Mutagenetix > Incidental Mutation

Incidental Mutation 'R1344:Eea1'

200747

Institutional Source

Beutler Lab

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, A430109M19Rik, B230358H09Rik

MMRRC Submission

039409-MU

Accession Numbers

Essential gene?

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

Stock #

R1344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95776525-95881380 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 95830861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053484] [ENSMUST00000218291] [ENSMUST00000218517]

AlphaFold

Q8BL66

Predicted Effect

probably null
Transcript: ENSMUST00000053484

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218517

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Aco1	T	C	4: 40,179,008 (GRCm39)	Y336H	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Asxl2	A	G	12: 3,543,790 (GRCm39)	K320E	probably damaging	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
B4galnt2	A	C	11: 95,760,181 (GRCm39)	I282S	probably benign	Het
Bcl2l13	T	C	6: 120,853,288 (GRCm39)	I191T	probably benign	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cd109	A	T	9: 78,579,832 (GRCm39)		probably null	Het
Cdc34	G	A	10: 79,521,134 (GRCm39)	A128T	probably damaging	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col12a1	T	A	9: 79,606,837 (GRCm39)	K529*	probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dlec1	G	A	9: 118,959,085 (GRCm39)	E910K	probably benign	Het
Dnajc19	T	A	3: 34,112,161 (GRCm39)	N128I	probably damaging	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Extl1	T	C	4: 134,086,552 (GRCm39)	D501G	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Fxr2	A	G	11: 69,539,710 (GRCm39)	H247R	possibly damaging	Het
Gask1a	A	T	9: 121,807,452 (GRCm39)	H532L	probably damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Helz2	T	C	2: 180,879,389 (GRCm39)	D743G	possibly damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Ifitm1	C	T	7: 140,548,263 (GRCm39)	T32M	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Lrit2	A	G	14: 36,790,513 (GRCm39)	N64S	probably benign	Het
Lsm14a	A	T	7: 34,052,982 (GRCm39)	D322E	probably damaging	Het
Macf1	T	G	4: 123,327,246 (GRCm39)	R4752S	probably damaging	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mpdz	T	A	4: 81,226,556 (GRCm39)	T1360S	probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Myh3	A	G	11: 66,983,158 (GRCm39)	E895G	probably benign	Het
Ncan	A	C	8: 70,560,819 (GRCm39)	I716R	probably benign	Het
Ncor2	C	T	5: 125,102,510 (GRCm39)	R1867K	probably damaging	Het
Oas1d	C	T	5: 121,052,959 (GRCm39)	L5F	probably damaging	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or11h4b	T	A	14: 50,918,315 (GRCm39)	M259L	probably benign	Het
Or13a17	T	C	7: 140,271,712 (GRCm39)	V298A	probably damaging	Het
Or3a4	A	T	11: 73,945,038 (GRCm39)	C182*	probably null	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde1c	T	C	6: 56,338,752 (GRCm39)	I27V	probably benign	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Piezo2	T	A	18: 63,154,325 (GRCm39)	I2485F	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plscr1	C	T	9: 92,141,357 (GRCm39)	T15I	unknown	Het
Rd3	T	C	1: 191,717,262 (GRCm39)	*106R	probably null	Het
Rnf125	A	G	18: 21,114,288 (GRCm39)	I97V	possibly damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Sf3b3	G	C	8: 111,564,935 (GRCm39)	A291G	probably damaging	Het
Simc1	T	C	13: 54,698,292 (GRCm39)	V403A	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Slco1a8	A	G	6: 141,931,344 (GRCm39)	S474P	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Speer4a3	T	A	5: 26,158,107 (GRCm39)	T82S	probably benign	Het
Stoml2	T	A	4: 43,028,197 (GRCm39)	I344F	probably benign	Het
Tet1	C	T	10: 62,650,300 (GRCm39)	R1636H	probably damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Ust	C	A	10: 8,173,954 (GRCm39)	V184F	possibly damaging	Het
Wdr95	G	A	5: 149,511,563 (GRCm39)	C421Y	probably damaging	Het

Other mutations in Eea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Eea1	APN	10	95,867,539 (GRCm39)	missense	probably damaging	0.99
IGL01645:Eea1	APN	10	95,825,451 (GRCm39)	missense	probably damaging	1.00
IGL01646:Eea1	APN	10	95,832,877 (GRCm39)	missense	probably damaging	0.99
IGL01870:Eea1	APN	10	95,809,848 (GRCm39)	missense	probably damaging	1.00
IGL02074:Eea1	APN	10	95,873,349 (GRCm39)	missense	probably damaging	1.00
IGL02229:Eea1	APN	10	95,854,046 (GRCm39)	missense	probably damaging	1.00
IGL02885:Eea1	APN	10	95,877,346 (GRCm39)	missense	probably benign	0.04
IGL02971:Eea1	APN	10	95,877,389 (GRCm39)	missense	probably benign	0.37
IGL03223:Eea1	APN	10	95,875,473 (GRCm39)	missense	probably damaging	1.00
IGL03355:Eea1	APN	10	95,878,074 (GRCm39)	utr 3 prime	probably benign
prom	UTSW	10	95,831,432 (GRCm39)	missense	probably benign	0.02
R4876_eea1_897	UTSW	10	95,831,475 (GRCm39)	missense	probably benign	0.07
Senior	UTSW	10	95,846,899 (GRCm39)	missense	probably benign
Slump	UTSW	10	95,872,495 (GRCm39)	missense	probably benign	0.00
R0189:Eea1	UTSW	10	95,831,444 (GRCm39)	missense	possibly damaging	0.86
R0374:Eea1	UTSW	10	95,875,634 (GRCm39)	splice site	probably benign
R0655:Eea1	UTSW	10	95,831,460 (GRCm39)	missense	probably benign	0.00
R0883:Eea1	UTSW	10	95,857,529 (GRCm39)	missense	possibly damaging	0.63
R1219:Eea1	UTSW	10	95,846,623 (GRCm39)	splice site	probably benign
R1768:Eea1	UTSW	10	95,832,822 (GRCm39)	missense	probably damaging	1.00
R1887:Eea1	UTSW	10	95,854,073 (GRCm39)	critical splice donor site	probably null
R2224:Eea1	UTSW	10	95,855,874 (GRCm39)	missense	probably damaging	0.99
R2927:Eea1	UTSW	10	95,849,220 (GRCm39)	missense	probably benign	0.00
R3922:Eea1	UTSW	10	95,872,495 (GRCm39)	missense	probably benign	0.00
R3950:Eea1	UTSW	10	95,877,996 (GRCm39)	missense	probably damaging	1.00
R4502:Eea1	UTSW	10	95,875,427 (GRCm39)	missense	probably benign	0.14
R4647:Eea1	UTSW	10	95,864,255 (GRCm39)	missense	probably benign
R4876:Eea1	UTSW	10	95,831,475 (GRCm39)	missense	probably benign	0.07
R5009:Eea1	UTSW	10	95,846,883 (GRCm39)	missense	probably benign
R5018:Eea1	UTSW	10	95,846,899 (GRCm39)	missense	probably benign
R5490:Eea1	UTSW	10	95,861,916 (GRCm39)	missense	probably benign	0.41
R5588:Eea1	UTSW	10	95,859,772 (GRCm39)	missense	probably benign	0.01
R5791:Eea1	UTSW	10	95,855,857 (GRCm39)	missense	probably benign	0.24
R5799:Eea1	UTSW	10	95,838,810 (GRCm39)	missense	possibly damaging	0.81
R5842:Eea1	UTSW	10	95,853,986 (GRCm39)	missense	probably damaging	1.00
R6332:Eea1	UTSW	10	95,877,335 (GRCm39)	missense	possibly damaging	0.79
R6376:Eea1	UTSW	10	95,874,660 (GRCm39)	missense	probably benign	0.01
R6468:Eea1	UTSW	10	95,864,274 (GRCm39)	missense	probably benign	0.14
R6740:Eea1	UTSW	10	95,859,855 (GRCm39)	missense	probably benign
R6889:Eea1	UTSW	10	95,873,340 (GRCm39)	missense	probably benign	0.14
R6904:Eea1	UTSW	10	95,838,741 (GRCm39)	splice site	probably null
R7269:Eea1	UTSW	10	95,854,000 (GRCm39)	missense	probably damaging	1.00
R7273:Eea1	UTSW	10	95,825,493 (GRCm39)	missense	probably benign	0.00
R7398:Eea1	UTSW	10	95,831,493 (GRCm39)	missense	probably benign
R7400:Eea1	UTSW	10	95,831,432 (GRCm39)	missense	probably benign	0.02
R7537:Eea1	UTSW	10	95,830,767 (GRCm39)	nonsense	probably null
R7687:Eea1	UTSW	10	95,862,460 (GRCm39)	missense	probably benign
R7762:Eea1	UTSW	10	95,864,301 (GRCm39)	missense	probably benign	0.10
R8097:Eea1	UTSW	10	95,862,516 (GRCm39)	missense	probably benign	0.01
R8114:Eea1	UTSW	10	95,830,851 (GRCm39)	nonsense	probably null
R8803:Eea1	UTSW	10	95,859,853 (GRCm39)	missense	probably benign	0.13
R8853:Eea1	UTSW	10	95,857,517 (GRCm39)	missense
R8856:Eea1	UTSW	10	95,831,506 (GRCm39)	missense	probably benign	0.04
R8901:Eea1	UTSW	10	95,825,431 (GRCm39)	missense	probably damaging	1.00
R8907:Eea1	UTSW	10	95,826,274 (GRCm39)	missense	probably damaging	1.00
R8944:Eea1	UTSW	10	95,832,822 (GRCm39)	missense	probably damaging	1.00
R8960:Eea1	UTSW	10	95,864,381 (GRCm39)	missense	probably benign	0.00
R8966:Eea1	UTSW	10	95,832,901 (GRCm39)	missense	probably damaging	0.96
R8983:Eea1	UTSW	10	95,855,741 (GRCm39)	nonsense	probably null
R9069:Eea1	UTSW	10	95,831,510 (GRCm39)	missense	probably damaging	0.99
R9240:Eea1	UTSW	10	95,776,824 (GRCm39)	missense	probably benign	0.00
R9287:Eea1	UTSW	10	95,831,445 (GRCm39)	missense	probably damaging	1.00
R9661:Eea1	UTSW	10	95,862,742 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2014-05-23