Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Eea1'

597952

Institutional Source

Beutler Lab

Gene Symbol

Eea1

Ensembl Gene

ENSMUSG00000036499

Gene Name

early endosome antigen 1

Synonyms

ZFYVE2, B230358H09Rik, A430109M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95940650-96045518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96028439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 940 (V940A)

Ref Sequence

ENSEMBL: ENSMUSP00000061493 (fasta)

Gene Model

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

AlphaFold

Q8BL66

Predicted Effect

probably benign
Transcript: ENSMUST00000053484
AA Change: V940A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000061493
Gene: ENSMUSG00000036499
AA Change: V940A

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

probably benign
Transcript: ENSMUST00000218291

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	probably benign	Het

Other mutations in Eea1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Eea1	APN	10	96031677	missense	probably damaging	0.99
IGL01645:Eea1	APN	10	95989589	missense	probably damaging	1.00
IGL01646:Eea1	APN	10	95997015	missense	probably damaging	0.99
IGL01870:Eea1	APN	10	95973986	missense	probably damaging	1.00
IGL02074:Eea1	APN	10	96037487	missense	probably damaging	1.00
IGL02229:Eea1	APN	10	96018184	missense	probably damaging	1.00
IGL02885:Eea1	APN	10	96041484	missense	probably benign	0.04
IGL02971:Eea1	APN	10	96041527	missense	probably benign	0.37
IGL03223:Eea1	APN	10	96039611	missense	probably damaging	1.00
IGL03355:Eea1	APN	10	96042212	utr 3 prime	probably benign
prom	UTSW	10	95995570	missense	probably benign	0.02
R4876_eea1_897	UTSW	10	95995613	missense	probably benign	0.07
Senior	UTSW	10	96011037	missense	probably benign
Slump	UTSW	10	96036633	missense	probably benign	0.00
R0189:Eea1	UTSW	10	95995582	missense	possibly damaging	0.86
R0374:Eea1	UTSW	10	96039772	splice site	probably benign
R0655:Eea1	UTSW	10	95995598	missense	probably benign	0.00
R0883:Eea1	UTSW	10	96021667	missense	possibly damaging	0.63
R1219:Eea1	UTSW	10	96010761	splice site	probably benign
R1344:Eea1	UTSW	10	95994999	critical splice donor site	probably null
R1768:Eea1	UTSW	10	95996960	missense	probably damaging	1.00
R1887:Eea1	UTSW	10	96018211	critical splice donor site	probably null
R2224:Eea1	UTSW	10	96020012	missense	probably damaging	0.99
R2927:Eea1	UTSW	10	96013358	missense	probably benign	0.00
R3922:Eea1	UTSW	10	96036633	missense	probably benign	0.00
R3950:Eea1	UTSW	10	96042134	missense	probably damaging	1.00
R4502:Eea1	UTSW	10	96039565	missense	probably benign	0.14
R4647:Eea1	UTSW	10	96028393	missense	probably benign
R4876:Eea1	UTSW	10	95995613	missense	probably benign	0.07
R5009:Eea1	UTSW	10	96011021	missense	probably benign
R5018:Eea1	UTSW	10	96011037	missense	probably benign
R5490:Eea1	UTSW	10	96026054	missense	probably benign	0.41
R5588:Eea1	UTSW	10	96023910	missense	probably benign	0.01
R5791:Eea1	UTSW	10	96019995	missense	probably benign	0.24
R5799:Eea1	UTSW	10	96002948	missense	possibly damaging	0.81
R5842:Eea1	UTSW	10	96018124	missense	probably damaging	1.00
R6332:Eea1	UTSW	10	96041473	missense	possibly damaging	0.79
R6376:Eea1	UTSW	10	96038798	missense	probably benign	0.01
R6468:Eea1	UTSW	10	96028412	missense	probably benign	0.14
R6740:Eea1	UTSW	10	96023993	missense	probably benign
R6889:Eea1	UTSW	10	96037478	missense	probably benign	0.14
R6904:Eea1	UTSW	10	96002879	splice site	probably null
R7269:Eea1	UTSW	10	96018138	missense	probably damaging	1.00
R7273:Eea1	UTSW	10	95989631	missense	probably benign	0.00
R7398:Eea1	UTSW	10	95995631	missense	probably benign
R7400:Eea1	UTSW	10	95995570	missense	probably benign	0.02
R7537:Eea1	UTSW	10	95994905	nonsense	probably null
R7687:Eea1	UTSW	10	96026598	missense	probably benign
R8097:Eea1	UTSW	10	96026654	missense	probably benign	0.01
R8114:Eea1	UTSW	10	95994989	nonsense	probably null
R8803:Eea1	UTSW	10	96023991	missense	probably benign	0.13
R8853:Eea1	UTSW	10	96021655	missense
R8856:Eea1	UTSW	10	95995644	missense	probably benign	0.04
R8901:Eea1	UTSW	10	95989569	missense	probably damaging	1.00
R8907:Eea1	UTSW	10	95990412	missense	probably damaging	1.00
R8944:Eea1	UTSW	10	95996960	missense	probably damaging	1.00
R8960:Eea1	UTSW	10	96028519	missense	probably benign	0.00
R8966:Eea1	UTSW	10	95997039	missense	probably damaging	0.96
R8983:Eea1	UTSW	10	96019879	nonsense	probably null
R9069:Eea1	UTSW	10	95995648	missense	probably damaging	0.99
R9240:Eea1	UTSW	10	95940962	missense	probably benign	0.00
R9287:Eea1	UTSW	10	95995583	missense	probably damaging	1.00
R9661:Eea1	UTSW	10	96026880	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGCTAGCTCATGTCACTAATTG -3'
(R):5'- GCCCACATATTTCTTTCTATAGGAG -3'

Sequencing Primer
(F):5'- GCTCATGTCACTAATTGCTACGAG -3'
(R):5'- CTCCTTGAAGCGCTTCAA -3'

Posted On

2019-11-26