Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:E4f1'

603230

Institutional Source

Beutler Lab

Gene Symbol

E4f1

Ensembl Gene

ENSMUSG00000024137

Gene Name

E4F transcription factor 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF011 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

24662752-24674366 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCG to CCGTCG at 24674160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056032] [ENSMUST00000226654] [ENSMUST00000226754] [ENSMUST00000226941]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000056032

SMART Domains

Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137

Domain	Start	End	E-Value	Type
low complexity region	6	35	N/A	INTRINSIC
ZnF_C2H2	57	82	3.95e1	SMART
low complexity region	84	99	N/A	INTRINSIC
ZnF_C2H2	193	215	1.03e-2	SMART
ZnF_C2H2	221	243	7.37e-4	SMART
ZnF_C2H2	249	269	5.62e0	SMART
low complexity region	295	311	N/A	INTRINSIC
ZnF_C2H2	433	455	5.9e-3	SMART
ZnF_C2H2	461	483	2.4e-3	SMART
ZnF_C2H2	489	511	2.49e-1	SMART
ZnF_C2H2	517	539	1.82e-3	SMART
ZnF_C2H2	545	567	1.56e-2	SMART
ZnF_C2H2	573	593	2.06e1	SMART
low complexity region	599	611	N/A	INTRINSIC
low complexity region	642	661	N/A	INTRINSIC
low complexity region	703	713	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000226941

Predicted Effect

probably benign
Transcript: ENSMUST00000228882

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the GLI-Kruppel zinc finger family. The encoded protein is likely to be multi-functional, with both adenovirus E1A-regulated transcription factor and ubiquitin E3 ligase activities, including roles in cell cycle regulation and the ubiquitination of p53. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice display early embryonic lethality with mitotic progression failure and increased apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,891,307 (GRCm39)		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,475,264 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Aqp2	T	C	15: 99,481,753 (GRCm39)	S216P	probably damaging	Het
Brd10	T	C	19: 29,721,009 (GRCm39)	K672R	possibly damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,486,295 (GRCm39)		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,511,018 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cela2a	T	C	4: 141,549,026 (GRCm39)	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,350,375 (GRCm39)	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,821,424 (GRCm39)		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,821,440 (GRCm39)		probably null	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,643,217 (GRCm39)		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Flii	G	A	11: 60,607,069 (GRCm39)	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,519,768 (GRCm39)		probably benign	Het
Gas1	G	GAAA	13: 60,324,345 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,767,220 (GRCm39)	D115G	probably null	Het
Guca2b	G	T	4: 119,514,044 (GRCm39)	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,767,198 (GRCm39)	S920T	unknown	Het
Heatr1	A	G	13: 12,422,425 (GRCm39)	M484V	probably benign	Het
Iba57	G	T	11: 59,054,438 (GRCm39)	A27E	probably benign	Het
Ifi207	G	C	1: 173,556,687 (GRCm39)	L684V	not run	Het
Ints13	T	C	6: 146,457,738 (GRCm39)	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,055,978 (GRCm39)	T466I	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,089,664 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,543,457 (GRCm39)	D1399E	probably damaging	Het
Macf1	A	T	4: 123,367,648 (GRCm39)	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,406,681 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,734,370 (GRCm39)	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nalf2	CGCCGC	CGCCGCAGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,824,156 (GRCm39)	N167D	probably damaging	Het
Or4d10c	C	T	19: 12,065,611 (GRCm39)	V182I	probably benign	Het
Or5be3	T	A	2: 86,864,385 (GRCm39)	Y60F	probably damaging	Het
Osbpl3	CCTGCA	C	6: 50,325,118 (GRCm39)		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,146,540 (GRCm39)		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,146,541 (GRCm39)		probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,599,179 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,281,878 (GRCm39)	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,471,541 (GRCm39)		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 24,164,328 (GRCm39)		probably benign	Het
Sec14l3	A	C	11: 4,017,963 (GRCm39)	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,515 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tox2	A	G	2: 163,067,484 (GRCm39)	I68V	probably benign	Het
Triml2	G	T	8: 43,636,201 (GRCm39)		probably benign	Het
Tspan33	A	G	6: 29,716,729 (GRCm39)	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp948	T	C	17: 21,808,574 (GRCm39)	Y589H	probably damaging	Het
Zic1	T	C	9: 91,246,383 (GRCm39)	I230V	probably benign	Het

Other mutations in E4f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:E4f1	APN	17	24,663,208 (GRCm39)	missense	probably damaging	0.99
IGL02306:E4f1	APN	17	24,665,903 (GRCm39)	missense	probably damaging	1.00
IGL03219:E4f1	APN	17	24,664,419 (GRCm39)	critical splice donor site	probably null
FR4342:E4f1	UTSW	17	24,674,171 (GRCm39)	unclassified	probably benign
FR4737:E4f1	UTSW	17	24,674,166 (GRCm39)	unclassified	probably benign
R0084:E4f1	UTSW	17	24,663,056 (GRCm39)	missense	possibly damaging	0.79
R0179:E4f1	UTSW	17	24,670,411 (GRCm39)	missense	possibly damaging	0.57
R1171:E4f1	UTSW	17	24,670,523 (GRCm39)	missense	probably damaging	1.00
R1773:E4f1	UTSW	17	24,665,558 (GRCm39)	missense	probably damaging	1.00
R4531:E4f1	UTSW	17	24,664,961 (GRCm39)	missense	possibly damaging	0.56
R5243:E4f1	UTSW	17	24,666,292 (GRCm39)	missense	probably damaging	1.00
R5430:E4f1	UTSW	17	24,663,944 (GRCm39)	missense	probably damaging	1.00
R5543:E4f1	UTSW	17	24,666,336 (GRCm39)	missense	possibly damaging	0.49
R5598:E4f1	UTSW	17	24,666,103 (GRCm39)	missense	probably damaging	1.00
R5604:E4f1	UTSW	17	24,663,118 (GRCm39)	missense	probably damaging	1.00
R5858:E4f1	UTSW	17	24,664,302 (GRCm39)	missense	probably damaging	1.00
R6240:E4f1	UTSW	17	24,663,556 (GRCm39)	missense	possibly damaging	0.54
R6703:E4f1	UTSW	17	24,666,105 (GRCm39)	missense	probably damaging	1.00
R7108:E4f1	UTSW	17	24,663,552 (GRCm39)	missense	probably damaging	0.96
R7122:E4f1	UTSW	17	24,663,808 (GRCm39)	nonsense	probably null
R7240:E4f1	UTSW	17	24,663,299 (GRCm39)	missense	probably damaging	1.00
R7604:E4f1	UTSW	17	24,674,207 (GRCm39)	missense	unknown
R7648:E4f1	UTSW	17	24,664,422 (GRCm39)	missense	probably benign	0.02
R8357:E4f1	UTSW	17	24,665,501 (GRCm39)	missense	probably benign	0.39
R8457:E4f1	UTSW	17	24,665,501 (GRCm39)	missense	probably benign	0.39
R8769:E4f1	UTSW	17	24,663,574 (GRCm39)	missense	probably damaging	1.00
R8965:E4f1	UTSW	17	24,664,504 (GRCm39)	missense	probably benign	0.04
R9522:E4f1	UTSW	17	24,666,096 (GRCm39)	missense	probably damaging	1.00
RF002:E4f1	UTSW	17	24,674,160 (GRCm39)	unclassified	probably benign
RF020:E4f1	UTSW	17	24,674,169 (GRCm39)	unclassified	probably benign
RF023:E4f1	UTSW	17	24,674,157 (GRCm39)	unclassified	probably benign
RF028:E4f1	UTSW	17	24,674,164 (GRCm39)	unclassified	probably benign
RF033:E4f1	UTSW	17	24,674,157 (GRCm39)	unclassified	probably benign
RF035:E4f1	UTSW	17	24,674,169 (GRCm39)	unclassified	probably benign
RF035:E4f1	UTSW	17	24,674,164 (GRCm39)	unclassified	probably benign
Z1176:E4f1	UTSW	17	24,665,119 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAAATGGGCTCCCTGTGAG -3'
(R):5'- TGCCTGTCCGTCAAATTCG -3'

Sequencing Primer
(F):5'- ATCTGGCCCAACGGGTTAGAG -3'
(R):5'- TGCCTGTCGGACACGCAG -3'

Posted On

2019-12-04