Incidental Mutation 'IGL03116:Fcer1a'
| ID |
419412 |
| 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: 0.051)
|
| Stock # |
IGL03116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173048851-173054781 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 173049128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 172
(Q172*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049706]
[ENSMUST00000056592]
[ENSMUST00000193017]
[ENSMUST00000216556]
[ENSMUST00000217374]
|
| AlphaFold |
P20489 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049706
AA Change: Q228*
|
| SMART Domains |
Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339
AA Change: Q228*
| 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: ENSMUST00000056592
|
| SMART Domains |
Protein: ENSMUSP00000050406
Gene: ENSMUSG00000049456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
7.9e-55 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1e-22 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193017
AA Change: Q172*
|
| SMART Domains |
Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339
AA Change: Q172*
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
| 9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,049,936 (GRCm39) |
|
probably null |
Het |
| Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
| Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
| Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,076,642 (GRCm39) |
|
probably benign |
Het |
| Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
| Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
| Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,151,282 (GRCm39) |
L231* |
probably null |
Het |
| Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,788,273 (GRCm39) |
D192V |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
| Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
| Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
| Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
| Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
| Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,044 (GRCm39) |
N605I |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
| Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
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 |
|
|
IGL02068:Fcer1a
|
APN |
1 |
173,053,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation