Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01531:Eea1'

89771

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?

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

Stock #

IGL01531

Quality Score

Status

Chromosome

Chromosomal Location

95776525-95881380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95867539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1045 (T1045K)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably damaging
Transcript: ENSMUST00000053484
AA Change: T1045K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: T1045K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,494 (GRCm39)		probably null	Het
Abtb3	T	C	10: 85,465,069 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,119,414 (GRCm39)	V1019A	possibly damaging	Het
Blm	A	G	7: 80,123,819 (GRCm39)	Y1004H	probably damaging	Het
Cachd1	A	C	4: 100,810,231 (GRCm39)	I278L	probably benign	Het
Ddx18	T	A	1: 121,492,315 (GRCm39)	T131S	probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dlgap1	A	G	17: 70,823,374 (GRCm39)	T120A	probably damaging	Het
Dnaja3	T	G	16: 4,512,268 (GRCm39)	V224G	probably damaging	Het
Dntt	A	T	19: 41,041,677 (GRCm39)	R454*	probably null	Het
Dync2h1	T	A	9: 7,071,111 (GRCm39)	T3083S	probably benign	Het
Gpnmb	T	A	6: 49,024,392 (GRCm39)		probably benign	Het
Hirip3	A	G	7: 126,462,548 (GRCm39)	E108G	possibly damaging	Het
Il33	C	A	19: 29,929,381 (GRCm39)	Q35K	possibly damaging	Het
Il6ra	G	A	3: 89,793,350 (GRCm39)	L267F	probably damaging	Het
Impact	C	T	18: 13,109,076 (GRCm39)	S69F	probably benign	Het
Klk1b9	G	A	7: 43,441,675 (GRCm39)	G39D	probably damaging	Het
Ldah	A	G	12: 8,277,337 (GRCm39)	D91G	probably benign	Het
Lrp4	T	C	2: 91,341,898 (GRCm39)	L1837P	probably damaging	Het
Mov10l1	T	A	15: 88,938,555 (GRCm39)	H1204Q	probably damaging	Het
Nlrp4c	A	G	7: 6,063,655 (GRCm39)	E21G	probably damaging	Het
Or12k8	T	C	2: 36,975,407 (GRCm39)	M118V	possibly damaging	Het
Or52ae9	T	A	7: 103,390,321 (GRCm39)	N42I	probably damaging	Het
Osbpl1a	T	G	18: 13,066,638 (GRCm39)	K40N	probably damaging	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Rp1	A	G	1: 4,419,168 (GRCm39)	V648A	probably benign	Het
Scn9a	T	C	2: 66,367,722 (GRCm39)	K654E	probably benign	Het
Sema3d	A	G	5: 12,591,047 (GRCm39)	I309V	probably benign	Het
Slc6a2	T	C	8: 93,722,310 (GRCm39)	L519P	probably damaging	Het
Stard9	A	G	2: 120,504,085 (GRCm39)	I211V	possibly damaging	Het
Stau2	T	C	1: 16,415,922 (GRCm39)	*480W	probably null	Het
Svopl	T	C	6: 38,003,876 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Zan	G	A	5: 137,422,874 (GRCm39)	T2713I	unknown	Het

Other mutations in Eea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-03