Incidental Mutation 'IGL01603:Csf1r'
ID92197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf1r
Ensembl Gene ENSMUSG00000024621
Gene Namecolony stimulating factor 1 receptor
SynonymsFms, Fim-2, CD115, M-CSFR, CSF-1R, Csfmr
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.713) question?
Stock #IGL01603
Quality Score
Status
Chromosome18
Chromosomal Location61105572-61132149 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 61129301 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 823 (E823G)
Ref Sequence ENSEMBL: ENSMUSP00000110923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025523] [ENSMUST00000091884] [ENSMUST00000115268]
PDB Structure
Structure of M-CSF bound to the first three domains of FMS [X-RAY DIFFRACTION]
Structure of mouse Interleukin-34 in complex with mouse FMS [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025523
AA Change: E823G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025523
Gene: ENSMUSG00000024621
AA Change: E823G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 102 4.63e-8 SMART
IG 112 196 7.82e-6 SMART
IGc2 215 285 1.36e-5 SMART
IG 308 397 3.2e-2 SMART
IG_like 402 504 1.8e2 SMART
transmembrane domain 513 535 N/A INTRINSIC
TyrKc 580 908 1.45e-134 SMART
low complexity region 926 954 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091884
SMART Domains Protein: ENSMUSP00000089498
Gene: ENSMUSG00000024622

DomainStartEndE-ValueType
HMG 40 110 6.8e-15 SMART
low complexity region 182 194 N/A INTRINSIC
internal_repeat_1 307 336 1.98e-9 PROSPERO
internal_repeat_1 583 612 1.98e-9 PROSPERO
low complexity region 817 830 N/A INTRINSIC
low complexity region 966 977 N/A INTRINSIC
low complexity region 1239 1254 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115268
AA Change: E823G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110923
Gene: ENSMUSG00000024621
AA Change: E823G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 27 102 4.63e-8 SMART
IG 112 196 7.82e-6 SMART
IGc2 215 285 1.36e-5 SMART
IG 308 397 3.2e-2 SMART
IG_like 402 504 1.8e2 SMART
transmembrane domain 513 535 N/A INTRINSIC
TyrKc 580 908 1.45e-134 SMART
low complexity region 926 954 N/A INTRINSIC
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 the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,345,353 D20V probably damaging Het
Akr1c12 A G 13: 4,272,927 probably null Het
Baiap2l1 C T 5: 144,280,815 probably benign Het
Baz2a T C 10: 128,111,168 F184L probably damaging Het
BC049730 T A 7: 24,712,529 W45R probably damaging Het
Cadps T C 14: 12,454,154 probably benign Het
Cbr4 A T 8: 61,503,211 *237Y probably null Het
Cln3 T G 7: 126,575,354 N275T probably benign Het
Ctr9 C A 7: 111,049,331 A726D probably damaging Het
Def6 C T 17: 28,219,740 probably benign Het
Dock4 T A 12: 40,693,031 I395N probably damaging Het
Eln T C 5: 134,719,040 probably benign Het
Fasn A T 11: 120,816,065 H920Q probably damaging Het
Glb1l3 A G 9: 26,859,536 I78T probably damaging Het
Gm7275 A T 16: 48,073,579 noncoding transcript Het
Grm5 A C 7: 87,603,178 Y212S probably damaging Het
Gtf2ird2 T C 5: 134,202,288 probably benign Het
Gucy1b1 A G 3: 82,034,868 V528A probably damaging Het
Hspg2 G A 4: 137,552,803 A3168T probably damaging Het
Kcnj6 A G 16: 94,833,199 S18P probably benign Het
Kcnq5 T A 1: 21,505,340 K294I possibly damaging Het
Lama4 G A 10: 39,065,646 G693E possibly damaging Het
Ldb1 A T 19: 46,035,575 I124K probably damaging Het
Lrrfip1 C T 1: 91,115,913 T680I probably benign Het
Map3k19 T A 1: 127,830,273 D186V possibly damaging Het
Mrgprx2 T C 7: 48,482,626 Y148C probably damaging Het
Muc4 G A 16: 32,750,655 A178T probably benign Het
Mylip A C 13: 45,390,003 E16A probably benign Het
Nek9 A G 12: 85,305,605 F828S probably damaging Het
Obscn A G 11: 59,037,805 F6012L probably damaging Het
Olfr1394 A C 11: 49,160,611 D199A probably damaging Het
Olfr298 A G 7: 86,488,931 S207P possibly damaging Het
Olfr474 A G 7: 107,955,373 Y244C possibly damaging Het
Pcid2 T A 8: 13,079,936 K273N possibly damaging Het
Plekhm3 C T 1: 64,921,832 D422N probably damaging Het
Prr12 T C 7: 45,043,485 H1541R probably damaging Het
Psg26 A C 7: 18,475,103 V460G probably damaging Het
Rbmxl1 G A 8: 78,505,830 R295* probably null Het
Sbf1 A T 15: 89,303,278 V690E probably damaging Het
Serpinb2 T A 1: 107,522,180 S108T probably benign Het
Sin3b T C 8: 72,750,064 Y709H probably damaging Het
Slc17a5 A G 9: 78,574,707 W160R probably damaging Het
Spef2 T A 15: 9,704,380 D449V probably damaging Het
Tas2r108 C A 6: 40,493,786 N65K possibly damaging Het
Tex15 T A 8: 33,573,547 F1002I possibly damaging Het
Trpm5 G A 7: 143,075,601 S942L probably benign Het
Tspan5 T C 3: 138,890,756 S52P probably damaging Het
Uqcrfs1 T C 13: 30,541,198 T120A probably benign Het
Usp6nl T C 2: 6,423,435 F193L probably damaging Het
Vmn2r26 T A 6: 124,053,874 C523S probably damaging Het
Wfdc2 C T 2: 164,564,059 P92S probably benign Het
Zbtb18 A T 1: 177,447,983 H303L probably benign Het
Zfp174 A T 16: 3,854,289 H234L probably benign Het
Zmynd12 T C 4: 119,441,920 probably null Het
Other mutations in Csf1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Csf1r APN 18 61114825 missense probably benign 0.08
IGL02377:Csf1r APN 18 61124468 splice site probably benign
IGL03000:Csf1r APN 18 61109652 missense probably damaging 0.97
IGL03011:Csf1r APN 18 61110401 missense probably benign 0.00
IGL03132:Csf1r APN 18 61128099 missense probably benign 0.03
IGL03189:Csf1r APN 18 61105986 missense probably benign 0.05
IGL03224:Csf1r APN 18 61112062 missense probably damaging 0.96
IGL03351:Csf1r APN 18 61117108 nonsense probably null
ANU74:Csf1r UTSW 18 61117391 missense probably benign 0.09
R1245:Csf1r UTSW 18 61114812 missense probably benign
R1363:Csf1r UTSW 18 61124845 missense possibly damaging 0.95
R1651:Csf1r UTSW 18 61110401 missense possibly damaging 0.64
R1785:Csf1r UTSW 18 61129077 missense probably damaging 0.98
R1786:Csf1r UTSW 18 61129077 missense probably damaging 0.98
R1902:Csf1r UTSW 18 61130141 missense probably damaging 0.99
R1968:Csf1r UTSW 18 61112795 missense probably benign 0.00
R2177:Csf1r UTSW 18 61114943 splice site probably benign
R3743:Csf1r UTSW 18 61114774 missense probably benign 0.01
R3809:Csf1r UTSW 18 61112764 missense probably benign 0.22
R4374:Csf1r UTSW 18 61119006 missense probably damaging 0.99
R4683:Csf1r UTSW 18 61124911 missense probably damaging 1.00
R4973:Csf1r UTSW 18 61129047 missense probably damaging 1.00
R5080:Csf1r UTSW 18 61124301 missense probably damaging 1.00
R5314:Csf1r UTSW 18 61129724 missense probably damaging 1.00
R5936:Csf1r UTSW 18 61125808 missense probably damaging 1.00
R6015:Csf1r UTSW 18 61109712 missense possibly damaging 0.50
R6227:Csf1r UTSW 18 61125828 nonsense probably null
R6505:Csf1r UTSW 18 61129733 missense probably damaging 1.00
R6602:Csf1r UTSW 18 61110425 missense possibly damaging 0.81
R6811:Csf1r UTSW 18 61119053 missense probably damaging 1.00
R6813:Csf1r UTSW 18 61112734 missense probably benign
Posted On2013-12-09