Incidental Mutation 'IGL01490:Fcgr1'
ID 88811
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgr1
Ensembl Gene ENSMUSG00000015947
Gene Name Fc receptor, IgG, high affinity I
Synonyms CD64, FcgammaRI
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # IGL01490
Quality Score
Status
Chromosome 3
Chromosomal Location 96190225-96201285 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96191686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 374 (D374G)
Ref Sequence ENSEMBL: ENSMUSP00000029748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029748]
AlphaFold P26151
Predicted Effect probably benign
Transcript: ENSMUST00000029748
AA Change: D374G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: D374G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 38 111 1.8e-5 SMART
IGc2 125 184 6.11e-8 SMART
IG 206 290 7.3e-6 SMART
transmembrane domain 298 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200420
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results immune response defects including a decreased inflammatory response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Fcgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Fcgr1 APN 3 96,191,893 (GRCm39) missense probably benign 0.41
IGL03086:Fcgr1 APN 3 96,191,814 (GRCm39) nonsense probably null
F5770:Fcgr1 UTSW 3 96,191,592 (GRCm39) makesense probably null
FR4737:Fcgr1 UTSW 3 96,194,410 (GRCm39) missense probably benign 0.01
FR4737:Fcgr1 UTSW 3 96,191,820 (GRCm39) frame shift probably null
R0323:Fcgr1 UTSW 3 96,193,145 (GRCm39) missense possibly damaging 0.84
R0594:Fcgr1 UTSW 3 96,199,628 (GRCm39) missense probably damaging 1.00
R0926:Fcgr1 UTSW 3 96,199,682 (GRCm39) missense possibly damaging 0.79
R1951:Fcgr1 UTSW 3 96,194,386 (GRCm39) missense probably damaging 1.00
R1953:Fcgr1 UTSW 3 96,194,386 (GRCm39) missense probably damaging 1.00
R1993:Fcgr1 UTSW 3 96,193,184 (GRCm39) missense probably damaging 0.98
R2255:Fcgr1 UTSW 3 96,193,233 (GRCm39) missense possibly damaging 0.88
R3941:Fcgr1 UTSW 3 96,193,349 (GRCm39) missense probably benign 0.13
R4004:Fcgr1 UTSW 3 96,191,668 (GRCm39) missense probably benign 0.00
R4409:Fcgr1 UTSW 3 96,191,893 (GRCm39) missense probably benign 0.41
R5046:Fcgr1 UTSW 3 96,194,302 (GRCm39) missense probably damaging 0.99
R5047:Fcgr1 UTSW 3 96,193,200 (GRCm39) missense probably benign 0.38
R6970:Fcgr1 UTSW 3 96,191,936 (GRCm39) critical splice acceptor site probably null
R7339:Fcgr1 UTSW 3 96,191,615 (GRCm39) missense not run
R7992:Fcgr1 UTSW 3 96,191,897 (GRCm39) missense probably benign 0.23
R8554:Fcgr1 UTSW 3 96,199,788 (GRCm39) missense probably damaging 1.00
R9269:Fcgr1 UTSW 3 96,193,154 (GRCm39) missense probably benign 0.01
R9396:Fcgr1 UTSW 3 96,194,390 (GRCm39) nonsense probably null
V7581:Fcgr1 UTSW 3 96,191,592 (GRCm39) makesense probably null
V7582:Fcgr1 UTSW 3 96,191,592 (GRCm39) makesense probably null
V7583:Fcgr1 UTSW 3 96,191,592 (GRCm39) makesense probably null
X0028:Fcgr1 UTSW 3 96,193,343 (GRCm39) missense probably benign 0.29
Posted On 2013-11-18