Mutagenetix > Incidental Mutation

Incidental Mutation 'R5303:Eapp'

404367

Institutional Source

Beutler Lab

Gene Symbol

Eapp

Ensembl Gene

ENSMUSG00000054302

Gene Name

E2F-associated phosphoprotein

Synonyms

1810011O16Rik, EAPP

MMRRC Submission

042886-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.902) question?

Stock #

R5303 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54717125-54742682 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54739703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 38 (P38L)

Ref Sequence

ENSEMBL: ENSMUSP00000069381 (fasta)

Gene Model

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

AlphaFold

Q5BU09

Predicted Effect

probably damaging
Transcript: ENSMUST00000067272
AA Change: P38L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069381
Gene: ENSMUSG00000054302
AA Change: P38L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110713
AA Change: P38L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: P38L

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
AA Change: P38L

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: P38L

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
AA Change: P38L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: P38L

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
AA Change: P38L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: P38L

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
AA Change: P38L

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: P38L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179621

Meta Mutation Damage Score

0.0801

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (63/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,199,999 (GRCm39)	G531A	probably damaging	Het
4921504E06Rik	A	G	2: 19,521,110 (GRCm39)	Y256H	possibly damaging	Het
Abcc12	C	A	8: 87,236,415 (GRCm39)	R1133L	probably benign	Het
Acss3	T	A	10: 106,920,712 (GRCm39)	T133S	possibly damaging	Het
Adra1d	G	A	2: 131,388,169 (GRCm39)	P462L	possibly damaging	Het
Ank2	A	T	3: 126,739,453 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,290,349 (GRCm39)	R1748Q	probably damaging	Het
B3glct	C	T	5: 149,677,488 (GRCm39)		probably benign	Het
C3ar1	A	T	6: 122,826,794 (GRCm39)	S474R	probably damaging	Het
Cd1d1	A	G	3: 86,905,427 (GRCm39)	F189L	probably benign	Het
Cd46	T	C	1: 194,744,707 (GRCm39)	I344V	probably benign	Het
Chrna1	T	C	2: 73,396,618 (GRCm39)	M426V	probably benign	Het
Cinp	G	A	12: 110,843,295 (GRCm39)	T139M	probably damaging	Het
Cplane1	G	A	15: 8,290,174 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,641,329 (GRCm39)		probably benign	Het
Dnaaf6rt	G	A	1: 31,262,537 (GRCm39)	R173H	probably damaging	Het
Eif4g3	T	C	4: 137,853,873 (GRCm39)	S480P	probably benign	Het
Epb41l3	G	C	17: 69,564,444 (GRCm39)	E390Q	probably damaging	Het
Fermt1	T	C	2: 132,753,259 (GRCm39)		probably null	Het
Foxf2	T	A	13: 31,810,463 (GRCm39)	F134Y	possibly damaging	Het
Foxp2	T	A	6: 15,324,636 (GRCm39)	C95S	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gria1	A	G	11: 57,133,851 (GRCm39)	T577A	probably benign	Het
Hal	A	G	10: 93,352,227 (GRCm39)		probably benign	Het
Hdac7	C	A	15: 97,695,899 (GRCm39)	E670D	probably damaging	Het
Islr2	A	T	9: 58,115,558 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,335,663 (GRCm39)	Y2258H	probably benign	Het
Mical3	G	T	6: 120,936,941 (GRCm39)	T1195K	probably benign	Het
Myh1	T	C	11: 67,092,843 (GRCm39)	S46P	probably benign	Het
Mylk3	T	A	8: 86,077,105 (GRCm39)	I444F	probably damaging	Het
Nlrc3	A	T	16: 3,781,478 (GRCm39)	C644S	probably benign	Het
Notch1	C	T	2: 26,368,631 (GRCm39)	V553M	probably benign	Het
Or10g9	A	G	9: 39,911,884 (GRCm39)	I213T	probably damaging	Het
Or4a72	T	A	2: 89,405,345 (GRCm39)	I242F	possibly damaging	Het
Or51a43	T	C	7: 103,718,239 (GRCm39)		probably benign	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Postn	A	G	3: 54,285,018 (GRCm39)	T669A	probably damaging	Het
Ppp5c	G	T	7: 16,739,209 (GRCm39)	Q472K	probably benign	Het
Qsox1	T	C	1: 155,655,039 (GRCm39)	H708R	probably benign	Het
Rhbdl2	A	G	4: 123,704,014 (GRCm39)		probably benign	Het
Ryr1	C	T	7: 28,767,907 (GRCm39)	E2884K	probably damaging	Het
Saysd1	T	C	14: 20,133,026 (GRCm39)	T44A	probably benign	Het
Septin14	T	A	5: 129,766,712 (GRCm39)	M290L	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc38a8	C	A	8: 120,212,780 (GRCm39)	V294L	possibly damaging	Het
Spdye4b	C	T	5: 143,188,158 (GRCm39)	T217I	probably benign	Het
Sugp2	T	A	8: 70,694,827 (GRCm39)		probably benign	Het
Syne1	T	C	10: 5,370,464 (GRCm39)	T232A	probably benign	Het
Tbc1d5	A	T	17: 51,043,228 (GRCm39)	D753E	probably benign	Het
Tmed1	G	T	9: 21,421,343 (GRCm39)	Q44K	possibly damaging	Het
Ttc6	T	A	12: 57,622,606 (GRCm39)	S2T	possibly damaging	Het
Ube4b	T	C	4: 149,468,260 (GRCm39)	D172G	probably damaging	Het
Vmn1r235	C	A	17: 21,482,268 (GRCm39)	Q198K	probably benign	Het
Wdfy3	T	C	5: 102,100,849 (GRCm39)	H256R	probably damaging	Het
Zfat	A	T	15: 67,982,335 (GRCm39)	H1059Q	probably damaging	Het
Zfp758	A	G	17: 22,593,842 (GRCm39)	I77M	probably benign	Het
Zfp850	C	T	7: 27,707,838 (GRCm39)	A2T	probably damaging	Het
Zfyve1	A	T	12: 83,621,830 (GRCm39)	N188K	probably damaging	Het
Zyg11a	C	T	4: 108,041,629 (GRCm39)		probably null	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
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
R8911:Eapp	UTSW	12	54,739,440 (GRCm39)	intron	probably benign
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'- ATATCTATGAGAACTAAGCCCAAGC -3'
(R):5'- TAATAGGAGCAGCCCGACAG -3'

Sequencing Primer
(F):5'- CTGACCTGTTCCCAGTGAGGATAAC -3'
(R):5'- TAATAGTGCCACTCCCTGGG -3'

Posted On

2016-07-22