Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02971:Eea1'

365803

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

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL02971

Quality Score

Status

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96041527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1368 (T1368A)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably benign
Transcript: ENSMUST00000053484
AA Change: T1368A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: T1368A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930018P22Rik	C	T	2: 104,123,219	T130I	probably benign	Het
Ahi1	T	C	10: 21,000,551	L787P	possibly damaging	Het
Atf3	A	G	1: 191,177,443	S10P	probably benign	Het
Cdr2l	A	G	11: 115,390,900	N77S	probably damaging	Het
Cnp	A	G	11: 100,576,699	D156G	probably benign	Het
Cntn3	A	T	6: 102,168,933	D982E	probably damaging	Het
Col22a1	A	G	15: 72,006,738	L190S	probably damaging	Het
Csmd3	C	T	15: 47,913,929		probably benign	Het
Dnah5	A	G	15: 28,384,461	D3117G	probably damaging	Het
Dock5	T	C	14: 67,757,109	E1834G	probably null	Het
Fam83f	T	C	15: 80,672,149	V78A	probably benign	Het
Fcgbp	G	A	7: 28,101,473	V1315I	probably damaging	Het
Fsd2	A	T	7: 81,548,923	Y364*	probably null	Het
Gm21976	G	A	13: 98,302,549	G16R	probably null	Het
Guca2b	A	G	4: 119,657,688	S59P	probably damaging	Het
Hars2	A	G	18: 36,786,178	E123G	probably damaging	Het
Hdac2	A	T	10: 37,000,374	K462*	probably null	Het
Huwe1	T	A	X: 151,927,626		probably benign	Het
Iqgap3	T	A	3: 88,090,304	N262K	probably benign	Het
Kat6b	A	G	14: 21,669,758	S1502G	probably damaging	Het
Mapkapk3	A	T	9: 107,257,080	D328E	probably benign	Het
Mgea5	A	G	19: 45,762,243	F671S	probably damaging	Het
Naca	C	T	10: 128,041,568		probably benign	Het
Npffr1	T	C	10: 61,614,139	V64A	probably damaging	Het
Olfr331	A	G	11: 58,502,385	L57P	probably damaging	Het
Olfr918	T	A	9: 38,673,268	M72L	probably damaging	Het
Pcca	A	G	14: 122,889,533	D718G	probably damaging	Het
Pde6a	A	C	18: 61,264,255	D670A	probably damaging	Het
Pramel7	T	A	2: 87,490,073	E292V	probably benign	Het
Prmt9	A	C	8: 77,565,069	M357L	probably benign	Het
Ptgfr	A	T	3: 151,835,326	S182T	probably benign	Het
Rtraf	A	T	14: 19,816,192	M152K	possibly damaging	Het
Satb1	T	C	17: 51,742,689	D579G	possibly damaging	Het
Serpinb6a	A	G	13: 33,931,470		probably null	Het
Slc5a9	T	C	4: 111,890,300	I297V	possibly damaging	Het
Slf1	T	A	13: 77,047,104		probably benign	Het
St8sia2	C	T	7: 73,966,811	V139M	probably damaging	Het
Tas2r114	T	C	6: 131,689,280	M262V	probably benign	Het
Tmem147	A	G	7: 30,729,422		probably benign	Het
Tmem220	A	G	11: 67,034,107		probably null	Het
Uspl1	A	G	5: 149,188,346	N35S	possibly damaging	Het
Vmn1r170	A	T	7: 23,606,334	I54F	possibly damaging	Het
Vmn2r121	T	G	X: 124,127,894	I810L	probably damaging	Het
Wbp2nl	A	T	15: 82,305,744	T46S	possibly damaging	Het
Zfp955b	T	A	17: 33,300,966	M57K	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
IGL02229:Eea1	APN	10	96018184	missense	probably damaging	1.00
IGL02885:Eea1	APN	10	96041484	missense	probably benign	0.04
IGL03223:Eea1	APN	10	96039611	missense	probably damaging	1.00
IGL03355:Eea1	APN	10	96042212	utr 3 prime	probably benign
prom	UTSW	10	95995570	missense	probably benign	0.02
R4876_eea1_897	UTSW	10	95995613	missense	probably benign	0.07
Senior	UTSW	10	96011037	missense	probably benign
Slump	UTSW	10	96036633	missense	probably benign	0.00
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
R7269:Eea1	UTSW	10	96018138	missense	probably damaging	1.00
R7273:Eea1	UTSW	10	95989631	missense	probably benign	0.00
R7398:Eea1	UTSW	10	95995631	missense	probably benign
R7400:Eea1	UTSW	10	95995570	missense	probably benign	0.02
R7537:Eea1	UTSW	10	95994905	nonsense	probably null
R7687:Eea1	UTSW	10	96026598	missense	probably benign
R7762:Eea1	UTSW	10	96028439	missense	probably benign	0.10
R8097:Eea1	UTSW	10	96026654	missense	probably benign	0.01
R8114:Eea1	UTSW	10	95994989	nonsense	probably null
R8803:Eea1	UTSW	10	96023991	missense	probably benign	0.13
R8853:Eea1	UTSW	10	96021655	missense
R8856:Eea1	UTSW	10	95995644	missense	probably benign	0.04
R8901:Eea1	UTSW	10	95989569	missense	probably damaging	1.00
R8907:Eea1	UTSW	10	95990412	missense	probably damaging	1.00
R8944:Eea1	UTSW	10	95996960	missense	probably damaging	1.00
R8960:Eea1	UTSW	10	96028519	missense	probably benign	0.00
R8966:Eea1	UTSW	10	95997039	missense	probably damaging	0.96
R8983:Eea1	UTSW	10	96019879	nonsense	probably null
R9069:Eea1	UTSW	10	95995648	missense	probably damaging	0.99
R9240:Eea1	UTSW	10	95940962	missense	probably benign	0.00
R9287:Eea1	UTSW	10	95995583	missense	probably damaging	1.00
R9661:Eea1	UTSW	10	96026880	missense	probably benign	0.00

Posted On

2015-12-18