Mutagenetix > Incidental Mutations

Incidental Mutation 'R7339:Fcgr1'

569685

Institutional Source

Beutler Lab

Gene Symbol

Fcgr1

Ensembl Gene

ENSMUSG00000015947

Gene Name

Fc receptor, IgG, high affinity I

Synonyms

CD64, FcgammaRI

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R7339 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96282909-96293969 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96284299 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 398 (G398R)

Ref Sequence

ENSEMBL: ENSMUSP00000029748 (fasta)

Gene Model

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

Predicted Effect

not run
Transcript: ENSMUST00000029748
AA Change: G398R

SMART Domains

Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: G398R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,272,384		probably null	Het
2900026A02Rik	T	C	5: 113,183,072	D1092G	probably benign	Het
9030624J02Rik	A	T	7: 118,809,971	I612F	probably damaging	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Ahnak	A	T	19: 9,008,165	N2271I	possibly damaging	Het
Amz1	A	G	5: 140,741,551	S90G	probably benign	Het
Arhgap5	A	G	12: 52,517,698	E484G	possibly damaging	Het
Arid3c	A	G	4: 41,729,883		probably null	Het
Atp1a1	T	C	3: 101,589,872	I373V	probably benign	Het
Barhl1	T	C	2: 28,909,887	E242G	probably damaging	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,321,318		probably benign	Het
Casz1	T	A	4: 148,951,745	V1488E	probably damaging	Het
Ccdc175	C	A	12: 72,136,041	Q401H	probably damaging	Het
Cfap36	T	C	11: 29,225,925	Y191C	probably benign	Het
Chmp2b	G	A	16: 65,545,346	Q119*	probably null	Het
Cps1	T	A	1: 67,197,015	I969N	possibly damaging	Het
Dennd5a	A	G	7: 109,901,159	F920L	probably damaging	Het
Dnah12	A	T	14: 26,872,320	T3410S	probably benign	Het
Fbxo42	T	G	4: 141,200,144	S578R	possibly damaging	Het
Foxa3	A	T	7: 19,014,869	Y111N	probably damaging	Het
Gabbr2	T	C	4: 46,846,340	K190E	probably benign	Het
Gbp10	T	C	5: 105,220,098	Y403C	possibly damaging	Het
Gm906	A	T	13: 50,247,168	I374N	possibly damaging	Het
Hsd3b5	A	G	3: 98,622,074	I80T	probably damaging	Het
Kri1	T	G	9: 21,286,587	Q89P		Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Metap1	T	C	3: 138,466,137		probably null	Het
Mkrn3	C	T	7: 62,419,782	R87H	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh6	T	C	14: 54,961,568		probably null	Het
Naip6	G	T	13: 100,316,019	P178Q	probably damaging	Het
Ncapg2	A	G	12: 116,414,834	E160G	probably damaging	Het
Nek6	G	A	2: 38,560,965	A127T	probably damaging	Het
Nell1	T	C	7: 50,279,549	V264A	probably benign	Het
Nlrp2	T	A	7: 5,327,628	I590F	possibly damaging	Het
Olfr1308	A	T	2: 111,960,611	M154K	probably benign	Het
Olfr1310	A	G	2: 112,008,475	L237P	probably damaging	Het
Olfr1390	G	A	11: 49,341,048	R172Q	not run	Het
Olfr503	A	C	7: 108,544,900	D125A	probably damaging	Het
Olfr71	C	T	4: 43,706,080	A163T	probably benign	Het
Otop3	T	A	11: 115,346,378	L556Q	probably damaging	Het
Padi1	T	C	4: 140,829,234	D190G	probably null	Het
Pald1	T	C	10: 61,323,331	S774G	possibly damaging	Het
Pde10a	C	T	17: 8,757,028	T55I	probably benign	Het
Pla2g4d	T	C	2: 120,278,978	M197V	probably benign	Het
Prom1	C	A	5: 44,101,653		probably benign	Het
Ptdss1	A	G	13: 66,963,362	H164R	possibly damaging	Het
Rrh	A	T	3: 129,810,613	I313N	probably damaging	Het
Slc35b4	A	G	6: 34,167,656	I88T	probably damaging	Het
Slc38a11	C	T	2: 65,326,570	V353I	probably benign	Het
Spdef	T	A	17: 27,720,245	E42D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmx1	A	G	12: 70,458,850	D129G	probably benign	Het
Trav13n-4	A	T	14: 53,363,978	Y68F	probably benign	Het
Trp53	T	C	11: 69,589,189	S238P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,469	D592G	probably benign	Het
Ttll5	T	C	12: 85,857,464		probably null	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn2r43	A	T	7: 8,255,307	Y302*	probably null	Het
Vps13d	C	T	4: 145,121,368	V2478I		Het
Wsb1	A	G	11: 79,240,358	V404A	probably damaging	Het
Zfc3h1	A	G	10: 115,403,300	D539G	probably damaging	Het
Zfp318	T	C	17: 46,411,247	V1392A	probably damaging	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
R7939:Fcgr1	UTSW	3	96284627	splice site	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

Posted On

2019-09-13