Incidental Mutation 'R5156:Csf1'
ID 396718
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 042738-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # R5156 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107648364-107667785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107656252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 148 (T148S)
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: T260S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014743
Gene: ENSMUSG00000014599
AA Change: T260S

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: T260S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113617
Gene: ENSMUSG00000014599
AA Change: T260S

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
AA Change: T148S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000119553
Gene: ENSMUSG00000014599
AA Change: T148S

DomainStartEndE-ValueType
Pfam:CSF-1 15 142 6e-37 PFAM
Pfam:CSF-1 160 279 4.9e-52 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (52/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G T 17: 79,935,638 (GRCm39) probably benign Het
Apeh C T 9: 107,971,486 (GRCm39) A29T probably damaging Het
Arap2 A T 5: 62,826,524 (GRCm39) Y1013* probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Asf1b T C 8: 84,682,540 (GRCm39) F28S probably damaging Het
Cd46 T A 1: 194,767,693 (GRCm39) I123L possibly damaging Het
Cdca7 A T 2: 72,309,370 (GRCm39) T48S probably damaging Het
Cfap53 T A 18: 74,492,838 (GRCm39) probably benign Het
Clca3a2 T A 3: 144,511,599 (GRCm39) T599S probably benign Het
Dmbt1 T C 7: 130,699,400 (GRCm39) probably null Het
Dmpk A G 7: 18,818,050 (GRCm39) D44G probably damaging Het
Dnajb12 T A 10: 59,728,782 (GRCm39) N223K probably damaging Het
Dync1h1 T A 12: 110,595,264 (GRCm39) M1392K probably benign Het
Edrf1 C T 7: 133,261,908 (GRCm39) A867V probably damaging Het
Efemp2 T A 19: 5,527,706 (GRCm39) C94S possibly damaging Het
Epha8 C T 4: 136,666,037 (GRCm39) S373N probably benign Het
Foxk1 A G 5: 142,434,588 (GRCm39) D284G possibly damaging Het
Fzd10 C A 5: 128,678,366 (GRCm39) R29S possibly damaging Het
Gm13991 T C 2: 116,358,665 (GRCm39) noncoding transcript Het
Gm6818 A T 7: 38,101,471 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,336,333 (GRCm39) C5037S probably benign Het
Ikzf1 T A 11: 11,719,448 (GRCm39) M492K probably damaging Het
Krt20 G T 11: 99,320,879 (GRCm39) S394R possibly damaging Het
Lrrc71 T A 3: 87,653,094 (GRCm39) R107S probably benign Het
Mia2 A G 12: 59,219,323 (GRCm39) T436A possibly damaging Het
Muc19 T A 15: 91,784,614 (GRCm39) noncoding transcript Het
Neu4 T C 1: 93,952,177 (GRCm39) V182A probably damaging Het
Notch2 T G 3: 98,031,626 (GRCm39) F1167V possibly damaging Het
Nrap A G 19: 56,360,277 (GRCm39) M189T possibly damaging Het
Nt5m A T 11: 59,765,487 (GRCm39) I172F probably damaging Het
Or5b118 G T 19: 13,449,037 (GRCm39) K234N probably damaging Het
Or5w15 G A 2: 87,568,119 (GRCm39) P183L possibly damaging Het
Or8k41 A T 2: 86,313,362 (GRCm39) C241* probably null Het
Plekha5 C T 6: 140,372,254 (GRCm39) T68M probably damaging Het
Ppef2 A G 5: 92,392,461 (GRCm39) probably null Het
Ppp1r37 T C 7: 19,295,900 (GRCm39) probably benign Het
Rfx4 T C 10: 84,704,218 (GRCm39) Y238H probably damaging Het
Sanbr A G 11: 23,543,424 (GRCm39) probably null Het
Sec13 G A 6: 113,707,837 (GRCm39) A161V probably benign Het
Serhl G A 15: 82,986,895 (GRCm39) probably benign Het
Slco4a1 T C 2: 180,114,572 (GRCm39) V588A probably benign Het
Slitrk3 T C 3: 72,956,592 (GRCm39) T727A probably benign Het
Sp100 T A 1: 85,601,404 (GRCm39) D241E probably damaging Het
Spata2 G T 2: 167,325,494 (GRCm39) H442N probably damaging Het
Speg T C 1: 75,404,731 (GRCm39) V2588A probably damaging Het
Tnfsf12 A G 11: 69,578,155 (GRCm39) S141P probably damaging Het
Trank1 A G 9: 111,219,762 (GRCm39) I2166M probably damaging Het
Trim10 T A 17: 37,187,948 (GRCm39) V388E probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r10 A G 5: 109,143,466 (GRCm39) V828A probably benign Het
Vmn2r75 T A 7: 85,813,436 (GRCm39) L455F possibly damaging Het
Vwa8 T A 14: 79,221,666 (GRCm39) S541T 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
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
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'- GGGGAAAACTTTGCTTCCTGG -3'
(R):5'- TGCCTGTACCCTAAAGCCAC -3'

Sequencing Primer
(F):5'- GCTTCCTGGGTCAAAAATCCC -3'
(R):5'- AGCCACCCCTAGCAGTG -3'
Posted On 2016-06-21