Incidental Mutation 'IGL02745:Csf3'
ID 306118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf3
Ensembl Gene ENSMUSG00000038067
Gene Name colony stimulating factor 3 (granulocyte)
Synonyms MGI-IG, G-CSF, Csfg
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02745
Quality Score
Status
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: ENSMUST00000139849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156378
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. 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,282 (GRCm39) E167G probably benign Het
Aldh1a1 A G 19: 20,614,028 (GRCm39) probably benign Het
Ankrd44 T C 1: 54,805,950 (GRCm39) H152R probably damaging Het
Bpifb4 T A 2: 153,789,141 (GRCm39) L316Q probably damaging Het
C2cd5 A T 6: 142,987,256 (GRCm39) L155I probably benign Het
Chrdl2 T A 7: 99,670,170 (GRCm39) C98S probably damaging Het
Clnk A G 5: 38,893,662 (GRCm39) S232P probably benign Het
Dnah7b T A 1: 46,234,189 (GRCm39) probably benign Het
Fetub T C 16: 22,756,676 (GRCm39) V259A probably damaging Het
Gga2 G T 7: 121,607,592 (GRCm39) R108S probably damaging Het
Hip1r C A 5: 124,129,002 (GRCm39) probably null Het
Hsd17b3 A G 13: 64,234,990 (GRCm39) F62L probably benign Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Man1a C T 10: 53,853,206 (GRCm39) R304Q probably damaging Het
Med17 A G 9: 15,176,642 (GRCm39) probably benign Het
Mrgprb4 T C 7: 47,848,106 (GRCm39) Y274C probably damaging Het
Myh8 C T 11: 67,188,327 (GRCm39) T996I possibly damaging Het
Niban3 G T 8: 72,057,682 (GRCm39) probably null Het
Nlrp4e T A 7: 23,020,716 (GRCm39) L401Q probably damaging Het
Oas1h G A 5: 120,999,542 (GRCm39) R9Q probably benign Het
Or4c111 A G 2: 88,844,232 (GRCm39) Y59H probably damaging Het
Or4d10b C T 19: 12,036,565 (GRCm39) V184I probably benign Het
Or8g51 T C 9: 38,609,494 (GRCm39) H56R probably damaging Het
Otor A G 2: 142,923,076 (GRCm39) D122G possibly damaging Het
Pcdh18 T A 3: 49,710,340 (GRCm39) Q325L probably damaging Het
Ppfibp1 T C 6: 146,923,852 (GRCm39) probably benign Het
Pramel16 A T 4: 143,677,294 (GRCm39) L95Q probably damaging Het
Prlr T A 15: 10,328,680 (GRCm39) I385N possibly damaging Het
Rap1gds1 A G 3: 138,662,002 (GRCm39) V418A probably damaging Het
Rdh1 A T 10: 127,601,288 (GRCm39) T279S probably benign Het
Slc17a3 C A 13: 24,026,469 (GRCm39) Q13K probably benign Het
Slc22a20 T C 19: 6,022,901 (GRCm39) N414S probably damaging Het
Slc4a1 C A 11: 102,247,093 (GRCm39) C498F probably damaging Het
Sp8 G A 12: 118,813,326 (GRCm39) G394S probably damaging Het
Ssh2 C T 11: 77,346,233 (GRCm39) T1406I probably damaging Het
Stra6 T A 9: 58,059,321 (GRCm39) D561E probably damaging Het
Stxbp5l G A 16: 37,007,016 (GRCm39) Q726* probably null Het
Synpo2 G A 3: 122,907,261 (GRCm39) T685I probably damaging Het
Tasor2 A T 13: 3,635,140 (GRCm39) S556T probably benign Het
Ttc27 A G 17: 75,046,728 (GRCm39) D263G probably benign Het
Ttn G A 2: 76,594,332 (GRCm39) P18793S possibly damaging Het
Vmn2r109 A G 17: 20,761,512 (GRCm39) V615A probably damaging Het
Vmn2r76 T G 7: 85,879,495 (GRCm39) K268N probably benign Het
Zeb2 A G 2: 44,884,487 (GRCm39) probably benign Het
Zfp286 C A 11: 62,671,700 (GRCm39) K124N probably damaging Het
Other mutations in Csf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16