Incidental Mutation 'R1210:Csf3'
ID 100656
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 039279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1210 (G1)
Quality Score 178
Status Not validated
Chromosome 11
Chromosomal Location 98592089-98594455 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98593303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 140 (D140G)
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: D140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037762
Gene: ENSMUSG00000038067
AA Change: D140G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139849
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 93.9%
  • 20x: 83.8%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh15 G C 8: 123,584,234 (GRCm39) E112Q probably damaging Het
Clec7a T C 6: 129,442,488 (GRCm39) I180V probably damaging Het
Cwf19l2 T C 9: 3,430,810 (GRCm39) S381P probably benign Het
Eef1b2 A G 1: 63,216,432 (GRCm39) D21G probably damaging Het
Fam83a A T 15: 57,858,644 (GRCm39) Y228F possibly damaging Het
Gm5422 A G 10: 31,126,719 (GRCm39) noncoding transcript Het
Itga5 A G 15: 103,265,900 (GRCm39) V149A possibly damaging Het
Lrrfip1 A G 1: 91,042,915 (GRCm39) H440R probably benign Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mindy4 T A 6: 55,261,798 (GRCm39) L569H possibly damaging Het
Mme A G 3: 63,251,027 (GRCm39) K356R probably benign Het
Nfkb1 A G 3: 135,300,688 (GRCm39) I626T probably benign Het
Or2f1b T C 6: 42,739,601 (GRCm39) V205A possibly damaging Het
Or2t6 T C 14: 14,176,029 (GRCm38) T18A probably benign Het
Or4c100 G C 2: 88,356,620 (GRCm39) R231P possibly damaging Het
Or5k1b T C 16: 58,581,413 (GRCm39) N42S probably damaging Het
Rock2 T A 12: 17,015,470 (GRCm39) V789D probably damaging Het
Sav1 A G 12: 70,015,953 (GRCm39) Y282H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r89 T C 14: 51,692,427 (GRCm39) F77L probably benign Het
Vps50 G A 6: 3,594,884 (GRCm39) V816I probably damaging Het
Other mutations in Csf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02745:Csf3 APN 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
R5795:Csf3 UTSW 11 98,592,853 (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'- TGTGCCACCTACAAGCTGTGTC -3'
(R):5'- ACAGAGTCTGTCTGTCTCTCAGCC -3'

Sequencing Primer
(F):5'- ggaggagaagggggagg -3'
(R):5'- TGTCTCTCAGCCTGGAGGAAG -3'
Posted On 2014-01-15