Mutagenetix > Incidental Mutations

Incidental Mutation 'R0179:E4f1'

23074

Institutional Source

Beutler Lab

Gene Symbol

E4f1

Ensembl Gene

ENSMUSG00000024137

Gene Name

E4F transcription factor 1

Synonyms

MMRRC Submission

038447-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0179 (G1)

Quality Score

179

Status

Validated (trace)

Chromosome

Chromosomal Location

24443778-24470313 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 24451437 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 92 (T92S)

Ref Sequence

ENSEMBL: ENSMUSP00000153746 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000056032
AA Change: T92S

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

SMART Domains

Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: T92S

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

possibly damaging
Transcript: ENSMUST00000226754
AA Change: T92S

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000226941
AA Change: T92S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Predicted Effect

probably benign
Transcript: ENSMUST00000228882
AA Change: T14S

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0961

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,214	S516P	probably benign	Het
4932431P20Rik	A	G	7: 29,535,940		noncoding transcript	Het
Adamts1	C	T	16: 85,795,465	S948N	probably benign	Het
Adck1	A	T	12: 88,459,172	M457L	possibly damaging	Het
Adprm	A	T	11: 67,038,225	H313Q	possibly damaging	Het
Adssl1	T	C	12: 112,632,269	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,048	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Ankrd50	A	G	3: 38,455,314	V968A	possibly damaging	Het
Brf2	T	C	8: 27,125,868	D163G	possibly damaging	Het
Cd226	C	A	18: 89,207,139	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,918,608	D23G	probably benign	Het
Cdc7	T	C	5: 106,965,039	S8P	probably benign	Het
Cdh8	C	T	8: 99,111,712	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516	F2534L	probably benign	Het
Ckb	T	C	12: 111,670,176	T255A	probably benign	Het
Cntnap5c	G	T	17: 57,769,625	W19L	probably benign	Het
Cntrl	A	G	2: 35,167,859	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cop1	A	G	1: 159,250,066	D157G	probably benign	Het
Csf2rb	A	C	15: 78,336,372	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 60,896,293	D52G	possibly damaging	Het
Dcaf7	A	T	11: 106,051,797	D190V	probably damaging	Het
Depdc5	T	A	5: 32,901,574		probably benign	Het
Dgkq	A	G	5: 108,658,200		probably benign	Het
Dhrs2	A	G	14: 55,240,476	T222A	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
Ep400	A	T	5: 110,668,649	S2669T	probably damaging	Het
Eprs	T	G	1: 185,413,547	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,022,027	K99*	probably null	Het
Fzr1	A	T	10: 81,369,070		probably benign	Het
Gcc2	C	T	10: 58,276,650	R1001C	probably benign	Het
Gm4884	A	G	7: 41,043,828	D407G	probably benign	Het
Golga4	A	T	9: 118,560,740		probably null	Het
Gp2	T	G	7: 119,452,317	D225A	possibly damaging	Het
Gramd1a	T	A	7: 31,142,418	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,839,227	N121I	probably benign	Het
Htr6	A	T	4: 139,062,126	L276Q	probably damaging	Het
Itga9	A	T	9: 118,661,386	I262F	probably benign	Het
Lamc3	A	G	2: 31,915,084		probably benign	Het
Large1	T	C	8: 73,098,846	N200S	probably benign	Het
Lct	C	T	1: 128,327,685	V207I	probably benign	Het
Marf1	C	A	16: 14,151,176	L144F	probably damaging	Het
Morc2b	A	T	17: 33,136,982	Y605*	probably null	Het
Mtus1	G	T	8: 41,002,361	L87I	possibly damaging	Het
Muc2	A	G	7: 141,748,971	Y17C	probably damaging	Het
Myf5	T	C	10: 107,485,918	D5G	possibly damaging	Het
Nasp	C	T	4: 116,602,157	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,552,265		probably null	Het
Nrg2	T	C	18: 36,022,415	Q447R	probably benign	Het
Ntn5	G	A	7: 45,686,313	G56D	probably damaging	Het
Oasl2	A	G	5: 114,910,912	R138G	probably benign	Het
Olfr1209	A	T	2: 88,909,893	C167S	possibly damaging	Het
Olfr1489	T	A	19: 13,633,140	F10I	probably damaging	Het
Olfr827	T	C	10: 130,210,338	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,322,559	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,525,000	E128G	probably damaging	Het
Prpf19	T	C	19: 10,897,808		probably benign	Het
Ptpn3	T	A	4: 57,270,118	T15S	probably benign	Het
R3hdm2	G	A	10: 127,495,106	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,889,998	V39A	possibly damaging	Het
Rptor	A	T	11: 119,872,367	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,542,707	D41N	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Ssbp3	T	C	4: 107,046,388	S334P	probably damaging	Het
Suco	A	G	1: 161,876,305		probably benign	Het
Synj1	T	C	16: 90,964,631	K649R	possibly damaging	Het
Tdp2	C	T	13: 24,840,448	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,996,882		probably benign	Het
Trerf1	T	C	17: 47,316,662		noncoding transcript	Het
Trip10	T	C	17: 57,262,349		probably benign	Het
Tsen54	A	T	11: 115,822,030	S131C	probably damaging	Het
Unc5c	A	T	3: 141,818,067	R794*	probably null	Het
Vmn2r59	A	T	7: 42,047,008	Y103*	probably null	Het
Washc5	A	G	15: 59,352,530	V460A	probably benign	Het
Whamm	A	G	7: 81,594,015	T358A	probably benign	Het
Xlr4b	C	T	X: 73,218,671		probably benign	Het
Zbbx	C	T	3: 75,085,562		probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp27	T	A	7: 29,896,425	E38D	possibly damaging	Het

Other mutations in E4f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:E4f1	APN	17	24444234	missense	probably damaging	0.99
IGL02306:E4f1	APN	17	24446929	missense	probably damaging	1.00
IGL03219:E4f1	APN	17	24445445	critical splice donor site	probably null
FR4342:E4f1	UTSW	17	24455197	unclassified	probably benign
FR4737:E4f1	UTSW	17	24455192	unclassified	probably benign
R0084:E4f1	UTSW	17	24444082	missense	possibly damaging	0.79
R1171:E4f1	UTSW	17	24451549	missense	probably damaging	1.00
R1773:E4f1	UTSW	17	24446584	missense	probably damaging	1.00
R4531:E4f1	UTSW	17	24445987	missense	possibly damaging	0.56
R5243:E4f1	UTSW	17	24447318	missense	probably damaging	1.00
R5430:E4f1	UTSW	17	24444970	missense	probably damaging	1.00
R5543:E4f1	UTSW	17	24447362	missense	possibly damaging	0.49
R5598:E4f1	UTSW	17	24447129	missense	probably damaging	1.00
R5604:E4f1	UTSW	17	24444144	missense	probably damaging	1.00
R5858:E4f1	UTSW	17	24445328	missense	probably damaging	1.00
R6240:E4f1	UTSW	17	24444582	missense	possibly damaging	0.54
R6703:E4f1	UTSW	17	24447131	missense	probably damaging	1.00
R7108:E4f1	UTSW	17	24444578	missense	probably damaging	0.96
R7122:E4f1	UTSW	17	24444834	nonsense	probably null
R7240:E4f1	UTSW	17	24444325	missense	probably damaging	1.00
R7604:E4f1	UTSW	17	24455233	missense	unknown
R7648:E4f1	UTSW	17	24445448	missense	probably benign	0.02
R8357:E4f1	UTSW	17	24446527	missense	probably benign	0.39
R8457:E4f1	UTSW	17	24446527	missense	probably benign	0.39
RF002:E4f1	UTSW	17	24455186	unclassified	probably benign
RF011:E4f1	UTSW	17	24455186	unclassified	probably benign
RF020:E4f1	UTSW	17	24455195	unclassified	probably benign
RF023:E4f1	UTSW	17	24455183	unclassified	probably benign
RF028:E4f1	UTSW	17	24455190	unclassified	probably benign
RF033:E4f1	UTSW	17	24455183	unclassified	probably benign
RF035:E4f1	UTSW	17	24455190	unclassified	probably benign
RF035:E4f1	UTSW	17	24455195	unclassified	probably benign
Z1176:E4f1	UTSW	17	24446145	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCATGCATATCTGCCACTTGTC -3'
(R):5'- CCAGTGTGTTTCCAGTAGCTCCTG -3'

Sequencing Primer
(F):5'- GCATATCTGCCACTTGTCATAAAC -3'
(R):5'- AGGCATACCAACTCTGGTTTGAG -3'

Posted On

2013-04-16