Incidental Mutation 'IGL02142:Fcgr1'
ID281597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcgr1
Ensembl Gene ENSMUSG00000015947
Gene NameFc receptor, IgG, high affinity I
SynonymsCD64, FcgammaRI
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL02142
Quality Score
Status
Chromosome3
Chromosomal Location96282909-96293969 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96284577 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 305 (Y305C)
Ref Sequence ENSEMBL: ENSMUSP00000029748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029748]
Predicted Effect probably benign
Transcript: ENSMUST00000029748
AA Change: Y305C

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: Y305C

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik G A 19: 11,110,331 Q79* probably null Het
Abca4 T C 3: 122,169,926 S2060P probably benign Het
Abcg4 A G 9: 44,277,717 F426S probably benign Het
Actn1 C T 12: 80,176,155 probably null Het
Adgrd1 T A 5: 129,131,584 H251Q probably benign Het
Adgrg3 C T 8: 95,039,855 P385S probably damaging Het
Ampd2 G T 3: 108,080,344 probably benign Het
Arhgap42 A G 9: 9,155,359 S86P probably damaging Het
Armc4 C A 18: 7,214,601 W733C probably damaging Het
Art5 C T 7: 102,097,916 E121K probably null Het
Atad5 G A 11: 80,094,197 E37K probably benign Het
Atp13a5 A G 16: 29,234,563 V1084A probably benign Het
Cfap44 T C 16: 44,421,144 I626T probably benign Het
Col16a1 T A 4: 130,051,647 probably null Het
Defa22 T G 8: 21,163,114 C81G possibly damaging Het
Dnm2 A G 9: 21,500,353 Y622C probably damaging Het
Efna5 T A 17: 62,607,345 L201F unknown Het
Elac1 T C 18: 73,738,920 R335G probably benign Het
Enpp5 T C 17: 44,085,577 V460A probably benign Het
Esr2 A G 12: 76,123,195 V453A probably benign Het
Fam210b T A 2: 172,352,577 probably benign Het
Fcrlb A G 1: 170,908,679 V176A probably damaging Het
Gabrq T A X: 72,836,177 V256E possibly damaging Het
Gba T C 3: 89,205,841 L193P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Helq A G 5: 100,783,094 F597L probably benign Het
Hrh1 A T 6: 114,480,243 I162L probably damaging Het
Jph1 A T 1: 17,091,660 F259L probably damaging Het
Kdm2b C T 5: 122,947,835 E238K probably damaging Het
Kdm4c T A 4: 74,307,016 probably null Het
Kif13a T C 13: 46,771,535 T308A probably benign Het
Lars C T 18: 42,227,280 V704M probably benign Het
Lcmt2 A G 2: 121,138,913 L343P possibly damaging Het
Lhfpl1 A G X: 145,340,737 F125L probably benign Het
Lmbrd2 C A 15: 9,186,685 D582E probably damaging Het
Lrrn2 T A 1: 132,939,245 S683T possibly damaging Het
Macf1 T C 4: 123,472,049 D1408G probably benign Het
Magi3 T C 3: 104,015,903 K1166R probably benign Het
March5 T C 19: 37,220,493 probably benign Het
Naa25 A G 5: 121,426,762 Q555R possibly damaging Het
Npat A G 9: 53,569,907 T1005A probably benign Het
Nt5c3 G A 6: 56,886,685 A108V probably damaging Het
Ocrl T A X: 47,936,118 M322K probably damaging Het
Olfr229 A G 9: 39,910,639 T279A possibly damaging Het
Psg23 A T 7: 18,610,420 V370E probably benign Het
Rassf2 A T 2: 131,996,433 M311K possibly damaging Het
Rhobtb3 A G 13: 75,877,495 Y501H probably damaging Het
Rpl4 A G 9: 64,176,206 D179G possibly damaging Het
Scn2a T A 2: 65,715,838 I915N probably damaging Het
Scn3a T A 2: 65,526,621 T160S possibly damaging Het
Slx4ip T G 2: 137,068,022 N242K possibly damaging Het
Spidr T A 16: 16,048,081 Q288L probably benign Het
Sun1 A T 5: 139,231,163 H255L possibly damaging Het
Tacc1 C T 8: 25,175,217 G51S probably damaging Het
Tet2 T A 3: 133,480,139 N1179I possibly damaging Het
Tgfbrap1 T C 1: 43,062,592 Y349C probably damaging Het
Tnrc6a T C 7: 123,152,191 probably benign Het
Trim32 T C 4: 65,614,499 L431P probably damaging Het
Vmn1r35 A G 6: 66,679,350 L112S probably damaging Het
Vmn2r100 A C 17: 19,522,321 H319P probably damaging Het
Wdr20rt A G 12: 65,227,265 T328A probably benign Het
Zbtb17 T C 4: 141,464,982 Y413H probably benign Het
Other mutations in Fcgr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Fcgr1 APN 3 96284370 missense probably benign 0.01
IGL03086:Fcgr1 APN 3 96284498 nonsense probably null
F5770:Fcgr1 UTSW 3 96284276 makesense probably null
FR4737:Fcgr1 UTSW 3 96284504 frame shift probably null
FR4737:Fcgr1 UTSW 3 96287094 missense probably benign 0.01
R0323:Fcgr1 UTSW 3 96285829 missense possibly damaging 0.84
R0594:Fcgr1 UTSW 3 96292312 missense probably damaging 1.00
R0926:Fcgr1 UTSW 3 96292366 missense possibly damaging 0.79
R1951:Fcgr1 UTSW 3 96287070 missense probably damaging 1.00
R1953:Fcgr1 UTSW 3 96287070 missense probably damaging 1.00
R1993:Fcgr1 UTSW 3 96285868 missense probably damaging 0.98
R2255:Fcgr1 UTSW 3 96285917 missense possibly damaging 0.88
R3941:Fcgr1 UTSW 3 96286033 missense probably benign 0.13
R4004:Fcgr1 UTSW 3 96284352 missense probably benign 0.00
R4409:Fcgr1 UTSW 3 96284577 missense probably benign 0.41
R5046:Fcgr1 UTSW 3 96286986 missense probably damaging 0.99
R5047:Fcgr1 UTSW 3 96285884 missense probably benign 0.38
R6970:Fcgr1 UTSW 3 96284620 critical splice acceptor site probably null
R7339:Fcgr1 UTSW 3 96284299 missense not run
R7992:Fcgr1 UTSW 3 96284581 missense probably benign 0.23
R8554:Fcgr1 UTSW 3 96292472 missense probably damaging 1.00
V7581:Fcgr1 UTSW 3 96284276 makesense probably null
V7582:Fcgr1 UTSW 3 96284276 makesense probably null
V7583:Fcgr1 UTSW 3 96284276 makesense probably null
X0028:Fcgr1 UTSW 3 96286027 missense probably benign 0.29
Posted On2015-04-16