Mutagenetix > Incidental Mutations

Incidental Mutation 'R4502:Eea1'

331865

Institutional Source

Beutler Lab

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, B230358H09Rik, A430109M19Rik

MMRRC Submission

041754-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96039565 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1233 (E1233K)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000053484
AA Change: E1233K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E1233K

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,315,798	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,776	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Atm	A	G	9: 53,495,946	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 105,565,798	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,342,399	S104C	probably damaging	Het
Cand1	T	C	10: 119,216,667	T185A	probably benign	Het
Ccdc171	A	G	4: 83,864,323	E1284G	probably damaging	Het
Chodl	A	G	16: 78,931,444	S26G	possibly damaging	Het
Cic	C	T	7: 25,288,467	P620S	probably damaging	Het
Col3a1	T	C	1: 45,348,677		probably benign	Het
Dirc2	T	C	16: 35,719,417	M345V	probably benign	Het
Dpyd	G	T	3: 118,797,537	G225C	probably damaging	Het
Dst	G	A	1: 34,247,691	V5560M	probably damaging	Het
Fryl	T	C	5: 73,088,397	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,677,991	V219I	probably benign	Het
Hc	T	C	2: 35,006,252	D1173G	probably benign	Het
Htr2a	T	A	14: 74,641,988	M19K	probably benign	Het
Kank4	G	A	4: 98,777,098	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,507,747	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klhl1	A	G	14: 96,517,846	S158P	probably benign	Het
Ldb2	T	C	5: 44,669,407	D62G	probably damaging	Het
Ldhb	T	C	6: 142,490,457	K329E	possibly damaging	Het
Mtmr7	T	C	8: 40,558,162	E285G	possibly damaging	Het
Olfr1370	A	T	13: 21,072,746	I185N	probably damaging	Het
Olfr178	T	C	16: 58,890,176	I15V	probably benign	Het
Olfr303	T	A	7: 86,395,277	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,996,607	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,302,679	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,249,478	R428I	probably benign	Het
Rbbp8nl	G	T	2: 180,279,196	T465N	possibly damaging	Het
Rpl5	T	C	5: 107,904,857	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,944,385	K154R	probably benign	Het
Sil1	T	C	18: 35,317,875	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,226,044	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,398,811	N264S	probably benign	Het
Tdrd5	T	A	1: 156,300,764	M141L	probably benign	Het
Tdrd9	T	C	12: 111,993,825	C182R	probably damaging	Het
Thap4	T	C	1: 93,750,987		probably null	Het
Tmem131	T	C	1: 36,825,479	T558A	probably benign	Het
Tnks1bp1	C	T	2: 85,062,647	R973*	probably null	Het
Ulk3	A	G	9: 57,593,229	Y307C	probably damaging	Het
Usp25	T	C	16: 77,115,396	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 79,148,930	T39S	probably benign	Het
Vps33b	G	A	7: 80,287,907	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,328,537	S130P	probably damaging	Het
Zfp236	T	C	18: 82,636,954	E730G	probably benign	Het
Zfp689	C	A	7: 127,448,753	V36L	probably benign	Het
Zfp938	A	G	10: 82,226,271	S172P	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCACACATTTGGGTTGCAGAATC -3'
(R):5'- AGGAGTGCTCTTCTTTCGTC -3'

Sequencing Primer
(F):5'- CATTTGGGTTGCAGAATCAGAATTG -3'
(R):5'- CGTCTTGATTATTCTGAACAGTTGC -3'

Posted On

2015-07-21