Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Eea1'

178683

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 #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

95776525-95881380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95809848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 9 (T9A)

Ref Sequence

ENSEMBL: ENSMUSP00000151611 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably damaging
Transcript: ENSMUST00000053484
AA Change: T9A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: T9A

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 damaging
Transcript: ENSMUST00000218291
AA Change: T9A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218517
AA Change: T9A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219207

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Phlda3	A	G	1: 135,694,376 (GRCm39)	S64G	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	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
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

2014-05-07