Incidental Mutation 'IGL00930:Fcer1a'
ID26656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcer1a
Ensembl Gene ENSMUSG00000005339
Gene NameFc receptor, IgE, high affinity I, alpha polypeptide
SynonymsFcr-5, Fce1a, FcERI
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #IGL00930
Quality Score
Status
Chromosome1
Chromosomal Location173221284-173227214 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 173222533 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]
Predicted Effect probably benign
Transcript: ENSMUST00000049706
SMART Domains Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,592,310 S534P possibly damaging Het
Adamts15 G A 9: 30,902,053 P939S probably damaging Het
Alms1 T C 6: 85,601,310 S207P probably damaging Het
Chd7 A G 4: 8,805,181 K747E probably damaging Het
Dock5 G T 14: 67,771,077 N1457K probably damaging Het
Donson T C 16: 91,682,591 E323G possibly damaging Het
Epc1 T A 18: 6,449,196 M434L probably benign Het
Hemgn A T 4: 46,396,383 C284* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Olfr854 A G 9: 19,567,175 S67P probably damaging Het
Pcdh15 G A 10: 74,630,698 E1450K probably benign Het
Pfpl A T 19: 12,429,645 H420L probably benign Het
Pitpnm2 A G 5: 124,121,663 probably benign Het
Pole2 A G 12: 69,226,445 probably benign Het
Prmt3 T A 7: 49,792,009 Y245N probably damaging Het
Rpl10a T C 17: 28,329,007 Y41H probably damaging Het
Tpst1 A T 5: 130,102,134 K148N probably benign Het
Vmn1r199 A G 13: 22,382,859 T108A possibly damaging Het
Wdr7 T A 18: 63,740,244 C525* probably null Het
Zfp646 A G 7: 127,879,130 T160A possibly damaging Het
Other mutations in Fcer1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02068:Fcer1a APN 1 173225504 missense probably damaging 1.00
IGL03116:Fcer1a APN 1 173221561 nonsense probably null
IGL03343:Fcer1a APN 1 173225473 missense possibly damaging 0.86
P0031:Fcer1a UTSW 1 173225332 missense probably benign 0.30
R1772:Fcer1a UTSW 1 173225437 missense probably benign 0.04
R2163:Fcer1a UTSW 1 173222697 missense probably damaging 1.00
R4079:Fcer1a UTSW 1 173225353 missense probably damaging 1.00
R4618:Fcer1a UTSW 1 173222641 missense possibly damaging 0.90
R5092:Fcer1a UTSW 1 173225455 missense probably damaging 0.98
R6633:Fcer1a UTSW 1 173226726 critical splice donor site probably null
R6719:Fcer1a UTSW 1 173222773 missense possibly damaging 0.90
R7404:Fcer1a UTSW 1 173221516 missense probably damaging 0.99
R7477:Fcer1a UTSW 1 173221284 splice site probably null
R7756:Fcer1a UTSW 1 173221575 missense probably damaging 0.96
RF016:Fcer1a UTSW 1 173225519 missense possibly damaging 0.85
X0012:Fcer1a UTSW 1 173221548 missense possibly damaging 0.95
Posted On2013-04-17