Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02229:Eea1'

285433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, B230358H09Rik, A430109M19Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

IGL02229

Quality Score

Status

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96018184 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 568 (E568V)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053484] [ENSMUST00000218291]

Predicted Effect

probably damaging
Transcript: ENSMUST00000053484
AA Change: E568V

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

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E568V

Domain	Start	End	E-Value	Type
ZnF_C2H2	41	64	2.2e-2	SMART
low complexity region	98	123	N/A	INTRINSIC
low complexity region	135	148	N/A	INTRINSIC
low complexity region	389	408	N/A	INTRINSIC
low complexity region	480	500	N/A	INTRINSIC
low complexity region	573	585	N/A	INTRINSIC
low complexity region	616	630	N/A	INTRINSIC
low complexity region	645	660	N/A	INTRINSIC
low complexity region	748	760	N/A	INTRINSIC
low complexity region	909	924	N/A	INTRINSIC
low complexity region	947	958	N/A	INTRINSIC
low complexity region	996	1010	N/A	INTRINSIC
low complexity region	1165	1176	N/A	INTRINSIC
low complexity region	1198	1217	N/A	INTRINSIC
FYVE	1344	1411	1.99e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218088

Predicted Effect

probably benign
Transcript: ENSMUST00000218291

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,353	D144G	probably damaging	Het
Adgrg1	G	T	8: 95,003,511	D114Y	probably damaging	Het
Ago4	T	A	4: 126,511,532	N416I	probably benign	Het
Aoc1	C	T	6: 48,905,909	Q240*	probably null	Het
Atl1	G	A	12: 69,926,025	V40I	probably benign	Het
Cdh2	T	C	18: 16,624,753	I591V	probably benign	Het
Cic	C	A	7: 25,290,950	Q1959K	probably damaging	Het
Cmya5	C	T	13: 93,092,686	E1965K	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspp1	T	C	1: 10,083,556	S397P	probably damaging	Het
D130043K22Rik	T	C	13: 24,875,924	Y593H	probably damaging	Het
Dck	A	G	5: 88,774,105	Y142C	probably damaging	Het
Gabra3	A	G	X: 72,501,077		probably null	Het
Gucy2f	A	G	X: 142,179,988	S342P	probably benign	Het
Hbb-bh1	T	A	7: 103,842,825	I61F	possibly damaging	Het
Hook1	T	C	4: 96,001,251	S235P	possibly damaging	Het
Hoxd12	G	A	2: 74,675,934	R230H	probably damaging	Het
Iglc2	C	T	16: 19,198,733	A41T	probably benign	Het
Il1r1	A	G	1: 40,313,358	K566E	probably damaging	Het
Kcns3	A	T	12: 11,092,092	M202K	probably damaging	Het
Krt7	C	A	15: 101,427,616	A442D	probably benign	Het
Ltk	C	T	2: 119,758,573	R200H	probably benign	Het
Macf1	G	T	4: 123,509,826	D582E	probably damaging	Het
Mbnl3	A	T	X: 51,139,341	Y69N	probably damaging	Het
Mpp1	T	C	X: 75,121,428		probably benign	Het
Myo18b	A	G	5: 112,878,110	S25P	unknown	Het
Nsd3	A	G	8: 25,710,748	N1289S	probably damaging	Het
Olfr26	T	A	9: 38,855,416	M118K	possibly damaging	Het
Pacs2	A	G	12: 113,056,800		probably benign	Het
Rab3gap2	A	G	1: 185,259,383	K689E	possibly damaging	Het
Sva	T	A	6: 42,042,222	C109S	probably damaging	Het
Taf3	T	C	2: 9,952,834	N174S	probably damaging	Het
Tbc1d5	A	T	17: 50,852,600	M393K	probably damaging	Het
Tmem242	A	T	17: 5,411,407	S129T	probably benign	Het
Ttn	A	T	2: 76,871,169		probably benign	Het

Other mutations in Eea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Eea1	APN	10	96031677	missense	probably damaging	0.99
IGL01645:Eea1	APN	10	95989589	missense	probably damaging	1.00
IGL01646:Eea1	APN	10	95997015	missense	probably damaging	0.99
IGL01870:Eea1	APN	10	95973986	missense	probably damaging	1.00
IGL02074:Eea1	APN	10	96037487	missense	probably damaging	1.00
IGL02885:Eea1	APN	10	96041484	missense	probably benign	0.04
IGL02971:Eea1	APN	10	96041527	missense	probably benign	0.37
IGL03223:Eea1	APN	10	96039611	missense	probably damaging	1.00
IGL03355:Eea1	APN	10	96042212	utr 3 prime	probably benign
R0189:Eea1	UTSW	10	95995582	missense	possibly damaging	0.86
R0374:Eea1	UTSW	10	96039772	splice site	probably benign
R0655:Eea1	UTSW	10	95995598	missense	probably benign	0.00
R0883:Eea1	UTSW	10	96021667	missense	possibly damaging	0.63
R1219:Eea1	UTSW	10	96010761	splice site	probably benign
R1344:Eea1	UTSW	10	95994999	critical splice donor site	probably null
R1768:Eea1	UTSW	10	95996960	missense	probably damaging	1.00
R1887:Eea1	UTSW	10	96018211	critical splice donor site	probably null
R2224:Eea1	UTSW	10	96020012	missense	probably damaging	0.99
R2927:Eea1	UTSW	10	96013358	missense	probably benign	0.00
R3922:Eea1	UTSW	10	96036633	missense	probably benign	0.00
R3950:Eea1	UTSW	10	96042134	missense	probably damaging	1.00
R4502:Eea1	UTSW	10	96039565	missense	probably benign	0.14
R4647:Eea1	UTSW	10	96028393	missense	probably benign
R4876:Eea1	UTSW	10	95995613	missense	probably benign	0.07
R5009:Eea1	UTSW	10	96011021	missense	probably benign
R5018:Eea1	UTSW	10	96011037	missense	probably benign
R5490:Eea1	UTSW	10	96026054	missense	probably benign	0.41
R5588:Eea1	UTSW	10	96023910	missense	probably benign	0.01
R5791:Eea1	UTSW	10	96019995	missense	probably benign	0.24
R5799:Eea1	UTSW	10	96002948	missense	possibly damaging	0.81
R5842:Eea1	UTSW	10	96018124	missense	probably damaging	1.00
R6332:Eea1	UTSW	10	96041473	missense	possibly damaging	0.79
R6376:Eea1	UTSW	10	96038798	missense	probably benign	0.01
R6468:Eea1	UTSW	10	96028412	missense	probably benign	0.14
R6740:Eea1	UTSW	10	96023993	missense	probably benign
R6889:Eea1	UTSW	10	96037478	missense	probably benign	0.14
R6904:Eea1	UTSW	10	96002879	splice site	probably null

Posted On

2015-04-16