Mutagenetix > Incidental Mutation

Incidental Mutation 'P0031:Fcer1a'

7820

Institutional Source

Beutler Lab

Gene Symbol

Fcer1a

Ensembl Gene

ENSMUSG00000005339

Gene Name

Fc receptor, IgE, high affinity I, alpha polypeptide

Synonyms

Fce1a, FcERI, Fcr-5

MMRRC Submission

038283-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

P0031 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

173048851-173054781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173052899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 99 (K99M)

Ref Sequence

ENSEMBL: ENSMUSP00000056882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000193017]

AlphaFold

P20489

Predicted Effect

probably benign
Transcript: ENSMUST00000049706
AA Change: K99M

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339
AA Change: K99M

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
AA Change: K43M

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339
AA Change: K43M

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 80.2%
3x: 70.9%
10x: 42.6%
20x: 20.3%

Validation Efficiency

85% (81/95)

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dcc	A	G	18: 71,517,299 (GRCm39)		probably benign	Het
Epb41l3	T	A	17: 69,566,049 (GRCm39)	L410*	probably null	Het
Frmd4b	A	G	6: 97,330,991 (GRCm39)	F132S	probably damaging	Het
Glipr1l1	C	A	10: 111,896,292 (GRCm39)	F26L	probably benign	Het
Letmd1	A	G	15: 100,370,490 (GRCm39)	N62D	probably damaging	Het
Lyst	A	G	13: 13,838,616 (GRCm39)	E1844G	probably damaging	Het
Pcdhb4	A	G	18: 37,441,938 (GRCm39)	Y416C	probably damaging	Het
Rcn1	T	A	2: 105,219,414 (GRCm39)	K260*	probably null	Het
Tcerg1	A	G	18: 42,706,367 (GRCm39)	I1015V	probably benign	Het
Tet2	T	A	3: 133,185,963 (GRCm39)	Y1158F	possibly damaging	Het
Zmynd8	T	C	2: 165,662,618 (GRCm39)		probably benign	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
IGL03116:Fcer1a	APN	1	173,049,128 (GRCm39)	nonsense	probably null
IGL03343:Fcer1a	APN	1	173,053,040 (GRCm39)	missense	possibly damaging	0.86
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

2012-10-29