Mutagenetix > Incidental Mutation

Incidental Mutation 'R0926:Fcgr1'

83187

Institutional Source

Beutler Lab

Gene Symbol

Fcgr1

Ensembl Gene

ENSMUSG00000015947

Gene Name

Fc receptor, IgG, high affinity I

Synonyms

CD64, FcgammaRI

MMRRC Submission

039073-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

R0926 (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 96292366 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 75 (I75N)

Ref Sequence

ENSEMBL: ENSMUSP00000029748 (fasta)

Gene Model

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

AlphaFold

P26151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029748
AA Change: I75N

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: I75N

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

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,257,549	D514G	probably damaging	Het
Acbd7	A	T	2: 3,340,441	I41F	possibly damaging	Het
Actr8	G	T	14: 29,987,224	V262L	probably benign	Het
Anp32e	A	G	3: 95,937,142	D108G	probably damaging	Het
Banp	G	A	8: 122,020,555	G448S	probably benign	Het
Camsap3	G	A	8: 3,587,960		probably null	Het
Cd22	C	A	7: 30,869,509		probably null	Het
Cfap58	A	T	19: 47,962,562	Q454L	probably damaging	Het
Cntn4	C	T	6: 106,655,581	T522I	probably benign	Het
Col11a1	G	A	3: 114,090,180	D233N	unknown	Het
Csmd1	G	T	8: 16,033,576		probably null	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
D5Ertd579e	G	T	5: 36,672,866	P38Q	probably damaging	Het
Dnal4	T	C	15: 79,762,025	T93A	probably benign	Het
Dsp	A	T	13: 38,183,218	D614V	probably damaging	Het
Fam160b1	G	A	19: 57,381,090	A383T	probably damaging	Het
Fgd6	T	A	10: 94,135,047	Y1229N	probably benign	Het
Frmpd1	T	G	4: 45,268,497	L214R	probably damaging	Het
Gapvd1	A	T	2: 34,712,325	D603E	probably damaging	Het
H2-M9	A	G	17: 36,641,773	V127A	probably damaging	Het
Herc2	T	A	7: 56,132,548	S1328T	possibly damaging	Het
Ica1l	T	C	1: 60,006,297	N269S	probably benign	Het
Il18r1	T	C	1: 40,487,028	Y245H	probably damaging	Het
Il6ra	A	T	3: 89,887,069	V195E	probably damaging	Het
Inpp5j	A	G	11: 3,501,439		probably benign	Het
Isy1	T	C	6: 87,819,143	T271A	probably benign	Het
Klra9	T	C	6: 130,179,030	Y254C	probably damaging	Het
Ly6e	T	G	15: 74,958,370	S73A	probably damaging	Het
Mcmdc2	T	A	1: 9,920,576	L326*	probably null	Het
Muc4	G	A	16: 32,756,196		probably benign	Het
Myh3	A	G	11: 67,090,514		probably null	Het
Ndor1	G	A	2: 25,248,348	H409Y	probably benign	Het
Nwd2	A	G	5: 63,807,891	D1606G	probably damaging	Het
Olfr1156	A	T	2: 87,949,922	F104I	probably damaging	Het
Olfr1303	A	G	2: 111,814,547	Y60H	probably damaging	Het
Olfr1451	A	T	19: 12,999,190	D68V	probably damaging	Het
Olfr186	A	G	16: 59,027,688	I73T	possibly damaging	Het
Olfr314	A	G	11: 58,787,109	N292D	probably damaging	Het
Olfr411	G	A	11: 74,347,306	R93C	probably benign	Het
Olfr585	T	C	7: 103,097,885	L48P	probably damaging	Het
Paox	C	A	7: 140,134,038	T237K	probably damaging	Het
Pcmtd1	T	A	1: 7,161,019	L4I	probably damaging	Het
Pfkl	T	A	10: 78,000,689	T165S	probably damaging	Het
Pik3ap1	A	G	19: 41,302,525	S523P	probably benign	Het
Pitpnm1	A	G	19: 4,112,338	D1056G	probably damaging	Het
Pitpnm2	G	A	5: 124,131,209	T450I	probably benign	Het
Pou2f3	T	C	9: 43,146,901	D37G	probably damaging	Het
Prdm5	A	G	6: 65,883,547	H221R	probably damaging	Het
Pwp1	T	A	10: 85,876,514	I72N	probably damaging	Het
Rhou	A	G	8: 123,660,976	E149G	probably damaging	Het
She	A	G	3: 89,851,594		probably benign	Het
Slc26a9	A	C	1: 131,753,216	H121P	probably benign	Het
Spag17	A	G	3: 100,072,116	D1431G	probably benign	Het
Trpm3	A	T	19: 22,988,043	D1634V	probably benign	Het
Ttn	A	G	2: 76,797,227		probably benign	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	Het
Zcrb1	T	C	15: 93,391,528	K51E	probably damaging	Het
Zfp110	C	T	7: 12,849,881	Q819*	probably null	Het
Zfp616	A	G	11: 74,085,818	N971S	probably benign	Het
Zfp827	A	T	8: 79,118,192	T664S	probably benign	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
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
R9269:Fcgr1	UTSW	3	96285838	missense	probably benign	0.01
R9396:Fcgr1	UTSW	3	96287074	nonsense	probably null
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'- TGACACTGTCACCCAAACTGGTCC -3'
(R):5'- GCTTCTGTCACTGGCAACCAAACC -3'

Sequencing Primer
(F):5'- AGCTGTCTGACCTGATTTGAC -3'
(R):5'- GTCgtttgtttgtttgtttgtttg -3'

Posted On

2013-11-08