Incidental Mutation 'IGL00930:Fcer1a'
| ID |
26656 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcer1a
|
| Ensembl Gene |
ENSMUSG00000005339 |
| Gene Name |
Fc receptor, IgE, high affinity I, alpha polypeptide |
| Synonyms |
Fce1a, FcERI, Fcr-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL00930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173048851-173054781 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 173050100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049706]
[ENSMUST00000193017]
[ENSMUST00000216556]
[ENSMUST00000217374]
|
| AlphaFold |
P20489 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049706
|
| SMART Domains |
Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
IG
|
34 |
108 |
1.08e-8 |
SMART |
|
IG
|
116 |
193 |
1.37e-1 |
SMART |
|
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193017
|
| SMART Domains |
Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
9 |
52 |
4.8e-1 |
SMART |
|
IG
|
60 |
137 |
5.7e-4 |
SMART |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217374
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal mast cell physiology and altered susceptibility to type I hypersensitivity reaction. Mice homozygous for another knock-out allele display altered development of allergic airway inflammation and airway hyperresponsiveness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
C |
7: 119,191,533 (GRCm39) |
S534P |
possibly damaging |
Het |
| Adamts15 |
G |
A |
9: 30,813,349 (GRCm39) |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,578,292 (GRCm39) |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 (GRCm39) |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,008,526 (GRCm39) |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,479,479 (GRCm39) |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 (GRCm39) |
M434L |
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 (GRCm39) |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Or7g34 |
A |
G |
9: 19,478,471 (GRCm39) |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,466,530 (GRCm39) |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,009 (GRCm39) |
H420L |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,259,726 (GRCm39) |
|
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,273,219 (GRCm39) |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,441,757 (GRCm39) |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,547,981 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tpst1 |
A |
T |
5: 130,130,975 (GRCm39) |
K148N |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,029 (GRCm39) |
T108A |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,873,315 (GRCm39) |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,478,302 (GRCm39) |
T160A |
possibly damaging |
Het |
|
| Other mutations in Fcer1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02068:Fcer1a
|
APN |
1 |
173,053,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03116:Fcer1a
|
APN |
1 |
173,049,128 (GRCm39) |
nonsense |
probably null |
|
|
IGL03343:Fcer1a
|
APN |
1 |
173,053,040 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
P0031:Fcer1a
|
UTSW |
1 |
173,052,899 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1772:Fcer1a
|
UTSW |
1 |
173,053,004 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2163:Fcer1a
|
UTSW |
1 |
173,050,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4079:Fcer1a
|
UTSW |
1 |
173,052,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Fcer1a
|
UTSW |
1 |
173,050,208 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5092:Fcer1a
|
UTSW |
1 |
173,053,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6633:Fcer1a
|
UTSW |
1 |
173,054,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6719:Fcer1a
|
UTSW |
1 |
173,050,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7404:Fcer1a
|
UTSW |
1 |
173,049,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7477:Fcer1a
|
UTSW |
1 |
173,048,851 (GRCm39) |
splice site |
probably null |
|
|
R7756:Fcer1a
|
UTSW |
1 |
173,049,142 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8798:Fcer1a
|
UTSW |
1 |
173,053,047 (GRCm39) |
missense |
probably benign |
|
|
R9295:Fcer1a
|
UTSW |
1 |
173,050,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9559:Fcer1a
|
UTSW |
1 |
173,052,884 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9686:Fcer1a
|
UTSW |
1 |
173,052,980 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
RF016:Fcer1a
|
UTSW |
1 |
173,053,086 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0012:Fcer1a
|
UTSW |
1 |
173,049,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-04-17 |
Incidental Mutation