Incidental Mutation 'IGL01490:Fcgr1'
ID |
88811 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01490
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96190225-96201285 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96191686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 374
(D374G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029748]
|
AlphaFold |
P26151 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029748
AA Change: D374G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000029748 Gene: ENSMUSG00000015947 AA Change: D374G
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
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
A |
G |
2: 25,336,023 (GRCm39) |
Y2131C |
probably damaging |
Het |
Ano6 |
T |
A |
15: 95,846,291 (GRCm39) |
S510T |
probably benign |
Het |
Asb16 |
A |
T |
11: 102,167,575 (GRCm39) |
N314Y |
probably damaging |
Het |
Atp6v0b |
G |
A |
4: 117,742,303 (GRCm39) |
Q150* |
probably null |
Het |
Chct1 |
A |
G |
11: 85,069,138 (GRCm39) |
D52G |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cmklr2 |
T |
C |
1: 63,222,455 (GRCm39) |
Y260C |
probably damaging |
Het |
Crim1 |
A |
G |
17: 78,642,725 (GRCm39) |
D481G |
possibly damaging |
Het |
Dnajb2 |
T |
C |
1: 75,213,534 (GRCm39) |
S3P |
probably damaging |
Het |
Dnajb9 |
A |
T |
12: 44,253,869 (GRCm39) |
S179R |
possibly damaging |
Het |
Dock2 |
A |
T |
11: 34,596,608 (GRCm39) |
I416N |
probably damaging |
Het |
Dock7 |
G |
T |
4: 98,833,355 (GRCm39) |
|
probably benign |
Het |
Eif6 |
T |
C |
2: 155,668,102 (GRCm39) |
I46V |
probably benign |
Het |
Gatad2b |
A |
G |
3: 90,259,385 (GRCm39) |
I374V |
possibly damaging |
Het |
Gfpt2 |
T |
C |
11: 49,717,954 (GRCm39) |
|
probably benign |
Het |
H2-M10.2 |
G |
T |
17: 36,596,377 (GRCm39) |
T156K |
probably damaging |
Het |
Il20rb |
T |
A |
9: 100,355,207 (GRCm39) |
I79F |
probably damaging |
Het |
Kcnip3 |
C |
T |
2: 127,352,799 (GRCm39) |
R44H |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,057,579 (GRCm39) |
D551V |
possibly damaging |
Het |
Mex3b |
C |
A |
7: 82,519,035 (GRCm39) |
P450Q |
possibly damaging |
Het |
Mmp20 |
T |
C |
9: 7,628,330 (GRCm39) |
L26P |
probably benign |
Het |
Msh3 |
G |
A |
13: 92,436,813 (GRCm39) |
T499M |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,957,566 (GRCm39) |
S1466G |
possibly damaging |
Het |
Myom3 |
A |
G |
4: 135,538,089 (GRCm39) |
R1324G |
possibly damaging |
Het |
Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
Ptpn6 |
T |
A |
6: 124,705,307 (GRCm39) |
E208V |
probably damaging |
Het |
Qpct |
T |
C |
17: 79,397,169 (GRCm39) |
V354A |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,676,715 (GRCm39) |
I108V |
possibly damaging |
Het |
Tmem67 |
A |
G |
4: 12,057,422 (GRCm39) |
|
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,796,914 (GRCm39) |
I206N |
probably damaging |
Het |
Vmn1r173 |
A |
T |
7: 23,402,132 (GRCm39) |
K122N |
probably benign |
Het |
Wdr35 |
G |
T |
12: 9,027,381 (GRCm39) |
G54V |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,291,147 (GRCm39) |
C2153S |
probably damaging |
Het |
|
Other mutations in Fcgr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
V7583:Fcgr1
|
UTSW |
3 |
96,191,592 (GRCm39) |
makesense |
probably null |
|
X0028:Fcgr1
|
UTSW |
3 |
96,193,343 (GRCm39) |
missense |
probably benign |
0.29 |
|
Posted On |
2013-11-18 |