Incidental Mutation 'R6273:Csf1'
ID 529376
Institutional Source Beutler Lab
Gene Symbol Csf1
Ensembl Gene ENSMUSG00000014599
Gene Name colony stimulating factor 1 (macrophage)
Synonyms BAP025, M-CSF, Csfm, CSF-1, colony-stimulating factor-1
MMRRC Submission 044443-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R6273 (G1)
Quality Score 63.0073
Status Validated
Chromosome 3
Chromosomal Location 107648364-107667785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107656479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 72 (V72A)
Ref Sequence ENSEMBL: ENSMUSP00000119553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014743] [ENSMUST00000118593] [ENSMUST00000120243] [ENSMUST00000120654] [ENSMUST00000153114] [ENSMUST00000156820]
AlphaFold P07141
Predicted Effect probably benign
Transcript: ENSMUST00000014743
AA Change: V184A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: V184A

DomainStartEndE-ValueType
Pfam:CSF-1 1 254 6.8e-91 PFAM
Pfam:CSF-1 272 552 1.1e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118593
SMART Domains Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599

DomainStartEndE-ValueType
Pfam:CSF-1 1 257 9.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120243
AA Change: V184A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: V184A

DomainStartEndE-ValueType
Pfam:CSF-1 1 254 6.8e-91 PFAM
Pfam:CSF-1 272 552 1.1e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120654
SMART Domains Protein: ENSMUSP00000112832
Gene: ENSMUSG00000014599

DomainStartEndE-ValueType
Pfam:CSF-1 31 163 1.7e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153114
SMART Domains Protein: ENSMUSP00000115480
Gene: ENSMUSG00000014599

DomainStartEndE-ValueType
Pfam:CSF-1 26 182 1.1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155557
Predicted Effect probably damaging
Transcript: ENSMUST00000156820
AA Change: V72A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599
AA Change: V72A

DomainStartEndE-ValueType
Pfam:CSF-1 15 142 6e-37 PFAM
Pfam:CSF-1 160 279 4.9e-52 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (78/80)
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 macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit lack of incisors, a broad domed skull, short thick limb bones with reduced marrow cavities, impaired hearing and vision, and reduced fertility in females. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,561 (GRCm39) I99N probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd31 A G 13: 96,988,181 (GRCm39) I1065V possibly damaging Het
Aox1 A G 1: 58,378,831 (GRCm39) T1027A probably benign Het
Atm G A 9: 53,399,222 (GRCm39) P1593L probably benign Het
Atp13a5 T G 16: 29,167,555 (GRCm39) I132L probably benign Het
BC035044 A G 6: 128,867,852 (GRCm39) probably benign Het
Cadm3 CT C 1: 173,176,691 (GRCm39) probably benign Homo
Car3 C T 3: 14,936,677 (GRCm39) P247S probably benign Het
Ccdc7a T C 8: 129,513,819 (GRCm39) Y160C probably damaging Het
Cd1d1 A G 3: 86,905,564 (GRCm39) V143A probably benign Het
Cemip2 T A 19: 21,779,369 (GRCm39) V393E probably damaging Het
Cog6 A T 3: 52,903,473 (GRCm39) F142I probably damaging Het
Cracd A T 5: 77,005,568 (GRCm39) D643V unknown Het
Crhr1 T G 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Cwc15 T A 9: 14,421,537 (GRCm39) I201K probably benign Het
Dgka T C 10: 128,559,515 (GRCm39) K482R probably benign Het
Dnah7b T C 1: 46,281,476 (GRCm39) S2846P possibly damaging Het
Dst T A 1: 34,314,347 (GRCm39) I4199N probably damaging Het
Dusp7 A G 9: 106,251,095 (GRCm39) T407A possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fem1a T C 17: 56,564,083 (GRCm39) Y59H possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Filip1 A T 9: 79,723,168 (GRCm39) D1150E probably benign Het
Gabra1 A G 11: 42,031,138 (GRCm39) V264A probably damaging Het
Gm4131 T C 14: 62,702,299 (GRCm39) E223G probably damaging Het
Gon4l T C 3: 88,763,156 (GRCm39) V333A probably damaging Het
Gsk3b A G 16: 38,028,408 (GRCm39) T289A probably benign Het
Hmcn2 T C 2: 31,301,846 (GRCm39) S2912P probably damaging Het
Htr7 A T 19: 36,018,969 (GRCm39) probably benign Het
Ibsp A G 5: 104,458,167 (GRCm39) T235A probably benign Het
Ints13 A T 6: 146,467,179 (GRCm39) D116E probably damaging Het
Irag1 G T 7: 110,470,790 (GRCm39) H848N probably benign Het
Kctd19 T C 8: 106,112,117 (GRCm39) N753S probably benign Het
Mdn1 A G 4: 32,715,979 (GRCm39) N2054D probably benign Het
Mink1 A T 11: 70,502,261 (GRCm39) K880* probably null Het
Myo15b T A 11: 115,753,625 (GRCm39) L824Q possibly damaging Het
Napepld T C 5: 21,870,320 (GRCm39) E366G probably benign Het
Obscn T A 11: 58,967,819 (GRCm39) T2662S possibly damaging Het
Or2g7 T G 17: 38,378,686 (GRCm39) L208R probably damaging Het
Or2n1b T A 17: 38,459,833 (GRCm39) M118K possibly damaging Het
Or4k52 T C 2: 111,611,567 (GRCm39) F301L probably benign Het
Or52p1 A G 7: 104,267,102 (GRCm39) D72G probably damaging Het
Or5b12 A G 19: 12,896,764 (GRCm39) V303A probably benign Het
Or6d13 A G 6: 116,518,277 (GRCm39) T288A possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Panx3 T G 9: 37,578,725 (GRCm39) I85L probably benign Het
Pate4 T C 9: 35,519,086 (GRCm39) N94D probably benign Het
Pde4d A G 13: 110,086,755 (GRCm39) M610V possibly damaging Het
Pik3c2b T C 1: 132,994,449 (GRCm39) S138P probably benign Het
Pkn1 T C 8: 84,398,899 (GRCm39) N696S probably damaging Het
Plppr2 A G 9: 21,855,801 (GRCm39) E258G probably damaging Het
Plxnd1 A T 6: 115,955,453 (GRCm39) M538K probably damaging Het
Prepl G T 17: 85,390,696 (GRCm39) N87K probably benign Het
Prkag2 C A 5: 25,152,534 (GRCm39) R190L probably damaging Het
Rara A G 11: 98,861,048 (GRCm39) T179A probably benign Het
Rfx7 A G 9: 72,524,279 (GRCm39) K490E possibly damaging Het
Rgsl1 C T 1: 153,703,211 (GRCm39) V147M possibly damaging Het
Rph3a A G 5: 121,083,485 (GRCm39) I595T possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc8a2 T C 7: 15,879,259 (GRCm39) F582L possibly damaging Het
Sprr2e A G 3: 92,260,171 (GRCm39) M1V probably null Het
Steap1 T A 5: 5,790,827 (GRCm39) R40S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thsd7a A T 6: 12,408,835 (GRCm39) V729E probably damaging Het
Tmprss13 A G 9: 45,256,630 (GRCm39) Y525C probably damaging Het
Tnik A T 3: 28,631,649 (GRCm39) H383L possibly damaging Het
Vars1 T C 17: 35,232,719 (GRCm39) L881S probably damaging Het
Vmn1r201 A C 13: 22,659,385 (GRCm39) S200R probably damaging Het
Vmn2r130 A T 17: 23,295,759 (GRCm39) H643L probably benign Het
Vmn2r14 A T 5: 109,369,133 (GRCm39) W147R probably benign Het
Vps53 T C 11: 75,992,844 (GRCm39) E367G probably benign Het
Xab2 C T 8: 3,661,822 (GRCm39) G544S probably damaging Het
Ythdf3 T A 3: 16,259,020 (GRCm39) V400E possibly damaging Het
Zfand5 C T 19: 21,257,060 (GRCm39) P147S probably benign Het
Zfp768 A T 7: 126,944,319 (GRCm39) probably null Het
Zswim8 A G 14: 20,763,521 (GRCm39) M423V probably benign Het
Other mutations in Csf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00582:Csf1 APN 3 107,664,043 (GRCm39) missense probably benign 0.00
IGL00907:Csf1 APN 3 107,657,662 (GRCm39) missense probably damaging 1.00
IGL01644:Csf1 APN 3 107,661,158 (GRCm39) missense possibly damaging 0.84
R0022:Csf1 UTSW 3 107,661,178 (GRCm39) missense probably damaging 0.99
R0025:Csf1 UTSW 3 107,655,960 (GRCm39) missense probably benign
R0025:Csf1 UTSW 3 107,655,960 (GRCm39) missense probably benign
R0350:Csf1 UTSW 3 107,655,922 (GRCm39) missense probably benign 0.01
R1392:Csf1 UTSW 3 107,663,946 (GRCm39) missense probably benign 0.03
R1392:Csf1 UTSW 3 107,663,946 (GRCm39) missense probably benign 0.03
R1531:Csf1 UTSW 3 107,655,654 (GRCm39) missense possibly damaging 0.72
R1897:Csf1 UTSW 3 107,655,595 (GRCm39) missense probably damaging 1.00
R4373:Csf1 UTSW 3 107,664,055 (GRCm39) missense probably damaging 1.00
R4375:Csf1 UTSW 3 107,664,055 (GRCm39) missense probably damaging 1.00
R4376:Csf1 UTSW 3 107,664,055 (GRCm39) missense probably damaging 1.00
R4377:Csf1 UTSW 3 107,664,055 (GRCm39) missense probably damaging 1.00
R4469:Csf1 UTSW 3 107,657,997 (GRCm39) critical splice donor site probably null
R4474:Csf1 UTSW 3 107,661,172 (GRCm39) missense probably damaging 0.98
R4604:Csf1 UTSW 3 107,664,278 (GRCm39) splice site probably null
R4634:Csf1 UTSW 3 107,656,483 (GRCm39) missense probably damaging 0.96
R5086:Csf1 UTSW 3 107,656,026 (GRCm39) missense possibly damaging 0.72
R5156:Csf1 UTSW 3 107,656,252 (GRCm39) missense probably benign 0.01
R5425:Csf1 UTSW 3 107,656,212 (GRCm39) missense possibly damaging 0.96
R6120:Csf1 UTSW 3 107,661,170 (GRCm39) missense probably damaging 0.96
R6268:Csf1 UTSW 3 107,654,473 (GRCm39) missense possibly damaging 0.86
R6269:Csf1 UTSW 3 107,656,317 (GRCm39) missense probably benign 0.04
R6298:Csf1 UTSW 3 107,655,675 (GRCm39) missense possibly damaging 0.96
R7196:Csf1 UTSW 3 107,661,214 (GRCm39) missense possibly damaging 0.91
R7375:Csf1 UTSW 3 107,655,495 (GRCm39) missense possibly damaging 0.96
R7437:Csf1 UTSW 3 107,658,072 (GRCm39) missense probably benign 0.00
R7464:Csf1 UTSW 3 107,656,191 (GRCm39) missense probably benign 0.03
R7780:Csf1 UTSW 3 107,657,709 (GRCm39) missense probably damaging 0.96
R7808:Csf1 UTSW 3 107,667,361 (GRCm39) missense possibly damaging 0.70
R8153:Csf1 UTSW 3 107,656,020 (GRCm39) missense probably damaging 0.98
R8765:Csf1 UTSW 3 107,663,991 (GRCm39) missense probably benign 0.33
R9308:Csf1 UTSW 3 107,655,585 (GRCm39) missense probably benign
R9360:Csf1 UTSW 3 107,661,158 (GRCm39) missense possibly damaging 0.84
Z1177:Csf1 UTSW 3 107,656,396 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TATGCGAAGGGGAAGCTCAC -3'
(R):5'- AGTCCATATCCCCTGCGTATTG -3'

Sequencing Primer
(F):5'- GCTCACTGGGCAAGAGG -3'
(R):5'- CTGCCTGAGTTCTGTGTCATGATC -3'
Posted On 2018-08-01