Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:E2f6'

92577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E2f6

Ensembl Gene

ENSMUSG00000057469

Gene Name

E2F transcription factor 6

Synonyms

EMA

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.605) question?

Stock #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

16860932-16876753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16875369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000020908 (fasta)

Gene Model

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

AlphaFold

O54917

Predicted Effect

probably benign
Transcript: ENSMUST00000020908
AA Change: D268G

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020908
Gene: ENSMUSG00000057469
AA Change: D268G

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

noncoding transcript
Transcript: ENSMUST00000220707

Predicted Effect

probably benign
Transcript: ENSMUST00000220794

Predicted Effect

probably benign
Transcript: ENSMUST00000221541

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221600

Predicted Effect

probably benign
Transcript: ENSMUST00000221934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222582

Coding Region Coverage

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,726 (GRCm39)	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 89,971,809 (GRCm39)	M56K	possibly damaging	Het
Abca6	A	G	11: 110,075,534 (GRCm39)	L1319S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aloxe3	A	G	11: 69,020,839 (GRCm39)	N188S	probably benign	Het
Ap1s1	G	A	5: 137,070,658 (GRCm39)	R119*	probably null	Het
Apc2	T	G	10: 80,142,035 (GRCm39)	L318R	probably damaging	Het
Atg101	A	G	15: 101,184,976 (GRCm39)	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,253,317 (GRCm39)		probably benign	Het
Bpifb9b	C	A	2: 154,158,871 (GRCm39)		probably null	Het
Braf	A	T	6: 39,623,787 (GRCm39)		probably benign	Het
Cabp5	A	G	7: 13,135,189 (GRCm39)	D43G	probably damaging	Het
Cfap46	T	C	7: 139,186,523 (GRCm39)	N2462S	unknown	Het
Cit	C	T	5: 116,130,662 (GRCm39)		probably benign	Het
Cpa4	T	C	6: 30,574,415 (GRCm39)	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,517,791 (GRCm39)	I474V	probably benign	Het
Dennd1a	C	A	2: 37,734,821 (GRCm39)	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,198,289 (GRCm39)	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,813,893 (GRCm39)	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897 (GRCm39)		probably null	Het
Evi2b	T	A	11: 79,407,126 (GRCm39)	T150S	probably damaging	Het
F13b	A	G	1: 139,431,589 (GRCm39)	D53G	probably benign	Het
Fbxo38	G	A	18: 62,655,595 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,950,470 (GRCm38)	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Gm21759	A	G	5: 8,229,775 (GRCm39)		probably benign	Het
Gtse1	A	G	15: 85,759,283 (GRCm39)	N597S	probably benign	Het
Hcn3	G	T	3: 89,055,030 (GRCm39)	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,263,612 (GRCm39)	N107I	probably damaging	Het
Inava	C	A	1: 136,147,513 (GRCm39)	A402S	probably damaging	Het
Iqub	T	C	6: 24,446,211 (GRCm39)	K738E	probably benign	Het
Itga6	A	T	2: 71,656,000 (GRCm39)	D308V	probably benign	Het
Klf12	T	C	14: 100,260,585 (GRCm39)	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,186,384 (GRCm39)	*351Q	probably null	Het
Krt40	A	T	11: 99,433,694 (GRCm39)	N97K	probably damaging	Het
Lrit1	A	C	14: 36,782,112 (GRCm39)	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,560,910 (GRCm39)	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 131,981,881 (GRCm39)	S149P	probably benign	Het
Minar2	A	G	18: 59,195,458 (GRCm39)	M1V	probably null	Het
Mipep	A	G	14: 61,033,614 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,962,641 (GRCm39)		probably benign	Het
N4bp2	A	T	5: 65,948,267 (GRCm39)	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221 (GRCm39)	P190S	probably benign	Het
Nos1	T	A	5: 118,083,949 (GRCm39)	I1253N	probably damaging	Het
Nup210	G	T	6: 91,007,099 (GRCm39)	F572L	probably damaging	Het
Or10k2	T	C	8: 84,268,247 (GRCm39)	V158A	probably benign	Het
Or1e30	T	C	11: 73,678,103 (GRCm39)	F113S	probably damaging	Het
Or2y11	T	C	11: 49,442,964 (GRCm39)	L130P	probably damaging	Het
P4htm	T	A	9: 108,460,935 (GRCm39)	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,637,860 (GRCm39)	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,514,490 (GRCm39)	E240G	probably benign	Het
Pex5l	T	C	3: 33,069,110 (GRCm39)		probably null	Het
Plcd1	T	C	9: 118,905,246 (GRCm39)	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,349,062 (GRCm39)	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,801,526 (GRCm39)	Q386L	possibly damaging	Het
Pramel25	T	C	4: 143,520,502 (GRCm39)	F85L	probably benign	Het
Prpf40b	A	G	15: 99,207,926 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,233,187 (GRCm39)		probably null	Het
Ripor3	A	T	2: 167,839,172 (GRCm39)	S110T	probably damaging	Het
Sec24d	G	A	3: 123,087,807 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,615,131 (GRCm39)	S165G	probably benign	Het
Shank1	C	T	7: 43,991,889 (GRCm39)	A698V	unknown	Het
Shank1	T	C	7: 44,001,023 (GRCm39)	M914T	unknown	Het
Slc22a3	T	C	17: 12,677,379 (GRCm39)	Q263R	probably benign	Het
Smc1a	C	A	X: 150,819,125 (GRCm39)	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,736,873 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,331,498 (GRCm39)	T484K	probably damaging	Het
Ubr4	G	T	4: 139,168,094 (GRCm39)	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,192,806 (GRCm39)	M163I	probably benign	Het
Zfp69	T	A	4: 120,788,697 (GRCm39)	K206M	probably damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	probably damaging	Het

Other mutations in E2f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7794:E2f6	UTSW	12	16,870,370 (GRCm39)	missense	possibly damaging	0.87
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

Posted On

2013-12-09