Incidental Mutation 'R6298:Csf1'
ID 508879
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 044408-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R6298 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 107648364-107667785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107655675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 452 (L452Q)
Ref Sequence ENSEMBL: ENSMUSP00000113617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014743] [ENSMUST00000118593] [ENSMUST00000120243] [ENSMUST00000120654] [ENSMUST00000153114] [ENSMUST00000156820]
AlphaFold P07141
Predicted Effect possibly damaging
Transcript: ENSMUST00000014743
AA Change: L452Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: L452Q

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 possibly damaging
Transcript: ENSMUST00000120243
AA Change: L452Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: L452Q

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 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 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (79/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,539,833 (GRCm39) M733L probably benign Het
Acss3 G A 10: 106,920,717 (GRCm39) P131L probably damaging Het
Adgrv1 T A 13: 81,539,886 (GRCm39) I5678F probably benign Het
Aff1 C T 5: 103,902,586 (GRCm39) L6F possibly damaging Het
Ank3 G T 10: 69,686,006 (GRCm39) R273L probably damaging Het
Anks1b G A 10: 90,516,699 (GRCm39) G898D probably damaging Het
Anxa11 C T 14: 25,873,158 (GRCm39) P131S unknown Het
Ap4e1 T A 2: 126,889,035 (GRCm39) M500K probably benign Het
Bag3 T C 7: 128,141,922 (GRCm39) S138P probably damaging Het
Capn9 T C 8: 125,344,193 (GRCm39) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm39) W236R probably damaging Het
Cdh23 A T 10: 60,262,451 (GRCm39) Y702* probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cit A T 5: 116,086,124 (GRCm39) E896V probably damaging Het
Cntln T A 4: 85,014,998 (GRCm39) N1096K probably damaging Het
Cntnap5c T C 17: 58,411,747 (GRCm39) C544R probably damaging Het
Cts8 T A 13: 61,397,037 (GRCm39) K294N possibly damaging Het
Dcakd T G 11: 102,890,618 (GRCm39) E56D possibly damaging Het
Dnah17 T C 11: 117,998,987 (GRCm39) I929V probably benign Het
Dnah2 G T 11: 69,382,467 (GRCm39) H1214Q probably benign Het
Dock9 T C 14: 121,872,006 (GRCm39) D536G probably damaging Het
Drc3 A G 11: 60,284,596 (GRCm39) N467S possibly damaging Het
Dysf A G 6: 84,084,118 (GRCm39) probably null Het
Ecpas T G 4: 58,877,157 (GRCm39) T93P probably damaging Het
Evpl A T 11: 116,121,748 (GRCm39) L378Q probably damaging Het
Fer1l4 A T 2: 155,866,660 (GRCm39) H1520Q probably damaging Het
Fhod1 A T 8: 106,063,780 (GRCm39) probably benign Het
Gabra1 T A 11: 42,073,205 (GRCm39) probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm14137 A G 2: 119,005,572 (GRCm39) T44A possibly damaging Het
H2bl1 T A 13: 99,120,974 (GRCm39) R17S probably benign Het
Herc2 T C 7: 55,841,013 (GRCm39) M3444T probably benign Het
Igsf5 T C 16: 96,197,648 (GRCm39) S208P possibly damaging Het
Ino80b A G 6: 83,102,066 (GRCm39) L12P possibly damaging Het
Insrr A G 3: 87,720,272 (GRCm39) D970G probably damaging Het
Iqcf4 G A 9: 106,445,874 (GRCm39) A91V probably benign Het
Itga10 A G 3: 96,564,078 (GRCm39) T911A probably benign Het
Katnip T C 7: 125,469,869 (GRCm39) V1446A probably benign Het
Klhl30 A T 1: 91,285,086 (GRCm39) D314V probably benign Het
Lpcat1 T C 13: 73,659,074 (GRCm39) V330A possibly damaging Het
Myef2l T C 3: 10,154,239 (GRCm39) I336T probably damaging Het
Nhlrc3 A T 3: 53,359,944 (GRCm39) D306E possibly damaging Het
Notum T A 11: 120,548,766 (GRCm39) I187F probably damaging Het
Nphp3 T C 9: 103,892,640 (GRCm39) L288P probably damaging Het
Ntrk2 G T 13: 59,019,570 (GRCm39) E394* probably null Het
Or6k2 T A 1: 173,979,748 (GRCm39) V222D probably benign Het
Pbld2 A G 10: 62,874,931 (GRCm39) K63E probably benign Het
Phc2 T C 4: 128,641,982 (GRCm39) M768T possibly damaging Het
Pik3c2g G A 6: 139,603,561 (GRCm39) C249Y probably damaging Het
Plod1 G A 4: 148,000,772 (GRCm39) probably benign Het
Plscr2 A T 9: 92,172,772 (GRCm39) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm39) M215L probably benign Het
Prcp G T 7: 92,577,841 (GRCm39) C370F probably damaging Het
Pter A G 2: 12,983,205 (GRCm39) N70S probably damaging Het
Ptprt G T 2: 161,395,779 (GRCm39) H1131Q probably damaging Het
Rasal2 T C 1: 157,239,432 (GRCm39) D8G possibly damaging Het
Rcn2 A C 9: 55,960,209 (GRCm39) K159Q probably benign Het
Rex2 T A 4: 147,141,972 (GRCm39) C153* probably null Het
Rps6ka2 T C 17: 7,437,766 (GRCm39) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm39) L626S probably damaging Het
Sptb A G 12: 76,667,428 (GRCm39) probably null Het
Srgap3 A T 6: 112,793,571 (GRCm39) V135D probably damaging Het
Srsf7 T C 17: 80,514,682 (GRCm39) probably benign Het
Tacc2 A G 7: 130,228,255 (GRCm39) T1647A probably benign Het
Thap12 G T 7: 98,352,612 (GRCm39) A6S probably damaging Het
Tmem33 T A 5: 67,425,894 (GRCm39) L146* probably null Het
Trip13 C A 13: 74,084,378 (GRCm39) E36* probably null Het
Vkorc1l1 T A 5: 129,971,079 (GRCm39) C23S probably damaging Het
Vmn1r20 G A 6: 57,409,112 (GRCm39) R146H probably benign Het
Vmn1r222 T A 13: 23,416,965 (GRCm39) I83F probably benign Het
Vmn2r107 A T 17: 20,576,044 (GRCm39) I125F probably benign Het
Vmn2r116 A G 17: 23,605,736 (GRCm39) D216G probably damaging Het
Vwa3a C T 7: 120,394,874 (GRCm39) T898I probably benign Het
Wdfy3 T C 5: 102,116,812 (GRCm39) D76G probably damaging Het
Wdhd1 T C 14: 47,510,579 (GRCm39) D148G possibly damaging Het
Xylt1 T C 7: 117,255,960 (GRCm39) I844T probably damaging Het
Zfp106 A T 2: 120,353,185 (GRCm39) V1535D probably damaging Het
Zfp385b A T 2: 77,244,323 (GRCm39) L315Q possibly damaging Het
Zfp458 T A 13: 67,404,870 (GRCm39) H523L probably damaging Het
Zfp712 T C 13: 67,189,393 (GRCm39) H378R probably damaging Het
Zic1 T C 9: 91,246,556 (GRCm39) Y172C probably 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
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
R6273:Csf1 UTSW 3 107,656,479 (GRCm39) missense probably damaging 1.00
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'- ACTTGTAGAACAGGAGGCCC -3'
(R):5'- ACTCCTGAGAAGACTGATGGTAC -3'

Sequencing Primer
(F):5'- GTAGAACAGGAGGCCCCCAAC -3'
(R):5'- TGGTACATCCACGCTGCG -3'
Posted On 2018-04-02