSW 8 95,506,687 (GRCm39) missense probably benign 0.03
R2131:Cx3cl1 UTSW 8 95,506,201 (GRCm39) missense probably benign 0.03
R3547:Cx3cl1 UTSW 8 95,504,752 (GRCm39) missense possibly damaging 0.66
R3826:Cx3cl1 UTSW 8 95,503,934 (GRCm39) intron probably benign
R3827:Cx3cl1 UTSW 8 95,503,934 (GRCm39) intron probably benign
R3828:Cx3cl1 UTSW 8 95,503,934 (GRCm39) intron probably benign
R3829:Cx3cl1 UTSW 8 95,503,934 (GRCm39) intron probably benign
R4461:Cx3cl1 UTSW 8 95,507,184 (GRCm39) makesense probably null
R4705:Cx3cl1 UTSW 8 95,506,835 (GRCm39) missense probably benign 0.32
R4998:Cx3cl1 UTSW 8 95,507,053 (GRCm39) missense probably damaging 1.00
R5165:Cx3cl1 UTSW 8 95,506,504 (GRCm39) missense probably benign 0.04
R7150:Cx3cl1 UTSW 8 95,506,591 (GRCm39) missense probably damaging 1.00
R7726:Cx3cl1 UTSW 8 95,506,867 (GRCm39) missense probably damaging 1.00
R8346:Cx3cl1 UTSW 8 95,507,168 (GRCm39) missense probably damaging 1.00
R8677:Cx3cl1 UTSW 8 95,506,443 (GRCm39) missense probably benign 0.43
R8706:Cx3cl1 UTSW 8 95,506,876 (GRCm39) missense probably benign 0.21
R8707:Cx3cl1 UTSW 8 95,506,375 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21