Mutagenetix > Incidental Mutation

Incidental Mutation 'R0535:E2f8'

49415

Institutional Source

Beutler Lab

Gene Symbol

E2f8

Ensembl Gene

ENSMUSG00000046179

Gene Name

E2F transcription factor 8

Synonyms

4432406C08Rik

MMRRC Submission

038727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48516177-48531344 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 48521558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058745] [ENSMUST00000119223]

AlphaFold

Q58FA4

Predicted Effect

probably benign
Transcript: ENSMUST00000058745

SMART Domains

Protein: ENSMUSP00000056778
Gene: ENSMUSG00000046179

Domain	Start	End	E-Value	Type
E2F_TDP	113	182	4.25e-29	SMART
E2F_TDP	261	347	2.26e-33	SMART
low complexity region	819	832	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119223

SMART Domains

Protein: ENSMUSP00000112883
Gene: ENSMUSG00000046179

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	113	182	8.9e-24	PFAM
Pfam:E2F_TDP	261	347	3e-21	PFAM
low complexity region	819	832	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151139

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (52/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and live to old age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,019 (GRCm39)	S1069P	probably benign	Het
Acmsd	A	T	1: 127,693,680 (GRCm39)	I305L	probably benign	Het
Aco2	G	A	15: 81,797,418 (GRCm39)	E625K	possibly damaging	Het
Acox1	G	A	11: 116,065,264 (GRCm39)	T561I	possibly damaging	Het
Acox2	T	A	14: 8,256,753 (GRCm38)	T37S	probably damaging	Het
Apc	A	T	18: 34,394,125 (GRCm39)	K17M	probably damaging	Het
Cant1	T	C	11: 118,301,969 (GRCm39)	D116G	probably damaging	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Cyp51	T	C	5: 4,149,202 (GRCm39)	Q225R	probably benign	Het
Fam163b	T	C	2: 27,002,778 (GRCm39)	Y73C	probably benign	Het
Fbxw9	T	C	8: 85,791,229 (GRCm39)	C271R	probably damaging	Het
Gbp10	T	C	5: 105,368,877 (GRCm39)	N321D	possibly damaging	Het
Gle1	T	C	2: 29,847,817 (GRCm39)	F675L	probably damaging	Het
Gm6327	T	C	16: 12,578,241 (GRCm39)		noncoding transcript	Het
Gphn	T	A	12: 78,538,824 (GRCm39)	F157I	possibly damaging	Het
Gtpbp1	A	T	15: 79,591,933 (GRCm39)	T94S	probably damaging	Het
Hdac2	T	C	10: 36,869,895 (GRCm39)	F286L	probably benign	Het
Ighv3-6	A	T	12: 114,252,090 (GRCm39)		probably benign	Het
Itga2b	A	G	11: 102,348,359 (GRCm39)	V791A	possibly damaging	Het
Itgb4	A	T	11: 115,881,835 (GRCm39)	I796F	possibly damaging	Het
Kel	T	C	6: 41,667,772 (GRCm39)	K390R	probably null	Het
Krt42	C	T	11: 100,155,412 (GRCm39)	C368Y	probably damaging	Het
Lancl1	A	G	1: 67,049,065 (GRCm39)		probably benign	Het
Lipg	A	G	18: 75,087,291 (GRCm39)	Y177H	probably damaging	Het
Lnpep	T	C	17: 17,791,935 (GRCm39)	E402G	possibly damaging	Het
Ltbp2	A	G	12: 84,837,826 (GRCm39)	F1185L	probably damaging	Het
Ltbp2	A	T	12: 84,831,632 (GRCm39)	I1727N	probably damaging	Het
Mettl22	T	C	16: 8,302,210 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,875,209 (GRCm39)	E847G	possibly damaging	Het
Mug1	G	A	6: 121,828,413 (GRCm39)	G275E	probably benign	Het
Nell2	T	A	15: 95,329,488 (GRCm39)	T278S	probably benign	Het
Nomo1	T	A	7: 45,721,941 (GRCm39)	S961T	probably damaging	Het
Or5ak22	A	G	2: 85,230,439 (GRCm39)	L146P	possibly damaging	Het
Pcare	A	G	17: 72,059,434 (GRCm39)	V81A	probably benign	Het
Phf2	A	G	13: 48,967,423 (GRCm39)	Y675H	unknown	Het
Phldb2	A	G	16: 45,577,490 (GRCm39)	V1145A	probably damaging	Het
Phrf1	T	C	7: 140,839,978 (GRCm39)	S1058P	probably benign	Het
Prss3	T	C	6: 41,351,903 (GRCm39)	N120S	probably benign	Het
Reln	G	T	5: 22,256,274 (GRCm39)		probably benign	Het
Spag5	A	G	11: 78,195,554 (GRCm39)	Y287C	probably benign	Het
Syde2	G	A	3: 145,694,925 (GRCm39)		probably null	Het
Synj1	C	A	16: 90,744,975 (GRCm39)	V1190F	possibly damaging	Het
Taok1	A	T	11: 77,444,530 (GRCm39)	I515N	probably benign	Het
Tmem259	A	T	10: 79,814,429 (GRCm39)	V309E	probably damaging	Het
Tmem62	T	A	2: 120,833,077 (GRCm39)	V494E	possibly damaging	Het
Trak1	A	T	9: 121,272,778 (GRCm39)	E119V	probably null	Het
Vmn1r1	T	A	1: 181,985,516 (GRCm39)	I50L	probably benign	Het
Vps35l	T	C	7: 118,347,404 (GRCm39)	F118S	possibly damaging	Het
Xpc	C	T	6: 91,481,560 (GRCm39)	V254I	possibly damaging	Het
Zfp58	G	A	13: 67,640,201 (GRCm39)	Q97*	probably null	Het
Zscan5b	A	G	7: 6,236,911 (GRCm39)	E220G	possibly damaging	Het

Other mutations in E2f8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:E2f8	APN	7	48,517,951 (GRCm39)	missense	probably damaging	1.00
IGL01121:E2f8	APN	7	48,517,569 (GRCm39)	nonsense	probably null
IGL01351:E2f8	APN	7	48,516,899 (GRCm39)	missense	probably benign	0.00
IGL01592:E2f8	APN	7	48,517,605 (GRCm39)	missense	probably damaging	1.00
IGL01730:E2f8	APN	7	48,527,682 (GRCm39)	splice site	probably benign
IGL02708:E2f8	APN	7	48,516,982 (GRCm39)	splice site	probably null
R1356:E2f8	UTSW	7	48,530,018 (GRCm39)	splice site	probably benign
R1902:E2f8	UTSW	7	48,520,920 (GRCm39)	missense	probably benign	0.32
R1989:E2f8	UTSW	7	48,523,028 (GRCm39)	missense	probably benign	0.30
R2109:E2f8	UTSW	7	48,524,855 (GRCm39)	missense	probably damaging	1.00
R4126:E2f8	UTSW	7	48,525,355 (GRCm39)	missense	probably damaging	0.99
R4384:E2f8	UTSW	7	48,516,847 (GRCm39)	missense	possibly damaging	0.93
R4817:E2f8	UTSW	7	48,517,494 (GRCm39)	missense	probably benign
R4939:E2f8	UTSW	7	48,521,886 (GRCm39)	missense	probably benign	0.02
R4979:E2f8	UTSW	7	48,524,918 (GRCm39)	intron	probably benign
R5274:E2f8	UTSW	7	48,516,925 (GRCm39)	missense	probably damaging	0.97
R5624:E2f8	UTSW	7	48,527,709 (GRCm39)	missense	probably damaging	1.00
R5677:E2f8	UTSW	7	48,516,943 (GRCm39)	missense	probably damaging	0.99
R5940:E2f8	UTSW	7	48,520,825 (GRCm39)	missense	probably benign	0.03
R5988:E2f8	UTSW	7	48,524,743 (GRCm39)	missense	probably damaging	1.00
R6003:E2f8	UTSW	7	48,520,525 (GRCm39)	missense	probably benign
R6107:E2f8	UTSW	7	48,517,424 (GRCm39)	missense	probably benign	0.01
R6816:E2f8	UTSW	7	48,525,331 (GRCm39)	missense	possibly damaging	0.46
R7329:E2f8	UTSW	7	48,521,858 (GRCm39)	missense	probably damaging	1.00
R7343:E2f8	UTSW	7	48,517,713 (GRCm39)	missense	probably damaging	0.97
R7444:E2f8	UTSW	7	48,517,927 (GRCm39)	missense	probably damaging	0.98
R7474:E2f8	UTSW	7	48,525,508 (GRCm39)	missense	probably damaging	1.00
R7793:E2f8	UTSW	7	48,527,823 (GRCm39)	missense	probably benign	0.00
R8381:E2f8	UTSW	7	48,527,710 (GRCm39)	missense	probably damaging	1.00
R9553:E2f8	UTSW	7	48,528,394 (GRCm39)	missense	probably damaging	1.00
Z1177:E2f8	UTSW	7	48,525,294 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACTGAACCGTTTGCCAATCCCC -3'
(R):5'- TGATCGGAGGAAGATCAGTTCCGC -3'

Sequencing Primer
(F):5'- GTTTGCCAATCCCCGCATC -3'
(R):5'- GAAGATCAGTTCCGCTCCCAG -3'

Posted On

2013-06-12