Mutagenetix > Incidental Mutation

Incidental Mutation 'R7794:E2f6'

600138

Institutional Source

Beutler Lab

Gene Symbol

E2f6

Ensembl Gene

ENSMUSG00000057469

Gene Name

E2F transcription factor 6

Synonyms

EMA

MMRRC Submission

045850-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.628) question?

Stock #

R7794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16860932-16876753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16870370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 174 (D174G)

Ref Sequence

ENSEMBL: ENSMUSP00000020908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020908] [ENSMUST00000220794] [ENSMUST00000221541] [ENSMUST00000221934]

AlphaFold

O54917

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020908
AA Change: D174G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: D174G

Domain	Start	End	E-Value	Type
E2F_TDP	63	128	2.04e-31	SMART
Pfam:E2F_CC-MB	143	237	8.2e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220794

Predicted Effect

probably benign
Transcript: ENSMUST00000221541

Predicted Effect

probably benign
Transcript: ENSMUST00000221934

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

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 that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Both homozygous and heterozygous null mice exhibit subtle posterior transformations of the axial skeleton with incomplete penetrance. In addition to skeletal transformations, male mice homozygous for one knock-out allele display defective spermatocyte development and Leydig cell hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,117,022 (GRCm39)	M542K	possibly damaging	Het
Abcc3	T	A	11: 94,249,697 (GRCm39)	I1083F	probably benign	Het
Acsm5	A	G	7: 119,137,352 (GRCm39)		probably benign	Het
Acyp1	G	T	12: 85,335,053 (GRCm39)	A22E	probably benign	Het
Afdn	C	A	17: 14,102,695 (GRCm39)	A1090E	probably damaging	Het
Ahdc1	T	G	4: 132,791,289 (GRCm39)	D843E	possibly damaging	Het
Bahcc1	G	T	11: 120,163,507 (GRCm39)	E602*	probably null	Het
Bora	A	G	14: 99,310,080 (GRCm39)	T470A	possibly damaging	Het
Bzw1	T	A	1: 58,439,959 (GRCm39)	S166T	probably benign	Het
Car13	A	G	3: 14,719,948 (GRCm39)	H120R	probably damaging	Het
Cstf3	G	A	2: 104,420,926 (GRCm39)	⇒1	probably benign	Het
Dip2a	T	C	10: 76,112,459 (GRCm39)	N1080D	probably damaging	Het
Dis3	A	G	14: 99,336,233 (GRCm39)	L91P	probably benign	Het
Emsy	A	T	7: 98,249,931 (GRCm39)	S785R	probably benign	Het
Fbxl17	A	G	17: 63,663,806 (GRCm39)	I561T	probably damaging	Het
Gabra6	A	T	11: 42,211,868 (GRCm39)		probably null	Het
Gm47996	C	G	1: 151,086,545 (GRCm39)	P209A	possibly damaging	Het
Hcls1	A	G	16: 36,782,426 (GRCm39)	E365G	probably damaging	Het
Hoxa6	T	A	6: 52,183,548 (GRCm39)	T166S	possibly damaging	Het
Hydin	A	G	8: 111,235,715 (GRCm39)	Y1900C	probably damaging	Het
I0C0044D17Rik	T	C	4: 98,708,582 (GRCm39)		probably benign	Het
Ifitm7	T	C	16: 13,801,610 (GRCm39)	T50A	probably benign	Het
Igkv10-95	A	G	6: 68,657,811 (GRCm39)	Q109R	possibly damaging	Het
Il1rap	A	T	16: 26,541,658 (GRCm39)	H633L	probably benign	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kmt2e	G	A	5: 23,669,714 (GRCm39)	G67D	probably damaging	Het
Kpna6	T	C	4: 129,541,844 (GRCm39)	T518A	probably benign	Het
Marchf11	A	G	15: 26,409,284 (GRCm39)	I328V	probably benign	Het
Mbtps1	A	G	8: 120,265,623 (GRCm39)	I308T	probably damaging	Het
Mug1	A	T	6: 121,833,247 (GRCm39)	D284V	possibly damaging	Het
Myo16	A	G	8: 10,619,913 (GRCm39)	K1488R	unknown	Het
Myom2	G	A	8: 15,133,259 (GRCm39)	G384R	probably damaging	Het
Naa16	A	G	14: 79,614,934 (GRCm39)	Y189H	probably damaging	Het
Nav3	G	A	10: 109,524,717 (GRCm39)	A2304V	probably benign	Het
Or12e10	T	A	2: 87,640,818 (GRCm39)	V218E	probably damaging	Het
Or14c46	T	A	7: 85,918,341 (GRCm39)	I219L	probably damaging	Het
Or14j5	A	T	17: 38,161,678 (GRCm39)	Q65L	probably benign	Het
Orc5	A	T	5: 22,738,782 (GRCm39)	Y160N	possibly damaging	Het
Pan2	T	C	10: 128,152,396 (GRCm39)		probably null	Het
Pcdhb20	A	G	18: 37,637,485 (GRCm39)	R4G	probably benign	Het
Poc1b	A	G	10: 98,965,460 (GRCm39)	S130G	possibly damaging	Het
Psme2b	A	G	11: 48,836,683 (GRCm39)	V88A	probably benign	Het
Ptpn13	C	T	5: 103,640,090 (GRCm39)	T183M	probably benign	Het
Ptpn4	T	C	1: 119,653,767 (GRCm39)	E275G	probably damaging	Het
Rab21	A	T	10: 115,134,762 (GRCm39)	L119*	probably null	Het
Rep15	T	A	6: 146,934,638 (GRCm39)	I159N	probably damaging	Het
Rps6kc1	T	C	1: 190,515,825 (GRCm39)	E967G	probably benign	Het
Rptn	G	A	3: 93,303,036 (GRCm39)	R123K	probably benign	Het
Scn11a	A	T	9: 119,594,580 (GRCm39)	V1271D	probably damaging	Het
Scn5a	A	T	9: 119,358,153 (GRCm39)	I696N	probably damaging	Het
Slc25a12	T	C	2: 71,141,852 (GRCm39)	E267G	probably damaging	Het
Slc5a4b	A	T	10: 75,898,133 (GRCm39)	M527K	probably benign	Het
Spata31e4	C	G	13: 50,856,344 (GRCm39)	P661A	probably damaging	Het
Speg	T	A	1: 75,365,514 (GRCm39)	S632T	probably benign	Het
Stard9	G	A	2: 120,534,911 (GRCm39)	G3723S	probably benign	Het
Synrg	G	T	11: 83,910,400 (GRCm39)	M933I	probably benign	Het
Tmem178b	A	T	6: 40,222,551 (GRCm39)	I89F	probably damaging	Het
Tyr	C	T	7: 87,133,028 (GRCm39)		probably null	Het
Usp30	T	A	5: 114,251,033 (GRCm39)	C237*	probably null	Het
Xpo6	G	T	7: 125,760,035 (GRCm39)	T188K	probably damaging	Het
Zfp382	G	A	7: 29,831,035 (GRCm39)	S108N	possibly damaging	Het
Zfp820	A	C	17: 22,039,109 (GRCm39)	V73G	probably damaging	Het

Other mutations in E2f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:E2f6	APN	12	16,875,369 (GRCm39)	missense	probably benign	0.23
IGL01985:E2f6	APN	12	16,869,064 (GRCm39)	splice site	probably null
IGL03162:E2f6	APN	12	16,868,909 (GRCm39)	missense	probably benign	0.03
IGL03206:E2f6	APN	12	16,872,090 (GRCm39)	splice site	probably benign
BB007:E2f6	UTSW	12	16,869,058 (GRCm39)	missense	probably damaging	0.98
BB017:E2f6	UTSW	12	16,869,058 (GRCm39)	missense	probably damaging	0.98
R0437:E2f6	UTSW	12	16,866,446 (GRCm39)	missense	probably benign	0.04
R1830:E2f6	UTSW	12	16,868,884 (GRCm39)	missense	probably benign	0.00
R1898:E2f6	UTSW	12	16,874,581 (GRCm39)	missense	probably benign	0.01
R5536:E2f6	UTSW	12	16,874,685 (GRCm39)	missense	probably benign	0.34
R5564:E2f6	UTSW	12	16,874,706 (GRCm39)	missense	probably benign
R6714:E2f6	UTSW	12	16,869,003 (GRCm39)	missense	probably damaging	0.98
R7522:E2f6	UTSW	12	16,872,125 (GRCm39)	missense	probably benign
R7930:E2f6	UTSW	12	16,869,058 (GRCm39)	missense	probably damaging	0.98
Z1176:E2f6	UTSW	12	16,870,274 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- AGACATAGAGTTCTAGCAGGCCC -3'
(R):5'- GCTTCAGCTAACAAGACTGGG -3'

Sequencing Primer
(F):5'- CTGCTGGCAGCTGCTGAC -3'
(R):5'- CTTCAGCTAACAAGACTGGGTAGAAG -3'

Posted On

2019-11-26