Incidental Mutation 'V7583:Fcgr1'
ID |
152638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcgr1
|
Ensembl Gene |
ENSMUSG00000015947 |
Gene Name |
Fc receptor, IgG, high affinity I |
Synonyms |
CD64, FcgammaRI |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
V7583 ()
of strain
stinger
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
96190225-96201285 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 96191592 bp (GRCm39)
|
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]
|
AlphaFold |
P26151 |
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: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
Dcaf4 |
C |
A |
12: 83,584,475 (GRCm39) |
|
probably null |
Het |
Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
Golga4 |
A |
G |
9: 118,385,143 (GRCm39) |
E727G |
possibly damaging |
Het |
Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
Ing1 |
T |
C |
8: 11,611,934 (GRCm39) |
V124A |
probably damaging |
Het |
Izumo4 |
A |
T |
10: 80,539,725 (GRCm39) |
T155S |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Mbd5 |
A |
G |
2: 49,206,422 (GRCm39) |
D1713G |
probably damaging |
Het |
Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
Nbeal2 |
A |
G |
9: 110,467,005 (GRCm39) |
V670A |
possibly damaging |
Het |
Nphp3 |
T |
C |
9: 103,913,093 (GRCm39) |
|
probably null |
Het |
Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
Sirpb1b |
A |
G |
3: 15,568,243 (GRCm39) |
V366A |
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,709 (GRCm39) |
Y844C |
probably benign |
Het |
Wdr72 |
T |
A |
9: 74,064,552 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
Het |
|
Other mutations in Fcgr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01490:Fcgr1
|
APN |
3 |
96,191,686 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02142:Fcgr1
|
APN |
3 |
96,191,893 (GRCm39) |
missense |
probably benign |
0.41 |
IGL03086:Fcgr1
|
APN |
3 |
96,191,814 (GRCm39) |
nonsense |
probably null |
|
F5770:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
FR4737:Fcgr1
|
UTSW |
3 |
96,194,410 (GRCm39) |
missense |
probably benign |
0.01 |
FR4737:Fcgr1
|
UTSW |
3 |
96,191,820 (GRCm39) |
frame shift |
probably null |
|
R0323:Fcgr1
|
UTSW |
3 |
96,193,145 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0594:Fcgr1
|
UTSW |
3 |
96,199,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R0926:Fcgr1
|
UTSW |
3 |
96,199,682 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1951:Fcgr1
|
UTSW |
3 |
96,194,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Fcgr1
|
UTSW |
3 |
96,194,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Fcgr1
|
UTSW |
3 |
96,193,184 (GRCm39) |
missense |
probably damaging |
0.98 |
R2255:Fcgr1
|
UTSW |
3 |
96,193,233 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3941:Fcgr1
|
UTSW |
3 |
96,193,349 (GRCm39) |
missense |
probably benign |
0.13 |
R4004:Fcgr1
|
UTSW |
3 |
96,191,668 (GRCm39) |
missense |
probably benign |
0.00 |
R4409:Fcgr1
|
UTSW |
3 |
96,191,893 (GRCm39) |
missense |
probably benign |
0.41 |
R5046:Fcgr1
|
UTSW |
3 |
96,194,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R5047:Fcgr1
|
UTSW |
3 |
96,193,200 (GRCm39) |
missense |
probably benign |
0.38 |
R6970:Fcgr1
|
UTSW |
3 |
96,191,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7339:Fcgr1
|
UTSW |
3 |
96,191,615 (GRCm39) |
missense |
not run |
|
R7992:Fcgr1
|
UTSW |
3 |
96,191,897 (GRCm39) |
missense |
probably benign |
0.23 |
R8554:Fcgr1
|
UTSW |
3 |
96,199,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R9269:Fcgr1
|
UTSW |
3 |
96,193,154 (GRCm39) |
missense |
probably benign |
0.01 |
R9396:Fcgr1
|
UTSW |
3 |
96,194,390 (GRCm39) |
nonsense |
probably null |
|
V7581:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
V7582:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
X0028:Fcgr1
|
UTSW |
3 |
96,193,343 (GRCm39) |
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 |