Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Eapp'

173902

Institutional Source

Beutler Lab

Gene Symbol

Eapp

Ensembl Gene

ENSMUSG00000054302

Gene Name

E2F-associated phosphoprotein

Synonyms

1810011O16Rik, EAPP

MMRRC Submission

039682-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54670340-54695897 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 54685960 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 122 (K122*)

Ref Sequence

ENSEMBL: ENSMUSP00000130251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067272] [ENSMUST00000110713] [ENSMUST00000160085] [ENSMUST00000161592] [ENSMUST00000162106] [ENSMUST00000163433]

AlphaFold

Q5BU09

Predicted Effect

probably benign
Transcript: ENSMUST00000067272

SMART Domains

Protein: ENSMUSP00000069381
Gene: ENSMUSG00000054302

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000110713
AA Change: K122*

SMART Domains

Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: K122*

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
Pfam:Eapp_C	153	241	1.1e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160085

SMART Domains

Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161592
AA Change: K122*

SMART Domains

Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: K122*

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
Pfam:Eapp_C	136	279	5e-54	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162106
AA Change: K118*

SMART Domains

Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: K118*

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	112	121	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000163433
AA Change: K122*

SMART Domains

Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: K122*

Domain	Start	End	E-Value	Type
low complexity region	23	34	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	80	97	N/A	INTRINSIC
low complexity region	116	125	N/A	INTRINSIC
Pfam:Eapp_C	136	279	5.8e-52	PFAM

Meta Mutation Damage Score

0.9701

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	Het

Other mutations in Eapp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Eapp	APN	12	54692808	missense	possibly damaging	0.78
IGL01964:Eapp	APN	12	54685935	missense	probably damaging	0.99
IGL02591:Eapp	APN	12	54692822	missense	probably damaging	1.00
IGL03323:Eapp	APN	12	54673615	missense	probably damaging	1.00
IGL03328:Eapp	APN	12	54692093	missense	probably benign	0.04
R0599:Eapp	UTSW	12	54685962	missense	probably damaging	1.00
R0939:Eapp	UTSW	12	54685949	small deletion	probably benign
R1583:Eapp	UTSW	12	54685948	nonsense	probably null
R1935:Eapp	UTSW	12	54673728	missense	probably benign	0.01
R1936:Eapp	UTSW	12	54673728	missense	probably benign	0.01
R5303:Eapp	UTSW	12	54692918	missense	probably damaging	1.00
R5537:Eapp	UTSW	12	54692059	missense	probably benign	0.22
R7638:Eapp	UTSW	12	54673723	missense	probably benign	0.02
R8041:Eapp	UTSW	12	54692865	missense	probably damaging	1.00
R8911:Eapp	UTSW	12	54692655	intron	probably benign
R9294:Eapp	UTSW	12	54690276	missense	unknown
R9733:Eapp	UTSW	12	54692956	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGACAGACAGACGGATTAAAGACTAT -3'
(R):5'- CAAGTGCCAGGGCTGCTAAAGAAA -3'

Sequencing Primer
(F):5'- GACAGACGGATTAAAGACTATTTGAC -3'
(R):5'- tgactcactgcccctctcc -3'

Posted On

2014-04-24