Mutagenetix > Incidental Mutation

Incidental Mutation 'R7240:E4f1'

563165

Institutional Source

Beutler Lab

Gene Symbol

E4f1

Ensembl Gene

ENSMUSG00000024137

Gene Name

E4F transcription factor 1

Synonyms

MMRRC Submission

045347-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7240 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24443778-24470313 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24444325 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 669 (I669F)

Ref Sequence

ENSEMBL: ENSMUSP00000062344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056032] [ENSMUST00000088506] [ENSMUST00000119932] [ENSMUST00000148820] [ENSMUST00000154675] [ENSMUST00000226654] [ENSMUST00000226754] [ENSMUST00000226941]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000056032
AA Change: I669F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: I669F

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: ENSMUST00000088506

SMART Domains

Protein: ENSMUSP00000085862
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	5	276	4.18e-185	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119932

SMART Domains

Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	5	276	4.18e-185	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129401

Predicted Effect

probably benign
Transcript: ENSMUST00000148820

SMART Domains

Protein: ENSMUSP00000119453
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
Blast:DNaseIc	5	60	2e-33	BLAST
PDB:4AWN\|A	22	60	5e-8	PDB
SCOP:d2dnja_	22	60	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154675

SMART Domains

Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136

Domain	Start	End	E-Value	Type
DNaseIc	1	180	4.58e-86	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226654

Predicted Effect

probably benign
Transcript: ENSMUST00000226754

Predicted Effect

probably benign
Transcript: ENSMUST00000226941

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (50/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,605,075	I59T	unknown	Het
Aspm	C	T	1: 139,478,651	Q1759*	probably null	Het
Atn1	A	T	6: 124,747,898	I124K	unknown	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,397,572		probably benign	Het
Ccdc88c	C	T	12: 100,944,939	V879M	probably benign	Het
Cd300c	A	G	11: 114,959,783	C65R	possibly damaging	Het
Cd69	A	T	6: 129,270,042	S112T	possibly damaging	Het
Cdh19	T	C	1: 110,893,407	T534A	probably benign	Het
Cdk5rap2	T	A	4: 70,291,908	D701V	probably damaging	Het
D130052B06Rik	A	G	11: 33,623,874	H157R	possibly damaging	Het
Dpf1	T	A	7: 29,311,627	F150L	probably benign	Het
Dsg1c	T	C	18: 20,283,109	L689P	probably damaging	Het
Dstyk	G	A	1: 132,454,123	M538I	probably benign	Het
Gm7138	T	C	10: 77,776,755	T64A	unknown	Het
Gnai2	A	C	9: 107,615,773	D310E		Het
Iqca	A	G	1: 90,070,550	V567A	possibly damaging	Het
Iqgap1	A	T	7: 80,759,839	N249K	probably benign	Het
Lamc1	A	G	1: 153,234,650	V1093A	possibly damaging	Het
Mfap3	A	G	11: 57,529,756	K188E	probably damaging	Het
N4bp2	T	A	5: 65,794,545	V431D	probably damaging	Het
Notch4	A	G	17: 34,576,471	T792A	probably benign	Het
Ntn4	A	G	10: 93,745,741	H592R	probably damaging	Het
Ofcc1	A	G	13: 40,208,841	C202R	probably benign	Het
Olfr13	A	G	6: 43,174,501	K172E	probably benign	Het
Olfr418	T	C	1: 173,270,994	I273T	probably benign	Het
Olfr476	T	C	7: 107,968,188	S264P	probably benign	Het
Olfr497	A	G	7: 108,422,933	M121V	probably damaging	Het
Olfr922	A	G	9: 38,815,713	D70G	probably benign	Het
Olfr938	A	T	9: 39,078,610	M45K	probably damaging	Het
Parpbp	G	A	10: 88,124,940	T228I	probably damaging	Het
Pcdhgb8	G	A	18: 37,763,703	V609M	probably damaging	Het
Pla2g4d	T	C	2: 120,270,349	N543S	probably damaging	Het
Puf60	A	G	15: 76,072,539		probably benign	Het
Rbm6	A	T	9: 107,852,896	D184E	probably damaging	Het
Rnase9	A	C	14: 51,038,979	S181A	probably benign	Het
Rnpc3	T	A	3: 113,616,831	R270S	probably damaging	Het
Rundc1	T	C	11: 101,431,548		probably null	Het
Ryr1	T	C	7: 29,052,015	S3715G	possibly damaging	Het
Scn3a	A	T	2: 65,469,042	D1373E	possibly damaging	Het
Serpina3k	T	G	12: 104,340,602	I31S	probably benign	Het
Sipa1l2	A	G	8: 125,469,860	F712L	probably damaging	Het
Slc22a29	A	G	19: 8,161,511	V529A	probably damaging	Het
Tdrd3	A	G	14: 87,458,803	N58S	probably benign	Het
Tmc2	C	T	2: 130,234,804	T350I	possibly damaging	Het
Tpst2	T	C	5: 112,307,678	C28R	probably benign	Het
Trbv21	A	T	6: 41,202,958	K69N	probably benign	Het
Trpm2	A	G	10: 77,935,876		probably null	Het
Ttn	A	G	2: 76,848,990	V10796A	unknown	Het
Ush2a	A	G	1: 188,911,661	T4407A	possibly damaging	Het
Vmn2r95	A	G	17: 18,451,963	H726R	probably benign	Het
Zfp777	A	G	6: 48,044,449	S80P	probably benign	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
R0179:E4f1	UTSW	17	24451437	missense	possibly damaging	0.57
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
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
R8769:E4f1	UTSW	17	24444600	missense	probably damaging	1.00
R8965:E4f1	UTSW	17	24445530	missense	probably benign	0.04
R9522:E4f1	UTSW	17	24447122	missense	probably damaging	1.00
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'- GTTCAGTACTGTTTGGACCTGC -3'
(R):5'- ACCTCCAGTCAACTGTCCAG -3'

Sequencing Primer
(F):5'- GTACCCTCACTGATCGCTGAAG -3'
(R):5'- AGTCAACTGTCCAGGCCACTG -3'

Posted On

2019-06-26