Mutagenetix > Incidental Mutations

Incidental Mutation 'V7583:Fcgr1'

152638

Institutional Source

Beutler Lab

Gene Symbol

Fcgr1

Ensembl Gene

ENSMUSG00000015947

Gene Name

Fc receptor, IgG, high affinity I

Synonyms

CD64, FcgammaRI

Accession Numbers

Is this an essential gene?

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

Stock #

V7583 () of strain stinger

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96282909-96293969 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 96284276 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 405 (*405W)

Ref Sequence

ENSEMBL: ENSMUSP00000029748 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000029748
AA Change: *405W

SMART Domains

Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: *405W

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,701,257	H102L	possibly damaging	Het
Atp6v1h	A	G	1: 5,124,443	T282A	possibly damaging	Het
Cdc42bpb	C	T	12: 111,296,391	G1501S	probably benign	Het
D630003M21Rik	T	C	2: 158,201,011	T870A	probably benign	Het
Dcaf4	C	A	12: 83,537,701		probably null	Het
Dnajc22	T	A	15: 99,101,482	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,897,126	Q295*	probably null	Het
Erv3	T	C	2: 131,855,926	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865	T249A	probably benign	Het
Gm10770	T	A	2: 150,179,484	K38*	probably null	Het
Golga4	A	G	9: 118,556,075	E727G	possibly damaging	Het
Hnrnpab	A	T	11: 51,602,624	N252K	probably benign	Het
Ing1	T	C	8: 11,561,934	V124A	probably damaging	Het
Izumo4	A	T	10: 80,703,891	T155S	probably benign	Het
Kcnb2	A	G	1: 15,710,091	I396V	probably benign	Het
Lrp4	C	T	2: 91,488,518	S900L	possibly damaging	Het
Mbd5	A	G	2: 49,316,410	D1713G	probably damaging	Het
Muc6	T	G	7: 141,647,613	E808A	probably benign	Het
Mylk	G	T	16: 34,995,204		probably null	Het
Nbeal2	A	G	9: 110,637,937	V670A	possibly damaging	Het
Nphp3	T	C	9: 104,035,894		probably null	Het
Numbl	T	C	7: 27,279,602	S379P	probably benign	Het
Otop3	T	A	11: 115,344,838	L432Q	probably damaging	Het
Pelp1	T	A	11: 70,398,150	T257S	probably damaging	Het
Pigx	T	C	16: 32,087,422	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,657,319	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,654,618	T112A	probably benign	Het
Recql4	T	C	15: 76,706,169	D705G	possibly damaging	Het
Ror1	A	G	4: 100,440,933	Q501R	probably damaging	Het
Sirpb1b	A	G	3: 15,503,183	V366A	probably benign	Het
Slc30a4	T	A	2: 122,689,538	M136L	probably benign	Het
Spaca1	T	C	4: 34,039,311	E192G	probably damaging	Het
Spata31	C	A	13: 64,921,648	P537T	probably benign	Het
Tnrc6c	G	A	11: 117,723,326	R770H	probably damaging	Het
Toe1	A	T	4: 116,806,111	N56K	probably damaging	Het
Tprkb	A	G	6: 85,928,782	K150E	probably damaging	Het
Trps1	T	C	15: 50,831,577	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,225,060	V86A	probably benign	Het
Vps18	A	G	2: 119,297,228	Y844C	probably benign	Het
Wdr60	A	C	12: 116,211,840	S906A	possibly damaging	Het
Wdr72	T	A	9: 74,157,270	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783	C2087Y	possibly damaging	Het
Zfp933	G	A	4: 147,826,470	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,812,394	R724*	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
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
X0028:Fcgr1	UTSW	3	96286027	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TTCCGATGCTCTCAGGATGACCAC -3'
(R):5'- CTTTCAGCAAGTTAGAAGCGATGGC -3'

Sequencing Primer
(F):5'- TCTCAGACTGGAGTCTTCCAGAG -3'
(R):5'- CGTGTATGAAGAAGTAACAGCCAC -3'

Posted On

2014-01-29