Incidental Mutation 'IGL01940:Csf2'
ID 180846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf2
Ensembl Gene ENSMUSG00000018916
Gene Name colony stimulating factor 2 (granulocyte-macrophage)
Synonyms Gm-CSf, Csfgm, MGI-IGM, GMCSF
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL01940
Quality Score
Status
Chromosome 11
Chromosomal Location 54138097-54140493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54140351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 29 (P29H)
Ref Sequence ENSEMBL: ENSMUSP00000019060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019060]
AlphaFold P01587
Predicted Effect probably damaging
Transcript: ENSMUST00000019060
AA Change: P29H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019060
Gene: ENSMUSG00000018916
AA Change: P29H

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CSF2 18 135 2.1e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135468
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit lung abnormalities with lymphocytic infiltration and accumulation of surfactant lipids. Litter sizes from homozygous breeding pairs are smaller at weaning due to perinatal mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,517,661 (GRCm39) probably benign Het
Ahnak A T 19: 8,983,921 (GRCm39) D1735V probably benign Het
Alkbh3 G A 2: 93,811,940 (GRCm39) T231I probably damaging Het
Ap4e1 T C 2: 126,885,431 (GRCm39) V344A probably damaging Het
Brip1 T A 11: 85,955,792 (GRCm39) D907V probably benign Het
Clca3a1 A T 3: 144,452,737 (GRCm39) M582K probably benign Het
Cyp2d26 C T 15: 82,676,758 (GRCm39) R196H probably benign Het
Dagla A G 19: 10,229,535 (GRCm39) V575A probably benign Het
Dimt1 T A 13: 107,085,206 (GRCm39) probably benign Het
Ei24 A T 9: 36,693,687 (GRCm39) F288L probably damaging Het
Fam107a T C 14: 8,298,766 (GRCm38) H120R probably benign Het
Fancl G T 11: 26,409,752 (GRCm39) V203F probably damaging Het
Fgd6 T A 10: 93,925,512 (GRCm39) probably null Het
Flrt2 A G 12: 95,747,012 (GRCm39) Y450C probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ift122 A G 6: 115,864,332 (GRCm39) probably benign Het
Kcnk13 A G 12: 100,027,683 (GRCm39) S253G probably benign Het
Lcp1 A T 14: 75,453,805 (GRCm39) N469I probably benign Het
Lrrc24 T C 15: 76,600,257 (GRCm39) Y294C probably damaging Het
Odam C A 5: 88,035,192 (GRCm39) S52Y possibly damaging Het
Or14j7 C T 17: 38,235,177 (GRCm39) T240I probably damaging Het
Or4a71 T A 2: 89,358,154 (GRCm39) N200I probably damaging Het
Or51i2 A G 7: 103,689,129 (GRCm39) N42S probably damaging Het
Pkd1 G T 17: 24,798,720 (GRCm39) R2676L possibly damaging Het
Plec T C 15: 76,064,529 (GRCm39) D1915G probably damaging Het
Ptbp2 A G 3: 119,519,764 (GRCm39) V9A possibly damaging Het
Ptk2b A G 14: 66,396,062 (GRCm39) I802T probably benign Het
Rabgap1 G T 2: 37,377,079 (GRCm39) A304S probably damaging Het
Sema3f T C 9: 107,560,896 (GRCm39) probably benign Het
Serpinb3a A T 1: 106,973,915 (GRCm39) V332E probably damaging Het
Skil T A 3: 31,165,793 (GRCm39) M370K probably benign Het
Slc25a1 T A 16: 17,744,304 (GRCm39) Y209F probably benign Het
Smim15 A G 13: 108,184,164 (GRCm39) K57E probably damaging Het
Taar3 T A 10: 23,825,855 (GRCm39) C134S probably damaging Het
Tns4 C T 11: 98,959,047 (GRCm39) S684N probably benign Het
Vmn2r58 A G 7: 41,487,071 (GRCm39) V608A probably benign Het
Zbtb26 A T 2: 37,325,987 (GRCm39) C350S possibly damaging Het
Other mutations in Csf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03155:Csf2 APN 11 54,138,497 (GRCm39) missense possibly damaging 0.95
R1482:Csf2 UTSW 11 54,139,389 (GRCm39) missense probably benign 0.12
R1964:Csf2 UTSW 11 54,139,284 (GRCm39) missense probably benign 0.39
R4049:Csf2 UTSW 11 54,140,159 (GRCm39) missense probably damaging 0.96
R4799:Csf2 UTSW 11 54,140,306 (GRCm39) missense probably benign 0.06
R5402:Csf2 UTSW 11 54,138,489 (GRCm39) nonsense probably null
R5948:Csf2 UTSW 11 54,138,514 (GRCm39) missense probably benign 0.21
R9751:Csf2 UTSW 11 54,140,420 (GRCm39) nonsense probably null
Posted On 2014-05-07