Incidental Mutation 'R4004:Fcgr1'
| ID |
311381 |
| 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: 0.139)
|
| Stock # |
R4004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96190225-96201285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96191668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 380
(V380A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029748]
|
| AlphaFold |
P26151 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029748
AA Change: V380A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: V380A
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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 |
|---|
| Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,904,720 (GRCm39) |
F340Y |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,593,502 (GRCm39) |
R733L |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
| Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,712,132 (GRCm39) |
I740V |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,786 (GRCm39) |
S580P |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,240,874 (GRCm39) |
S382P |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCTGACTCCATGTGTTG -3'
(R):5'- TGTGAAAATACACAGGCTGCAG -3'
Sequencing Primer
(F):5'- GACTCCATGTGTTGCAAGATC -3'
(R):5'- TACACAGGCTGCAGAGAGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation