Incidental Mutation 'IGL02558:Csf3r'
ID298407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csf3r
Ensembl Gene ENSMUSG00000028859
Gene Namecolony stimulating factor 3 receptor (granulocyte)
SynonymsG-CSFR, Cd114, Csfgr
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.330) question?
Stock #IGL02558
Quality Score
Status
Chromosome4
Chromosomal Location126024550-126044440 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 126038135 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030673] [ENSMUST00000106162]
Predicted Effect probably benign
Transcript: ENSMUST00000030673
SMART Domains Protein: ENSMUSP00000030673
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 24 111 2.3e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106162
SMART Domains Protein: ENSMUSP00000101768
Gene: ENSMUSG00000028859

DomainStartEndE-ValueType
Pfam:Lep_receptor_Ig 22 112 6.8e-30 PFAM
FN3 124 213 5.38e1 SMART
SCOP:d1cd9b2 226 332 3e-15 SMART
Blast:FN3 334 420 3e-30 BLAST
FN3 432 518 2.41e0 SMART
FN3 530 612 1.92e-3 SMART
transmembrane domain 627 649 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140426
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 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced numbers of peripheral neutrophils, with fewer hematopoietic progenitors in bone marrow and impaired expansion and terminal differentiation of progenitors into granulocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,582,194 *25C probably null Het
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Ccr8 A T 9: 120,094,658 I280F probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cfap52 T C 11: 67,954,138 D35G probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csk C T 9: 57,630,263 E123K probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gata2 C T 6: 88,199,780 P74S probably benign Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Csf3r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02059:Csf3r APN 4 126032127 nonsense probably null
IGL02224:Csf3r APN 4 126043539 missense probably benign 0.36
R0026:Csf3r UTSW 4 126031884 missense probably benign 0.33
R0033:Csf3r UTSW 4 126031884 missense probably benign 0.33
R0033:Csf3r UTSW 4 126031884 missense probably benign 0.33
R0121:Csf3r UTSW 4 126029849 missense probably benign 0.01
R0413:Csf3r UTSW 4 126039667 splice site probably benign
R0456:Csf3r UTSW 4 126035861 missense probably damaging 0.98
R0479:Csf3r UTSW 4 126043823 missense probably damaging 0.98
R1052:Csf3r UTSW 4 126042988 splice site probably null
R1466:Csf3r UTSW 4 126031932 splice site probably benign
R1512:Csf3r UTSW 4 126029984 missense possibly damaging 0.75
R1902:Csf3r UTSW 4 126042918 missense probably damaging 1.00
R1905:Csf3r UTSW 4 126042745 missense probably benign 0.12
R2520:Csf3r UTSW 4 126035352 missense probably benign 0.06
R3424:Csf3r UTSW 4 126043756 missense probably damaging 1.00
R3705:Csf3r UTSW 4 126032285 missense possibly damaging 0.76
R3907:Csf3r UTSW 4 126034447 missense probably benign 0.00
R4514:Csf3r UTSW 4 126039860 missense possibly damaging 0.61
R4817:Csf3r UTSW 4 126037656 nonsense probably null
R5111:Csf3r UTSW 4 126030068 splice site probably null
R5120:Csf3r UTSW 4 126035827 missense probably benign 0.00
R5308:Csf3r UTSW 4 126035344 missense probably benign 0.00
R5912:Csf3r UTSW 4 126029960 missense probably damaging 1.00
R6018:Csf3r UTSW 4 126043621 missense probably benign 0.01
R6024:Csf3r UTSW 4 126037517 splice site probably null
R7144:Csf3r UTSW 4 126043722 missense probably benign 0.03
R7615:Csf3r UTSW 4 126037656 nonsense probably null
R7717:Csf3r UTSW 4 126037610 missense probably damaging 1.00
Posted On2015-04-16