Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Eapp'

177275

Institutional Source

Beutler Lab

Gene Symbol

Eapp

Ensembl Gene

ENSMUSG00000054302

Gene Name

E2F-associated phosphoprotein

Synonyms

1810011O16Rik, EAPP

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54670340-54695897 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 54685948 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 126 (Q126*)

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: Q126*

SMART Domains

Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: Q126*

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: Q126*

SMART Domains

Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: Q126*

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: Q122*

SMART Domains

Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: Q122*

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: Q126*

SMART Domains

Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: Q126*

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

0.9754

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,882,681 (GRCm38)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,226,831 (GRCm38)		probably null	Het
Ankar	A	G	1: 72,679,555 (GRCm38)		probably benign	Het
Aplf	A	T	6: 87,646,033 (GRCm38)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,389,389 (GRCm38)		probably benign	Het
Catsperb	T	C	12: 101,463,114 (GRCm38)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 115,013,777 (GRCm38)	D88G	probably benign	Het
Cebpz	T	C	17: 78,934,752 (GRCm38)	N491S	probably damaging	Het
Crybg2	T	C	4: 134,081,459 (GRCm38)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,829,131 (GRCm38)	V331A	probably benign	Het
Decr2	T	C	17: 26,083,024 (GRCm38)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,823,117 (GRCm38)	M136T	probably damaging	Het
Fam111a	T	A	19: 12,587,778 (GRCm38)	V297D	probably damaging	Het
Fam84a	G	A	12: 14,150,408 (GRCm38)	A106V	probably benign	Het
Fbxo10	A	C	4: 45,062,118 (GRCm38)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,291,374 (GRCm38)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,591,810 (GRCm38)		probably null	Het
Gm10392	T	A	11: 77,517,481 (GRCm38)	D104V	probably benign	Het
Gm960	T	A	19: 4,652,171 (GRCm38)	K282N	probably damaging	Het
Gpn1	A	G	5: 31,497,338 (GRCm38)	E78G	possibly damaging	Het
Hhip	T	C	8: 79,990,276 (GRCm38)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,356,750 (GRCm38)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,703,765 (GRCm38)		probably benign	Het
Klhl21	T	C	4: 152,009,624 (GRCm38)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,243,478 (GRCm38)		probably null	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Magi2	T	C	5: 19,227,332 (GRCm38)	V15A	probably benign	Het
Map2k7	T	C	8: 4,243,621 (GRCm38)		probably null	Het
Mga	T	A	2: 119,963,960 (GRCm38)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,450,223 (GRCm38)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,875,586 (GRCm38)	D230E	probably benign	Het
Nacad	T	A	11: 6,601,185 (GRCm38)	T669S	probably benign	Het
Nin	C	T	12: 70,031,738 (GRCm38)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,382,237 (GRCm38)	A203T	probably damaging	Het
Olfr1204	T	G	2: 88,852,262 (GRCm38)	F104C	probably damaging	Het
Olfr1301	A	T	2: 111,754,425 (GRCm38)	M59L	probably damaging	Het
Olfr1495	A	T	19: 13,768,510 (GRCm38)	H56L	probably benign	Het
Olfr201	A	G	16: 59,269,031 (GRCm38)	V212A	probably benign	Het
Olfr433	T	C	1: 174,042,480 (GRCm38)	F177L	probably benign	Het
Olfr729	C	A	14: 50,148,774 (GRCm38)	M33I	probably benign	Het
Osbp	C	A	19: 11,977,829 (GRCm38)	Q282K	probably benign	Het
Osbpl2	A	G	2: 180,148,463 (GRCm38)	S177G	probably damaging	Het
Pax1	A	G	2: 147,366,255 (GRCm38)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,886,727 (GRCm38)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,117,825 (GRCm38)	S3420P	probably benign	Het
Prss3	A	C	6: 41,377,627 (GRCm38)		probably benign	Het
Ptk2b	T	C	14: 66,163,114 (GRCm38)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,673,239 (GRCm38)	V126A	probably damaging	Het
Rai14	A	C	15: 10,587,916 (GRCm38)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,954,524 (GRCm38)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,483,327 (GRCm38)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,527,667 (GRCm38)		noncoding transcript	Het
Scrn1	A	T	6: 54,520,769 (GRCm38)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 125,421,895 (GRCm38)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,600,962 (GRCm38)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,213,617 (GRCm38)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,980,426 (GRCm38)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,700,230 (GRCm38)	R260*	probably null	Het
Tenm3	T	C	8: 48,279,074 (GRCm38)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,987,530 (GRCm38)	G116A	probably damaging	Het
Tial1	A	G	7: 128,443,910 (GRCm38)	Y317H	probably damaging	Het
Trim66	A	T	7: 109,455,080 (GRCm38)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,783,545 (GRCm38)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,618,291 (GRCm38)	S31T	possibly damaging	Het

Other mutations in Eapp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Eapp	APN	12	54,692,808 (GRCm38)	missense	possibly damaging	0.78
IGL01964:Eapp	APN	12	54,685,935 (GRCm38)	missense	probably damaging	0.99
IGL02591:Eapp	APN	12	54,692,822 (GRCm38)	missense	probably damaging	1.00
IGL03323:Eapp	APN	12	54,673,615 (GRCm38)	missense	probably damaging	1.00
IGL03328:Eapp	APN	12	54,692,093 (GRCm38)	missense	probably benign	0.04
R0599:Eapp	UTSW	12	54,685,962 (GRCm38)	missense	probably damaging	1.00
R0939:Eapp	UTSW	12	54,685,949 (GRCm38)	small deletion	probably benign
R1646:Eapp	UTSW	12	54,685,960 (GRCm38)	nonsense	probably null
R1935:Eapp	UTSW	12	54,673,728 (GRCm38)	missense	probably benign	0.01
R1936:Eapp	UTSW	12	54,673,728 (GRCm38)	missense	probably benign	0.01
R5303:Eapp	UTSW	12	54,692,918 (GRCm38)	missense	probably damaging	1.00
R5537:Eapp	UTSW	12	54,692,059 (GRCm38)	missense	probably benign	0.22
R7638:Eapp	UTSW	12	54,673,723 (GRCm38)	missense	probably benign	0.02
R8041:Eapp	UTSW	12	54,692,865 (GRCm38)	missense	probably damaging	1.00
R8911:Eapp	UTSW	12	54,692,655 (GRCm38)	intron	probably benign
R9294:Eapp	UTSW	12	54,690,276 (GRCm38)	missense	unknown
R9733:Eapp	UTSW	12	54,692,956 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2014-04-24