Mutagenetix > Incidental Mutation

Incidental Mutation 'R3922:Eea1'

306987

Institutional Source

Beutler Lab

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, B230358H09Rik, A430109M19Rik

MMRRC Submission

040819-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96036633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1068 (N1068K)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably benign
Transcript: ENSMUST00000053484
AA Change: N1068K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: N1068K

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

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,480,560	E432V	probably benign	Het
Ahnak	G	A	19: 9,006,328	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,274,805	R405W	probably damaging	Het
Arhgef28	A	G	13: 97,993,944	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Cdkl1	G	T	12: 69,756,599	R168S	probably damaging	Het
Cep70	T	A	9: 99,275,579	*117R	probably null	Het
Cnnm1	A	G	19: 43,440,445	M1V	probably null	Het
Cntrl	A	G	2: 35,129,739	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Ddx59	T	A	1: 136,416,744	V51D	probably benign	Het
Dtd2	G	C	12: 52,004,951		probably null	Het
Egfr	T	A	11: 16,881,495	C555S	probably damaging	Het
Esd	A	T	14: 74,743,227	Q130H	probably benign	Het
Gm38100	T	C	1: 175,921,286	V306A	probably benign	Het
Gpr89	A	T	3: 96,890,899	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,325,685	I76L	probably benign	Het
Lgi4	A	T	7: 31,067,448	D300V	probably benign	Het
Lrp1b	C	A	2: 40,677,581	V276L	unknown	Het
Lrp2	T	C	2: 69,506,376	K1351E	probably benign	Het
Mroh8	T	C	2: 157,222,811	I782V	probably benign	Het
Msrb1	T	C	17: 24,740,083	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585	M547T	possibly damaging	Het
Olfr1501	T	C	19: 13,838,766	T136A	probably damaging	Het
Olfr615	T	C	7: 103,560,705	V76A	probably benign	Het
Olfr769	C	A	10: 129,111,613	V271F	possibly damaging	Het
P4htm	T	C	9: 108,582,895	N227D	probably benign	Het
Plekhm2	T	C	4: 141,629,532	T787A	probably benign	Het
Pramel5	A	G	4: 144,273,052	L155P	probably damaging	Het
Sbno1	T	C	5: 124,381,930	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,526,873	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,318,882	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,387,085	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,552,727	I297N	probably benign	Het
Ssh1	T	G	5: 113,942,708	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,889,009	D583G	probably damaging	Het
Usp28	T	C	9: 49,030,923		probably null	Het
Wdr43	A	G	17: 71,638,301		probably benign	Het
Zfhx4	A	G	3: 5,400,647	Y1955C	probably damaging	Het
Zfp108	G	A	7: 24,261,348	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,083,012		noncoding transcript	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ATAGCCCAGGTATGGTGTAGG -3'
(R):5'- GTCTCAGATCCTCTCGAGTCTG -3'

Sequencing Primer
(F):5'- CCCAGGTATGGTGTAGGCTACAATG -3'
(R):5'- CAGATCCTCTCGAGTCTGAGGTAAG -3'

Posted On

2015-04-17