Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02074:Eea1'

185947

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, A430109M19Rik, B230358H09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

IGL02074

Quality Score

Status

Chromosome

Chromosomal Location

95776525-95881380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95873349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1137 (E1137G)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably damaging
Transcript: ENSMUST00000053484
AA Change: E1137G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: E1137G

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,184,176 (GRCm39)	S974G	probably benign	Het
Abi2	T	C	1: 60,486,466 (GRCm39)	V209A	probably damaging	Het
Ankrd33b	C	A	15: 31,297,807 (GRCm39)	V317F	probably damaging	Het
Arcn1	A	G	9: 44,670,309 (GRCm39)	C106R	probably benign	Het
Arhgap35	T	C	7: 16,296,980 (GRCm39)	H695R	probably benign	Het
Bag4	G	T	8: 26,259,383 (GRCm39)	T272K	possibly damaging	Het
Cnot6	T	C	11: 49,580,070 (GRCm39)	H74R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dab1	C	A	4: 104,585,051 (GRCm39)	A397D	possibly damaging	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dixdc1	C	T	9: 50,613,317 (GRCm39)	V212M	probably benign	Het
Dnaaf11	T	C	15: 66,361,339 (GRCm39)	N54S	probably damaging	Het
Ercc8	T	C	13: 108,295,318 (GRCm39)		probably benign	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Fgd6	A	T	10: 93,963,297 (GRCm39)	I1132F	probably damaging	Het
Grin1	C	T	2: 25,188,514 (GRCm39)	V432I	possibly damaging	Het
Herc1	A	G	9: 66,358,265 (GRCm39)	S2449G	probably benign	Het
Herc2	T	A	7: 55,737,192 (GRCm39)		probably benign	Het
L1cam	A	G	X: 72,906,619 (GRCm39)	W275R	probably damaging	Het
Magi1	A	G	6: 93,722,579 (GRCm39)	V660A	probably damaging	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Mtcl1	T	C	17: 66,673,463 (GRCm39)	D633G	possibly damaging	Het
Nexmif	A	T	X: 103,131,497 (GRCm39)	M140K	probably damaging	Het
Or55b3	G	T	7: 102,126,679 (GRCm39)	H133N	probably benign	Het
Or7g33	A	T	9: 19,449,148 (GRCm39)	I26N	possibly damaging	Het
Or8d23	A	T	9: 38,841,979 (GRCm39)	T171S	probably benign	Het
R3hdm1	A	G	1: 128,096,775 (GRCm39)	T146A	possibly damaging	Het
Rnf123	A	T	9: 107,944,088 (GRCm39)	L508Q	probably damaging	Het
Scaf4	G	T	16: 90,039,808 (GRCm39)	P812T	unknown	Het
Slc45a2	A	G	15: 11,000,903 (GRCm39)	M1V	probably null	Het
Ttr	T	C	18: 20,799,580 (GRCm39)	V46A	probably benign	Het
Ubxn8	T	C	8: 34,113,206 (GRCm39)	K216R	possibly damaging	Het
Vmn2r109	T	C	17: 20,774,603 (GRCm39)	I251V	probably benign	Het
Xlr	A	T	X: 52,798,101 (GRCm39)		probably benign	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	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
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
R1344:Eea1	UTSW	10	95,830,861 (GRCm39)	critical splice donor site	probably null
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

Posted On

2014-05-07