Incidental Mutation 'R5795:Csf3'
ID 501524
Institutional Source Beutler Lab
Gene Symbol Csf3
Ensembl Gene ENSMUSG00000038067
Gene Name colony stimulating factor 3 (granulocyte)
Synonyms MGI-IG, G-CSF, Csfg
MMRRC Submission 043386-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R5795 (G1)
Quality Score 143
Status Not validated
Chromosome 11
Chromosomal Location 98592089-98594455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98592853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 72 (C72F)
Ref Sequence ENSEMBL: ENSMUSP00000037762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017354] [ENSMUST00000038886] [ENSMUST00000100500] [ENSMUST00000138750]
AlphaFold P09920
Predicted Effect probably benign
Transcript: ENSMUST00000017354
SMART Domains Protein: ENSMUSP00000017354
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 985 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000038886
AA Change: C72F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067
AA Change: C72F

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 31 54 N/A INTRINSIC
IL6 57 205 3.59e-48 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100500
SMART Domains Protein: ENSMUSP00000098069
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 1004 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125064
Predicted Effect probably benign
Transcript: ENSMUST00000138750
SMART Domains Protein: ENSMUSP00000120002
Gene: ENSMUSG00000017210

DomainStartEndE-ValueType
Pfam:Med24_N 1 46 1.4e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156378
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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. The active protein is found extracellularly. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit chronic neutropenia, with severely reduced peripheral blood neutrophil levels, and reduced resistance to Listeria monocytogenes infection. Heterozygotes have intermediate neutrophil levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,186,688 (GRCm39) V261A probably benign Het
Adipor1 C A 1: 134,352,641 (GRCm39) N137K probably damaging Het
Ahnak A T 19: 8,989,746 (GRCm39) K3677* probably null Het
Ankrd24 C A 10: 81,480,937 (GRCm39) probably benign Het
Appl1 G T 14: 26,664,773 (GRCm39) P420Q probably benign Het
Bmp8b C A 4: 123,015,761 (GRCm39) F249L possibly damaging Het
Brat1 G T 5: 140,698,827 (GRCm39) A275S probably benign Het
C5ar1 T C 7: 15,982,319 (GRCm39) K234E possibly damaging Het
Cblif A G 19: 11,737,740 (GRCm39) T384A probably damaging Het
Ccs A G 19: 4,883,367 (GRCm39) probably null Het
Chmp5 T G 4: 40,950,562 (GRCm39) probably null Het
Chrna3 T A 9: 54,922,552 (GRCm39) T419S probably benign Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Dbndd1 A G 8: 124,236,619 (GRCm39) I83T probably damaging Het
Ercc6 A G 14: 32,248,309 (GRCm39) K287E probably damaging Het
F5 C T 1: 163,979,578 (GRCm39) T16I probably benign Het
Hephl1 C T 9: 14,981,056 (GRCm39) G792E probably damaging Het
Hmmr T A 11: 40,612,733 (GRCm39) D158V probably damaging Het
Hsd11b1 A G 1: 192,922,940 (GRCm39) S76P possibly damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Irf7 G A 7: 140,845,029 (GRCm39) P118L probably damaging Het
Lama1 A G 17: 68,103,722 (GRCm39) N1981S probably benign Het
Lrp4 A G 2: 91,304,816 (GRCm39) D224G probably benign Het
Mink1 T C 11: 70,498,616 (GRCm39) Y594H possibly damaging Het
Minpp1 G A 19: 32,491,557 (GRCm39) V412M probably damaging Het
Muc5b G A 7: 141,425,478 (GRCm39) V4708M possibly damaging Het
Mycl G A 4: 122,890,415 (GRCm39) E34K probably damaging Het
Oaf T A 9: 43,135,241 (GRCm39) D179V probably damaging Het
Ogfod2 G A 5: 124,252,824 (GRCm39) G278D probably damaging Het
Or2h1 A G 17: 37,404,661 (GRCm39) L35P probably damaging Het
Or5b12 A G 19: 12,897,188 (GRCm39) F162L possibly damaging Het
Paf1 T G 7: 28,096,043 (GRCm39) M250R probably damaging Het
Pcdh8 T C 14: 80,008,420 (GRCm39) T48A possibly damaging Het
Pdzph1 A G 17: 59,192,862 (GRCm39) V1096A possibly damaging Het
Polr3b T C 10: 84,512,875 (GRCm39) S586P probably damaging Het
Polr3b A T 10: 84,464,116 (GRCm39) E25D probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,348,475 (GRCm39) M274T possibly damaging Het
Slc31a2 T C 4: 62,215,289 (GRCm39) V112A probably damaging Het
Spire1 A T 18: 67,628,265 (GRCm39) S412T probably benign Het
Tanc1 A G 2: 59,637,926 (GRCm39) T876A possibly damaging Het
Tango6 T A 8: 107,444,709 (GRCm39) L538H probably damaging Het
Tas2r125 G A 6: 132,886,621 (GRCm39) G3D probably damaging Het
Tbc1d32 A T 10: 56,091,158 (GRCm39) M125K possibly damaging Het
Traf5 T C 1: 191,731,807 (GRCm39) S345G probably benign Het
Ush2a A T 1: 188,175,594 (GRCm39) I1231F probably benign Het
Vmn2r104 G T 17: 20,250,372 (GRCm39) T633N probably benign Het
Vmn2r104 A G 17: 20,250,544 (GRCm39) S576P possibly damaging Het
Vmn2r105 A T 17: 20,448,998 (GRCm39) C60S probably benign Het
Zfp316 A T 5: 143,248,594 (GRCm39) D217E unknown Het
Zfp456 A T 13: 67,515,039 (GRCm39) D222E probably benign Het
Other mutations in Csf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02745:Csf3 APN 11 98,593,303 (GRCm39) missense probably damaging 1.00
R1210:Csf3 UTSW 11 98,593,303 (GRCm39) missense probably damaging 1.00
R1769:Csf3 UTSW 11 98,593,246 (GRCm39) missense probably damaging 1.00
R2041:Csf3 UTSW 11 98,592,483 (GRCm39) missense possibly damaging 0.49
R5112:Csf3 UTSW 11 98,593,749 (GRCm39) missense probably damaging 1.00
R6825:Csf3 UTSW 11 98,593,273 (GRCm39) missense probably damaging 1.00
R7985:Csf3 UTSW 11 98,593,273 (GRCm39) missense probably damaging 1.00
R8473:Csf3 UTSW 11 98,592,928 (GRCm39) missense probably damaging 1.00
R9689:Csf3 UTSW 11 98,592,949 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGGCACCCTCAGAATACTGAC -3'
(R):5'- GGGATGCTTGCTCTCTTCAG -3'

Sequencing Primer
(F):5'- CTCAGAATACTGACAGAAACATTGAG -3'
(R):5'- TCTCTTCAGGAGCCCAAATAGTAGG -3'
Posted On 2017-12-01