Incidental Mutation 'R6268:Csf1'
ID 507138
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 044439-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R6268 (G1)
Quality Score 217.009
Status Validated
Chromosome 3
Chromosomal Location 107648364-107667785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 107654473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 132 (S132R)
Ref Sequence ENSEMBL: ENSMUSP00000112832 (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: S521R

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: S521R

DomainStartEndE-ValueType
Pfam:CSF-1 1 254 6.8e-91 PFAM
Pfam:CSF-1 272 552 1.1e-147 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000118593
AA Change: S226R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113136
Gene: ENSMUSG00000014599
AA Change: S226R

DomainStartEndE-ValueType
Pfam:CSF-1 1 257 9.5e-123 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120243
AA Change: S521R

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: S521R

DomainStartEndE-ValueType
Pfam:CSF-1 1 254 6.8e-91 PFAM
Pfam:CSF-1 272 552 1.1e-147 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120654
AA Change: S132R

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112832
Gene: ENSMUSG00000014599
AA Change: S132R

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 benign
Transcript: ENSMUST00000156820
SMART Domains Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599

DomainStartEndE-ValueType
Pfam:CSF-1 15 142 6e-37 PFAM
Pfam:CSF-1 160 279 4.9e-52 PFAM
Meta Mutation Damage Score 0.0911 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 99% (68/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
Afg3l1 A T 8: 124,219,665 (GRCm39) I398F probably damaging Het
Ahctf1 T C 1: 179,591,048 (GRCm39) H1244R probably benign Het
Ank1 A T 8: 23,599,687 (GRCm39) K797N probably damaging Het
Anxa6 G T 11: 54,877,903 (GRCm39) probably null Het
Aoc1l1 T A 6: 48,954,616 (GRCm39) Y585N probably benign Het
Ap1b1 T A 11: 4,969,493 (GRCm39) V310E probably damaging Het
C2cd2l T C 9: 44,228,963 (GRCm39) I123V probably damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Cfap54 T A 10: 92,874,771 (GRCm39) I542F probably damaging Het
Cfap57 G T 4: 118,426,648 (GRCm39) Y1100* probably null Het
Coq9 A G 8: 95,576,862 (GRCm39) E158G probably benign Het
Cox15 A T 19: 43,728,365 (GRCm39) W303R possibly damaging Het
Cpa5 A G 6: 30,615,172 (GRCm39) Y103C probably damaging Het
Crygn A T 5: 24,961,189 (GRCm39) V39E probably damaging Het
Dapk1 G A 13: 60,909,580 (GRCm39) V1398M possibly damaging Het
Degs2 C A 12: 108,658,839 (GRCm39) V47L probably damaging Het
Dock5 C A 14: 68,027,724 (GRCm39) E1057* probably null Het
Dsg1b C A 18: 20,521,220 (GRCm39) Q26K probably benign Het
Elp1 T C 4: 56,762,305 (GRCm39) Y1098C probably damaging Het
Fam181a T C 12: 103,282,803 (GRCm39) V236A possibly damaging Het
Fam78b C A 1: 166,906,122 (GRCm39) P94T probably damaging Het
Fbxw25 T G 9: 109,483,718 (GRCm39) T165P probably damaging Het
Flg C A 3: 93,195,482 (GRCm39) probably benign Het
Frrs1 G T 3: 116,696,748 (GRCm39) V573F probably damaging Het
Gm7298 A G 6: 121,756,032 (GRCm39) T964A possibly damaging Het
Hoxd9 G T 2: 74,528,433 (GRCm39) V12L probably damaging Het
Kcnt1 A G 2: 25,793,609 (GRCm39) probably null Het
Klhl3 G T 13: 58,161,656 (GRCm39) R480S probably damaging Het
Klhl36 A G 8: 120,597,406 (GRCm39) D369G probably damaging Het
Lama3 T A 18: 12,657,794 (GRCm39) N303K probably damaging Het
Lhcgr T C 17: 89,050,132 (GRCm39) T465A probably damaging Het
Llgl1 T C 11: 60,602,989 (GRCm39) V888A probably benign Het
Lrp1b T A 2: 40,711,729 (GRCm39) T3164S probably benign Het
Mmp3 T G 9: 7,447,622 (GRCm39) D202E possibly damaging Het
Mocs1 C A 17: 49,742,183 (GRCm39) T104K probably damaging Het
Mrpl42 A T 10: 95,332,569 (GRCm39) probably null Het
Mtch2 T C 2: 90,693,992 (GRCm39) C279R probably benign Het
Muc4 A T 16: 32,589,141 (GRCm39) D2836V probably damaging Het
Myh7 T C 14: 55,226,741 (GRCm39) E370G probably benign Het
Naa11 A G 5: 97,540,069 (GRCm39) Y30H probably damaging Het
Ntng1 T C 3: 109,842,351 (GRCm39) T141A probably damaging Het
Or5h26 A C 16: 58,987,656 (GRCm39) probably null Het
Or8c11 T C 9: 38,289,384 (GRCm39) I69T probably benign Het
Or9i14 A T 19: 13,792,671 (GRCm39) Y94* probably null Het
Pcdha12 G A 18: 37,155,477 (GRCm39) C732Y possibly damaging Het
Plekhm2 G A 4: 141,359,652 (GRCm39) Q392* probably null Het
Prr22 G A 17: 57,078,587 (GRCm39) V247M probably damaging Het
Rapgef6 T A 11: 54,540,073 (GRCm39) L716Q probably damaging Het
Rasgrp4 G A 7: 28,842,493 (GRCm39) V246I probably damaging Het
Rhbdd2 C T 5: 135,672,114 (GRCm39) T323I probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Scgb2b20 A T 7: 33,063,973 (GRCm39) I99K possibly damaging Het
Scyl3 C T 1: 163,773,786 (GRCm39) R324* probably null Het
Slc23a1 T C 18: 35,752,624 (GRCm39) Y551C probably damaging Het
Slc5a5 A T 8: 71,341,264 (GRCm39) S358R probably damaging Het
Sorcs3 T A 19: 48,778,605 (GRCm39) N1007K probably damaging Het
Stxbp4 T A 11: 90,431,027 (GRCm39) K428* probably null Het
Tmem63c T A 12: 87,128,727 (GRCm39) I584N probably damaging Het
Traf3ip3 C T 1: 192,880,344 (GRCm39) probably benign Het
Trgv2 G A 13: 19,521,001 (GRCm39) T31I probably benign Het
Ttll3 C T 6: 113,369,524 (GRCm39) R23C probably benign Het
Ugt2a3 A C 5: 87,477,472 (GRCm39) L309R probably damaging Het
Urb1 A G 16: 90,550,807 (GRCm39) M2015T probably benign Het
Vmn2r14 A C 5: 109,369,283 (GRCm39) S97A possibly damaging Het
Vps13c C A 9: 67,858,731 (GRCm39) T2727K probably benign Het
Xrn1 T A 9: 95,846,067 (GRCm39) I40K probably damaging Het
Zc3h11a A G 1: 133,552,295 (GRCm39) V604A probably benign Het
Zfp410 G A 12: 84,378,612 (GRCm39) R259H probably benign Het
Zfp748 A G 13: 67,690,705 (GRCm39) V185A possibly damaging 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
R6269:Csf1 UTSW 3 107,656,317 (GRCm39) missense probably benign 0.04
R6273:Csf1 UTSW 3 107,656,479 (GRCm39) missense probably damaging 1.00
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'- AGCTCCACTGTCATGGGAAG -3'
(R):5'- GGGCCTATAGGTGGTATTCTACATG -3'

Sequencing Primer
(F):5'- AAGAAGAGGGGCCCTTCTTTC -3'
(R):5'- GGTATTCTACATGGGAGGGGAC -3'
Posted On 2018-03-15