Incidental Mutation 'IGL02068:Fcer1a'
| ID |
283330 |
| 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 # |
IGL02068
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173048851-173054781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173053071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 42
(G42R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049706]
[ENSMUST00000193017]
|
| AlphaFold |
P20489 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049706
AA Change: G42R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339
AA Change: G42R
| 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 |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
A |
14: 68,814,558 (GRCm39) |
I140F |
probably benign |
Het |
| Cfap58 |
T |
C |
19: 47,974,951 (GRCm39) |
L704P |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,865,827 (GRCm39) |
V805A |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,951,871 (GRCm39) |
E1876G |
probably damaging |
Het |
| Dock1 |
A |
T |
7: 134,373,277 (GRCm39) |
E548V |
probably benign |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Esm1 |
T |
G |
13: 113,346,630 (GRCm39) |
F85C |
probably damaging |
Het |
| Fcer1g |
A |
T |
1: 171,058,760 (GRCm39) |
Y43N |
probably damaging |
Het |
| Grik1 |
G |
T |
16: 87,737,539 (GRCm39) |
T585K |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,709,636 (GRCm39) |
I184T |
probably benign |
Het |
| Hsd11b1 |
G |
A |
1: 192,904,354 (GRCm39) |
R282* |
probably null |
Het |
| Lig1 |
T |
A |
7: 13,026,377 (GRCm39) |
|
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,222 (GRCm39) |
K92E |
possibly damaging |
Het |
| Phip |
A |
G |
9: 82,827,861 (GRCm39) |
S184P |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,592,971 (GRCm39) |
G1714D |
probably damaging |
Het |
| Plppr4 |
A |
G |
3: 117,125,433 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
G |
A |
9: 31,248,646 (GRCm39) |
R356Q |
probably damaging |
Het |
| Rasgrp1 |
C |
T |
2: 117,131,059 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
C |
T |
2: 119,613,135 (GRCm39) |
E138K |
probably benign |
Het |
| Sidt2 |
A |
C |
9: 45,856,962 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
A |
G |
13: 58,706,411 (GRCm39) |
L610P |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,858,599 (GRCm39) |
|
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,601 (GRCm39) |
A444V |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,092,899 (GRCm39) |
E1459G |
probably damaging |
Het |
| Tbc1d9 |
T |
C |
8: 83,966,497 (GRCm39) |
L366P |
probably damaging |
Het |
| Tbk1 |
A |
T |
10: 121,406,694 (GRCm39) |
H181Q |
probably damaging |
Het |
| Wrn |
C |
A |
8: 33,800,777 (GRCm39) |
G612V |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,220,945 (GRCm39) |
Y595H |
probably damaging |
Het |
|
| Other mutations in Fcer1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00930:Fcer1a
|
APN |
1 |
173,050,100 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation