Mutagenetix > Incidental Mutation

Incidental Mutation 'R8911:Eapp'

716041

Institutional Source

Beutler Lab

Gene Symbol

Eapp

Ensembl Gene

ENSMUSG00000054302

Gene Name

E2F-associated phosphoprotein

Synonyms

1810011O16Rik, EAPP

MMRRC Submission

068764-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R8911 (G1)

Quality Score

146.008

Status

Validated

Chromosome

Chromosomal Location

54717125-54742682 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 54739440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000110713

SMART Domains

Protein: ENSMUSP00000106341
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
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 benign
Transcript: ENSMUST00000161592

SMART Domains

Protein: ENSMUSP00000123698
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
low complexity region	116	125	N/A	INTRINSIC
Pfam:Eapp_C	136	279	5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162106

SMART Domains

Protein: ENSMUSP00000124232
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	112	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163433

SMART Domains

Protein: ENSMUSP00000130251
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
low complexity region	116	125	N/A	INTRINSIC
Pfam:Eapp_C	136	279	5.8e-52	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
3425401B19Rik	A	T	14: 32,383,626 (GRCm39)	C780S	possibly damaging	Het
Abca12	T	C	1: 71,380,690 (GRCm39)	D306G	probably benign	Het
Adgrl2	T	C	3: 148,558,163 (GRCm39)		probably benign	Het
Agt	T	C	8: 125,291,184 (GRCm39)	Y41C	probably benign	Het
Alx3	G	T	3: 107,511,603 (GRCm39)	R204L	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bcl11a	C	T	11: 24,114,763 (GRCm39)	P702L	probably damaging	Het
Bpifa2	A	G	2: 153,851,090 (GRCm39)	N17S	probably benign	Het
Cabcoco1	T	C	10: 68,377,584 (GRCm39)	D35G	probably benign	Het
Cd69	T	C	6: 129,252,187 (GRCm39)	K21R	probably benign	Het
Cdhr18	T	C	14: 13,823,796 (GRCm38)		probably null	Het
Cntn4	T	C	6: 106,330,743 (GRCm39)		probably null	Het
Cntnap5c	A	C	17: 58,506,043 (GRCm39)	N689T	probably damaging	Het
Cog5	A	G	12: 31,883,238 (GRCm39)	Y389C	probably damaging	Het
Col5a1	T	C	2: 27,887,630 (GRCm39)		probably null	Het
Coro1b	G	A	19: 4,200,803 (GRCm39)	R245Q	probably damaging	Het
Csmd1	T	C	8: 16,748,019 (GRCm39)	D244G	probably damaging	Het
Ctcfl	C	T	2: 172,937,121 (GRCm39)		probably null	Het
Dpy19l4	G	A	4: 11,317,078 (GRCm39)	P40L	possibly damaging	Het
Dsg4	C	A	18: 20,584,929 (GRCm39)	Y214*	probably null	Het
Fmo6	T	C	1: 162,748,114 (GRCm39)	T317A	possibly damaging	Het
Gm11595	A	G	11: 99,663,564 (GRCm39)	C39R	unknown	Het
Golim4	T	C	3: 75,813,703 (GRCm39)		probably benign	Het
Greb1	G	A	12: 16,740,903 (GRCm39)	S1393L	possibly damaging	Het
Guca1b	A	G	17: 47,700,044 (GRCm39)	I73V	probably benign	Het
Hdac7	C	T	15: 97,694,789 (GRCm39)	V796I	possibly damaging	Het
Hectd1	A	G	12: 51,795,616 (GRCm39)	I2271T	probably damaging	Het
Heg1	T	G	16: 33,558,627 (GRCm39)	Y1066*	probably null	Het
Helz2	C	A	2: 180,880,173 (GRCm39)	K514N		Het
Ice1	C	T	13: 70,740,787 (GRCm39)	R70Q		Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itgae	A	G	11: 73,004,447 (GRCm39)	T245A	probably damaging	Het
Jhy	G	A	9: 40,822,453 (GRCm39)	Q562*	probably null	Het
Khnyn	A	G	14: 56,124,735 (GRCm39)	R330G	probably benign	Het
Lamc2	A	T	1: 153,027,873 (GRCm39)	C184S	probably damaging	Het
Lhx5	T	A	5: 120,574,509 (GRCm39)	L271*	probably null	Het
Magel2	G	A	7: 62,029,537 (GRCm39)	V814M	unknown	Het
Manf	A	G	9: 106,767,461 (GRCm39)	I85T	possibly damaging	Het
Mgmt	A	G	7: 136,729,794 (GRCm39)	T203A	probably benign	Het
Mmp9	C	T	2: 164,794,568 (GRCm39)	S520F	possibly damaging	Het
Myrip	A	G	9: 120,270,484 (GRCm39)	E578G	possibly damaging	Het
Naaladl2	A	G	3: 23,900,757 (GRCm39)	M691T	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c112	T	C	2: 88,854,294 (GRCm39)	N18D	probably benign	Het
Or4c117	T	C	2: 88,955,608 (GRCm39)	I156V	probably benign	Het
Pcdhga12	A	T	18: 37,900,118 (GRCm39)	M317L	possibly damaging	Het
Pcnt	T	G	10: 76,223,359 (GRCm39)	K1941T	probably damaging	Het
Pde4dip	A	T	3: 97,650,917 (GRCm39)	M896K	probably benign	Het
Pfkfb3	A	T	2: 11,487,254 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,946,201 (GRCm39)	S542P	probably benign	Het
Pik3cg	A	G	12: 32,247,257 (GRCm39)	V822A	probably benign	Het
Plcl2	G	T	17: 50,915,141 (GRCm39)	G717C	probably damaging	Het
Ptprs	C	T	17: 56,730,320 (GRCm39)	A1185T	probably benign	Het
Ptpru	T	A	4: 131,503,560 (GRCm39)	I1157F	probably damaging	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,812 (GRCm39)	E270G	probably damaging	Het
Rrp15	C	T	1: 186,453,641 (GRCm39)	E269K	unknown	Het
Sec23b	T	C	2: 144,401,316 (GRCm39)	V59A	probably benign	Het
Slc22a21	A	T	11: 53,846,809 (GRCm39)		probably null	Het
Sp5	C	A	2: 70,306,962 (GRCm39)	P216T	probably benign	Het
Synj1	A	T	16: 90,775,622 (GRCm39)	D385E	probably damaging	Het
Trim37	C	T	11: 87,097,629 (GRCm39)	S808F	possibly damaging	Het
Tsks	A	T	7: 44,592,694 (GRCm39)		probably benign	Het
Upf1	A	T	8: 70,791,087 (GRCm39)	S563T	possibly damaging	Het
Upf2	A	G	2: 5,987,893 (GRCm39)	D580G	unknown	Het
Usp14	A	G	18: 9,996,194 (GRCm39)	I462T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r184	C	G	7: 25,966,310 (GRCm39)	Q19E	possibly damaging	Het
Vps50	C	A	6: 3,516,710 (GRCm39)	A64E	probably benign	Het
Zc3h11a	T	A	1: 133,566,339 (GRCm39)	N211I	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp729a	A	T	13: 67,768,061 (GRCm39)	S723T	probably benign	Het
Zmynd12	A	T	4: 119,294,286 (GRCm39)	I88F	probably damaging	Het

Other mutations in Eapp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Eapp	APN	12	54,739,593 (GRCm39)	missense	possibly damaging	0.78
IGL01964:Eapp	APN	12	54,732,720 (GRCm39)	missense	probably damaging	0.99
IGL02591:Eapp	APN	12	54,739,607 (GRCm39)	missense	probably damaging	1.00
IGL03323:Eapp	APN	12	54,720,400 (GRCm39)	missense	probably damaging	1.00
IGL03328:Eapp	APN	12	54,738,878 (GRCm39)	missense	probably benign	0.04
R0599:Eapp	UTSW	12	54,732,747 (GRCm39)	missense	probably damaging	1.00
R0939:Eapp	UTSW	12	54,732,734 (GRCm39)	small deletion	probably benign
R1583:Eapp	UTSW	12	54,732,733 (GRCm39)	nonsense	probably null
R1646:Eapp	UTSW	12	54,732,745 (GRCm39)	nonsense	probably null
R1935:Eapp	UTSW	12	54,720,513 (GRCm39)	missense	probably benign	0.01
R1936:Eapp	UTSW	12	54,720,513 (GRCm39)	missense	probably benign	0.01
R5303:Eapp	UTSW	12	54,739,703 (GRCm39)	missense	probably damaging	1.00
R5537:Eapp	UTSW	12	54,738,844 (GRCm39)	missense	probably benign	0.22
R7638:Eapp	UTSW	12	54,720,508 (GRCm39)	missense	probably benign	0.02
R8041:Eapp	UTSW	12	54,739,650 (GRCm39)	missense	probably damaging	1.00
R9294:Eapp	UTSW	12	54,737,061 (GRCm39)	missense	unknown
R9733:Eapp	UTSW	12	54,739,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCCTCATTTAGTAAGTGCTG -3'
(R):5'- GGCTGAACTAAACTCCACCATG -3'

Sequencing Primer
(F):5'- GTTAGTCAGACCCATTGCTGCAG -3'
(R):5'- CTCCACCATGAAGACAATGGAGG -3'

Posted On

2022-07-01