Mutagenetix > Incidental Mutations

Incidental Mutation 'R5047:Fcgr1'

394405

Institutional Source

Beutler Lab

Gene Symbol

Fcgr1

Ensembl Gene

ENSMUSG00000015947

Gene Name

Fc receptor, IgG, high affinity I

Synonyms

CD64, FcgammaRI

MMRRC Submission

042637-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R5047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96282909-96293969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96285884 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 266 (F266I)

Ref Sequence

ENSEMBL: ENSMUSP00000029748 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029748]

Predicted Effect

probably benign
Transcript: ENSMUST00000029748
AA Change: F266I

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: F266I

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

96% (49/51)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	G	T	14: 49,770,438	A526D	probably damaging	Het
4930503E14Rik	A	T	14: 44,169,241	M117K	possibly damaging	Het
Adamts13	G	A	2: 26,996,910	A1020T	probably damaging	Het
Atg3	C	A	16: 45,178,232	D132E	probably benign	Het
Blzf1	A	G	1: 164,306,468	M4T	possibly damaging	Het
Cdon	G	A	9: 35,478,639	R863Q	probably damaging	Het
Cyp2d40	C	T	15: 82,760,259	R255H	unknown	Het
Evi5	T	C	5: 107,821,874	K57R	probably damaging	Het
Fam186b	T	C	15: 99,280,686	E253G	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gm10142	G	T	10: 77,716,162	C119F	probably damaging	Het
Gpr63	A	G	4: 25,008,202	S309G	probably benign	Het
Herc3	C	T	6: 58,855,760	Q137*	probably null	Het
Jmy	T	A	13: 93,441,572	H696L	possibly damaging	Het
Kif13a	T	C	13: 46,788,085	H972R	probably benign	Het
Lama1	C	T	17: 67,743,281	Q296*	probably null	Het
Lmf1	C	T	17: 25,631,838		probably benign	Het
Lpp	T	C	16: 24,971,846	C352R	probably damaging	Het
Ltbp1	T	C	17: 75,292,886		probably benign	Het
Maml3	G	T	3: 51,690,841	D807E	possibly damaging	Het
Mdc1	T	A	17: 35,847,844	V372D	probably benign	Het
Mst1	C	A	9: 108,084,309	H579Q	probably benign	Het
Olfr1238	A	G	2: 89,406,713	V122A	probably damaging	Het
Olfr26	G	A	9: 38,855,289	V76I	probably benign	Het
Olfr398	T	C	11: 73,984,378	T77A	probably damaging	Het
Olfr739	T	C	14: 50,425,239	F240S	probably damaging	Het
Pcdhb22	G	T	18: 37,519,126	G216C	probably damaging	Het
Phlpp2	A	T	8: 109,913,619	H472L	probably benign	Het
Plscr3	A	G	11: 69,850,091		probably null	Het
Rab7	A	T	6: 88,005,223		probably null	Het
Rad50	A	G	11: 53,674,696		probably null	Het
Scgb1b20	A	G	7: 33,373,312		probably null	Het
Scn9a	A	C	2: 66,562,480	L256R	probably damaging	Het
Spag1	G	T	15: 36,195,442	Q260H	probably damaging	Het
Tatdn3	T	A	1: 191,046,278	I239F	probably damaging	Het
Tcof1	A	G	18: 60,831,914	S578P	possibly damaging	Het
Top3b	A	G	16: 16,891,418	T657A	probably benign	Het
Tstd3	A	G	4: 21,759,621		probably null	Het
Ttc4	A	T	4: 106,668,238	L233H	probably damaging	Het
Vmn2r-ps130	T	A	17: 23,063,820	M158K	probably benign	Het
Yeats2	A	T	16: 20,208,465	Q822L	probably damaging	Het
Zfp976	A	T	7: 42,613,419	C331*	probably null	Het

Other mutations in Fcgr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Fcgr1	APN	3	96284370	missense	probably benign	0.01
IGL02142:Fcgr1	APN	3	96284577	missense	probably benign	0.41
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGACTGCAGTTCTGAAGG -3'
(R):5'- GAATACCCTGTCCCTTGTCAAC -3'

Sequencing Primer
(F):5'- AAGGAGGCGTAGAGTGTTCCTC -3'
(R):5'- TAGAGCTGTTTACCACGCCAG -3'

Posted On

2016-06-15