Incidental Mutation 'R5047:Fcgr1'
| ID |
394405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcgr1
|
| Ensembl Gene |
ENSMUSG00000015947 |
| Gene Name |
Fc receptor, IgG, high affinity I |
| Synonyms |
CD64, FcgammaRI |
| MMRRC Submission |
042637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R5047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96190225-96201285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96193200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 266
(F266I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029748]
|
| AlphaFold |
P26151 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029748
AA Change: F266I
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029748
Gene: ENSMUSG00000015947
AA Change: F266I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
96% (49/51) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
A |
T |
14: 44,406,698 (GRCm39) |
M117K |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,886,922 (GRCm39) |
A1020T |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,007,895 (GRCm39) |
A526D |
probably damaging |
Het |
| Atg3 |
C |
A |
16: 44,998,595 (GRCm39) |
D132E |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,134,037 (GRCm39) |
M4T |
possibly damaging |
Het |
| Cdon |
G |
A |
9: 35,389,935 (GRCm39) |
R863Q |
probably damaging |
Het |
| Cyp2d40 |
C |
T |
15: 82,644,460 (GRCm39) |
R255H |
unknown |
Het |
| Evi5 |
T |
C |
5: 107,969,740 (GRCm39) |
K57R |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,567 (GRCm39) |
E253G |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gm10142 |
G |
T |
10: 77,551,996 (GRCm39) |
C119F |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,008,202 (GRCm39) |
S309G |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,578,080 (GRCm39) |
H696L |
possibly damaging |
Het |
| Kif13a |
T |
C |
13: 46,941,561 (GRCm39) |
H972R |
probably benign |
Het |
| Lama1 |
C |
T |
17: 68,050,276 (GRCm39) |
Q296* |
probably null |
Het |
| Lmf1 |
C |
T |
17: 25,850,812 (GRCm39) |
|
probably benign |
Het |
| Lpp |
T |
C |
16: 24,790,596 (GRCm39) |
C352R |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,881 (GRCm39) |
|
probably benign |
Het |
| Maml3 |
G |
T |
3: 51,598,262 (GRCm39) |
D807E |
possibly damaging |
Het |
| Mdc1 |
T |
A |
17: 36,158,736 (GRCm39) |
V372D |
probably benign |
Het |
| Mst1 |
C |
A |
9: 107,961,508 (GRCm39) |
H579Q |
probably benign |
Het |
| Or11g24 |
T |
C |
14: 50,662,696 (GRCm39) |
F240S |
probably damaging |
Het |
| Or1r1 |
T |
C |
11: 73,875,204 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a39 |
A |
G |
2: 89,237,057 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8d1 |
G |
A |
9: 38,766,585 (GRCm39) |
V76I |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,640,251 (GRCm39) |
H472L |
probably benign |
Het |
| Plscr3 |
A |
G |
11: 69,740,917 (GRCm39) |
|
probably null |
Het |
| Rab7 |
A |
T |
6: 87,982,205 (GRCm39) |
|
probably null |
Het |
| Rad50 |
A |
G |
11: 53,565,523 (GRCm39) |
|
probably null |
Het |
| Scgb1b20 |
A |
G |
7: 33,072,737 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
C |
2: 66,392,824 (GRCm39) |
L256R |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,195,588 (GRCm39) |
Q260H |
probably damaging |
Het |
| Tatdn3 |
T |
A |
1: 190,778,475 (GRCm39) |
I239F |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,986 (GRCm39) |
S578P |
possibly damaging |
Het |
| Top3b |
A |
G |
16: 16,709,282 (GRCm39) |
T657A |
probably benign |
Het |
| Tstd3 |
A |
G |
4: 21,759,621 (GRCm39) |
|
probably null |
Het |
| Ttc4 |
A |
T |
4: 106,525,435 (GRCm39) |
L233H |
probably damaging |
Het |
| Vmn2r130 |
T |
A |
17: 23,282,794 (GRCm39) |
M158K |
probably benign |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,843 (GRCm39) |
C331* |
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 |
|
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'- GGTGACTGCAGTTCTGAAGG -3'
(R):5'- GAATACCCTGTCCCTTGTCAAC -3'
Sequencing Primer
(F):5'- AAGGAGGCGTAGAGTGTTCCTC -3'
(R):5'- TAGAGCTGTTTACCACGCCAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation