Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Eea1'

376897

Institutional Source

Beutler Lab

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, B230358H09Rik, A430109M19Rik

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95995613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 189 (A189S)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably benign
Transcript: ENSMUST00000053484
AA Change: A189S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: A189S

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

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,537,577 (GRCm38)	R100H	probably damaging	Het
4930562C15Rik	T	C	16: 4,849,672 (GRCm38)	F309S	unknown	Het
9530053A07Rik	A	T	7: 28,142,800 (GRCm38)		probably benign	Het
A630001G21Rik	C	T	1: 85,719,040 (GRCm38)	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm38)	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835 (GRCm38)	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747 (GRCm38)	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239 (GRCm38)	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379 (GRCm38)	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160 (GRCm38)		probably benign	Het
BC052040	A	C	2: 115,670,058 (GRCm38)	H159P	probably damaging	Het
Bicral	A	T	17: 46,825,576 (GRCm38)	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769 (GRCm38)	V30A	probably benign	Het
Cap2	A	G	13: 46,531,021 (GRCm38)	M1V	probably null	Het
Ccdc153	T	C	9: 44,241,008 (GRCm38)	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337 (GRCm38)	V489D	probably damaging	Het
Cntnap3	T	C	13: 64,787,706 (GRCm38)	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,815 (GRCm38)	D371N	probably benign	Het
Csl	T	A	10: 99,758,540 (GRCm38)	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436 (GRCm38)		probably benign	Het
Dennd4a	T	A	9: 64,896,590 (GRCm38)	N1070K	probably benign	Het
Dmwd	A	T	7: 19,080,547 (GRCm38)	D374V	probably damaging	Het
Fasn	A	G	11: 120,812,312 (GRCm38)	V1629A	probably damaging	Het
Fndc1	T	C	17: 7,771,639 (GRCm38)	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858 (GRCm38)	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665 (GRCm38)	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669 (GRCm38)	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509 (GRCm38)	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534 (GRCm38)	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644 (GRCm38)	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267 (GRCm38)		probably null	Het
Il16	A	C	7: 83,673,094 (GRCm38)	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906 (GRCm38)	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470 (GRCm38)	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927 (GRCm38)	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279 (GRCm38)	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440 (GRCm38)	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113 (GRCm38)	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325 (GRCm38)	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068 (GRCm38)	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836 (GRCm38)		probably benign	Het
Mybpc1	T	C	10: 88,522,991 (GRCm38)	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424 (GRCm38)	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410 (GRCm38)	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346 (GRCm38)	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491 (GRCm38)	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134 (GRCm38)	S921T	possibly damaging	Het
Olfr268-ps1	C	G	2: 111,844,695 (GRCm38)		noncoding transcript	Het
Olfr934	A	T	9: 38,982,626 (GRCm38)	C139*	probably null	Het
Olfr985	C	T	9: 40,127,218 (GRCm38)	V248I	probably damaging	Het
Omp	A	T	7: 98,145,026 (GRCm38)	D131E	probably benign	Het
Pard3	T	C	8: 127,561,469 (GRCm38)		probably benign	Het
Parg	A	G	14: 32,271,668 (GRCm38)	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035 (GRCm38)	M1K	probably null	Het
Pclo	T	A	5: 14,811,680 (GRCm38)	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108 (GRCm38)	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494 (GRCm38)	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804 (GRCm38)	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465 (GRCm38)	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318 (GRCm38)	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775 (GRCm38)	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405 (GRCm38)	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200 (GRCm38)	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706 (GRCm38)	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919 (GRCm38)	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128 (GRCm38)	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361 (GRCm38)		probably null	Het
Sephs2	A	T	7: 127,273,047 (GRCm38)	Y291*	probably null	Het
Slc45a3	T	C	1: 131,981,547 (GRCm38)	I494T	possibly damaging	Het
Slc6a21	C	A	7: 45,280,111 (GRCm38)	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272 (GRCm38)	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018 (GRCm38)	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152 (GRCm38)	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184 (GRCm38)	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728 (GRCm38)	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270 (GRCm38)	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186 (GRCm38)	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625 (GRCm38)	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109 (GRCm38)	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539 (GRCm38)	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229 (GRCm38)	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365 (GRCm38)		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485 (GRCm38)	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248 (GRCm38)	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238 (GRCm38)	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955 (GRCm38)	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959 (GRCm38)	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858 (GRCm38)		probably benign	Het
Zfp358	T	C	8: 3,496,170 (GRCm38)	S251P	probably damaging	Het

Other mutations in Eea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Eea1	APN	10	96,031,677 (GRCm38)	missense	probably damaging	0.99
IGL01645:Eea1	APN	10	95,989,589 (GRCm38)	missense	probably damaging	1.00
IGL01646:Eea1	APN	10	95,997,015 (GRCm38)	missense	probably damaging	0.99
IGL01870:Eea1	APN	10	95,973,986 (GRCm38)	missense	probably damaging	1.00
IGL02074:Eea1	APN	10	96,037,487 (GRCm38)	missense	probably damaging	1.00
IGL02229:Eea1	APN	10	96,018,184 (GRCm38)	missense	probably damaging	1.00
IGL02885:Eea1	APN	10	96,041,484 (GRCm38)	missense	probably benign	0.04
IGL02971:Eea1	APN	10	96,041,527 (GRCm38)	missense	probably benign	0.37
IGL03223:Eea1	APN	10	96,039,611 (GRCm38)	missense	probably damaging	1.00
IGL03355:Eea1	APN	10	96,042,212 (GRCm38)	utr 3 prime	probably benign
prom	UTSW	10	95,995,570 (GRCm38)	missense	probably benign	0.02
R4876_eea1_897	UTSW	10	95,995,613 (GRCm38)	missense	probably benign	0.07
Senior	UTSW	10	96,011,037 (GRCm38)	missense	probably benign
Slump	UTSW	10	96,036,633 (GRCm38)	missense	probably benign	0.00
R0189:Eea1	UTSW	10	95,995,582 (GRCm38)	missense	possibly damaging	0.86
R0374:Eea1	UTSW	10	96,039,772 (GRCm38)	splice site	probably benign
R0655:Eea1	UTSW	10	95,995,598 (GRCm38)	missense	probably benign	0.00
R0883:Eea1	UTSW	10	96,021,667 (GRCm38)	missense	possibly damaging	0.63
R1219:Eea1	UTSW	10	96,010,761 (GRCm38)	splice site	probably benign
R1344:Eea1	UTSW	10	95,994,999 (GRCm38)	critical splice donor site	probably null
R1768:Eea1	UTSW	10	95,996,960 (GRCm38)	missense	probably damaging	1.00
R1887:Eea1	UTSW	10	96,018,211 (GRCm38)	critical splice donor site	probably null
R2224:Eea1	UTSW	10	96,020,012 (GRCm38)	missense	probably damaging	0.99
R2927:Eea1	UTSW	10	96,013,358 (GRCm38)	missense	probably benign	0.00
R3922:Eea1	UTSW	10	96,036,633 (GRCm38)	missense	probably benign	0.00
R3950:Eea1	UTSW	10	96,042,134 (GRCm38)	missense	probably damaging	1.00
R4502:Eea1	UTSW	10	96,039,565 (GRCm38)	missense	probably benign	0.14
R4647:Eea1	UTSW	10	96,028,393 (GRCm38)	missense	probably benign
R5009:Eea1	UTSW	10	96,011,021 (GRCm38)	missense	probably benign
R5018:Eea1	UTSW	10	96,011,037 (GRCm38)	missense	probably benign
R5490:Eea1	UTSW	10	96,026,054 (GRCm38)	missense	probably benign	0.41
R5588:Eea1	UTSW	10	96,023,910 (GRCm38)	missense	probably benign	0.01
R5791:Eea1	UTSW	10	96,019,995 (GRCm38)	missense	probably benign	0.24
R5799:Eea1	UTSW	10	96,002,948 (GRCm38)	missense	possibly damaging	0.81
R5842:Eea1	UTSW	10	96,018,124 (GRCm38)	missense	probably damaging	1.00
R6332:Eea1	UTSW	10	96,041,473 (GRCm38)	missense	possibly damaging	0.79
R6376:Eea1	UTSW	10	96,038,798 (GRCm38)	missense	probably benign	0.01
R6468:Eea1	UTSW	10	96,028,412 (GRCm38)	missense	probably benign	0.14
R6740:Eea1	UTSW	10	96,023,993 (GRCm38)	missense	probably benign
R6889:Eea1	UTSW	10	96,037,478 (GRCm38)	missense	probably benign	0.14
R6904:Eea1	UTSW	10	96,002,879 (GRCm38)	splice site	probably null
R7269:Eea1	UTSW	10	96,018,138 (GRCm38)	missense	probably damaging	1.00
R7273:Eea1	UTSW	10	95,989,631 (GRCm38)	missense	probably benign	0.00
R7398:Eea1	UTSW	10	95,995,631 (GRCm38)	missense	probably benign
R7400:Eea1	UTSW	10	95,995,570 (GRCm38)	missense	probably benign	0.02
R7537:Eea1	UTSW	10	95,994,905 (GRCm38)	nonsense	probably null
R7687:Eea1	UTSW	10	96,026,598 (GRCm38)	missense	probably benign
R7762:Eea1	UTSW	10	96,028,439 (GRCm38)	missense	probably benign	0.10
R8097:Eea1	UTSW	10	96,026,654 (GRCm38)	missense	probably benign	0.01
R8114:Eea1	UTSW	10	95,994,989 (GRCm38)	nonsense	probably null
R8803:Eea1	UTSW	10	96,023,991 (GRCm38)	missense	probably benign	0.13
R8853:Eea1	UTSW	10	96,021,655 (GRCm38)	missense
R8856:Eea1	UTSW	10	95,995,644 (GRCm38)	missense	probably benign	0.04
R8901:Eea1	UTSW	10	95,989,569 (GRCm38)	missense	probably damaging	1.00
R8907:Eea1	UTSW	10	95,990,412 (GRCm38)	missense	probably damaging	1.00
R8944:Eea1	UTSW	10	95,996,960 (GRCm38)	missense	probably damaging	1.00
R8960:Eea1	UTSW	10	96,028,519 (GRCm38)	missense	probably benign	0.00
R8966:Eea1	UTSW	10	95,997,039 (GRCm38)	missense	probably damaging	0.96
R8983:Eea1	UTSW	10	96,019,879 (GRCm38)	nonsense	probably null
R9069:Eea1	UTSW	10	95,995,648 (GRCm38)	missense	probably damaging	0.99
R9240:Eea1	UTSW	10	95,940,962 (GRCm38)	missense	probably benign	0.00
R9287:Eea1	UTSW	10	95,995,583 (GRCm38)	missense	probably damaging	1.00
R9661:Eea1	UTSW	10	96,026,880 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCTACTGTTGGTTGGAATTTAAC -3'
(R):5'- TGGCAAGTTCTCTATCACTTAGCC -3'

Sequencing Primer
(F):5'- CCTGCCTTCAGGGTTAATA -3'
(R):5'- AAGTTCTCTATCACTTAGCCATATGC -3'

Posted On

2016-03-17