Mutagenetix > Incidental Mutation

Incidental Mutation 'R9295:Fcer1a'

704519

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

Accession Numbers

Essential gene?

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

Stock #

R9295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173048851-173054781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173050174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 172 (Y172C)

Ref Sequence

ENSEMBL: ENSMUSP00000056882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049706] [ENSMUST00000193017] [ENSMUST00000216556] [ENSMUST00000217374]

AlphaFold

P20489

Predicted Effect

probably damaging
Transcript: ENSMUST00000049706
AA Change: Y172C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056882
Gene: ENSMUSG00000005339
AA Change: Y172C

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 damaging
Transcript: ENSMUST00000193017
AA Change: Y116C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141932
Gene: ENSMUSG00000005339
AA Change: Y116C

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,116 (GRCm39)	V7E	probably benign	Het
Adam17	A	G	12: 21,399,938 (GRCm39)	V156A	probably benign	Het
Ankrd6	A	T	4: 32,822,160 (GRCm39)	V236E	probably damaging	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,081,734 (GRCm39)	D1125E		Het
Cacna2d2	A	G	9: 107,386,419 (GRCm39)	E182G	probably benign	Het
Cct3	A	G	3: 88,212,430 (GRCm39)	K139E	probably benign	Het
Cd96	G	T	16: 45,938,244 (GRCm39)	Q74K	probably benign	Het
Cdk5rap1	A	T	2: 154,194,186 (GRCm39)	I373N	probably damaging	Het
Cep350	A	T	1: 155,738,051 (GRCm39)	Y2597*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clcn1	G	A	6: 42,290,883 (GRCm39)	G919E	probably benign	Het
Col6a4	G	A	9: 105,957,734 (GRCm39)	A30V	probably damaging	Het
Copa	T	C	1: 171,939,823 (GRCm39)	C655R	probably damaging	Het
Cpt1a	T	A	19: 3,428,441 (GRCm39)	V605E	probably damaging	Het
Ddx46	T	C	13: 55,811,599 (GRCm39)	I600T	possibly damaging	Het
Dhx9	C	A	1: 153,340,673 (GRCm39)	V656L	probably damaging	Het
Dnhd1	T	A	7: 105,363,348 (GRCm39)	M3970K	probably benign	Het
Ercc5	G	T	1: 44,198,017 (GRCm39)	V145F	probably damaging	Het
Erv3	T	C	2: 131,697,979 (GRCm39)	T127A	possibly damaging	Het
Gabra1	A	G	11: 42,044,217 (GRCm39)	M167T	probably damaging	Het
Ggt1	A	G	10: 75,421,743 (GRCm39)	H530R	probably benign	Het
Gli2	C	A	1: 118,764,996 (GRCm39)	V1052L	probably damaging	Het
Gm4491	A	C	14: 57,351,140 (GRCm39)	F84C	unknown	Het
Irf2bp1	C	T	7: 18,739,740 (GRCm39)	T460I	probably benign	Het
Klf3	A	G	5: 64,980,240 (GRCm39)	Y187C	possibly damaging	Het
Krt80	T	C	15: 101,249,652 (GRCm39)	E287G	probably benign	Het
Lama4	G	T	10: 38,948,747 (GRCm39)	V837F	probably damaging	Het
Lrig3	G	T	10: 125,850,722 (GRCm39)	C1096F	probably benign	Het
Mtrr	T	C	13: 68,719,258 (GRCm39)	R328G	possibly damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Obsl1	A	T	1: 75,476,721 (GRCm39)	D744E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4x13	G	A	2: 90,231,441 (GRCm39)	M145I	probably benign	Het
Pde4b	A	G	4: 102,112,478 (GRCm39)	T21A	probably damaging	Het
Phf20l1	G	A	15: 66,513,752 (GRCm39)	G1003D	probably damaging	Het
Phtf1	A	G	3: 103,904,893 (GRCm39)	T514A	probably benign	Het
Phykpl	A	G	11: 51,482,231 (GRCm39)	E115G	possibly damaging	Het
Pramel20	A	G	4: 143,298,704 (GRCm39)	T216A	possibly damaging	Het
Pxmp2	C	A	5: 110,433,944 (GRCm39)		probably benign	Het
Reln	A	G	5: 22,209,209 (GRCm39)	L1123P	possibly damaging	Het
Rusc2	T	C	4: 43,416,382 (GRCm39)	S563P	probably damaging	Het
Secisbp2	T	G	13: 51,808,483 (GRCm39)	S83A	probably damaging	Het
Sema3c	T	A	5: 17,932,495 (GRCm39)	M666K	probably benign	Het
Serbp1	G	T	6: 67,248,208 (GRCm39)	D114Y	probably damaging	Het
Sh3d21	T	A	4: 126,045,276 (GRCm39)	T468S	possibly damaging	Het
Shroom3	T	A	5: 93,098,478 (GRCm39)	D1319E	probably benign	Het
Skida1	T	C	2: 18,051,386 (GRCm39)	R502G	unknown	Het
Slc25a12	C	A	2: 71,128,986 (GRCm39)	G314C	possibly damaging	Het
Smg8	A	G	11: 86,968,789 (GRCm39)	V989A	probably benign	Het
Spon2	G	A	5: 33,373,844 (GRCm39)	P156S	probably damaging	Het
Stx1a	A	G	5: 135,066,370 (GRCm39)	N50S	probably benign	Het
Tmem151b	C	A	17: 45,857,806 (GRCm39)	V147L	probably benign	Het
Trim12c	C	T	7: 103,990,391 (GRCm39)	G362D	unknown	Het
Tsr1	T	C	11: 74,799,135 (GRCm39)	V772A	probably damaging	Het
Tti2	A	T	8: 31,643,550 (GRCm39)	K222*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r60	A	G	7: 5,547,218 (GRCm39)	M294T	probably null	Het
Vmn2r6	T	C	3: 64,463,484 (GRCm39)	E450G	probably benign	Het
Vmn2r60	T	A	7: 41,785,955 (GRCm39)	F253I	probably benign	Het
Wnk4	A	T	11: 101,160,078 (GRCm39)	D649V	probably damaging	Het
Zfhx4	T	C	3: 5,394,525 (GRCm39)	S1040P	probably benign	Het
Zfp112	C	T	7: 23,824,805 (GRCm39)	R262C	probably benign	Het
Zfp287	T	A	11: 62,606,115 (GRCm39)	D264V	probably benign	Het
Zfp46	T	C	4: 136,017,876 (GRCm39)	C237R	probably damaging	Het
Zfp773	C	T	7: 7,135,694 (GRCm39)	E301K	probably benign	Het
Zswim2	A	C	2: 83,748,304 (GRCm39)	V292G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATAATGTGTCCTTGGTCACCTCAC -3'
(R):5'- GATTGGCTGCTCCTTCAGAC -3'

Sequencing Primer
(F):5'- GGTCACCTCACTGAAAATTTGTTAGG -3'
(R):5'- TCAGACATCTGCTGACATGG -3'

Posted On

2022-03-25