Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02306:E4f1'

287594

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E4f1

Ensembl Gene

ENSMUSG00000024137

Gene Name

E4F transcription factor 1

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02306

Quality Score

Status

Chromosome

Chromosomal Location

24443778-24470313 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24446929 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 88 (R88S)

Ref Sequence

ENSEMBL: ENSMUSP00000154556 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056032
AA Change: R247S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062344
Gene: ENSMUSG00000024137
AA Change: R247S

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

noncoding transcript
Transcript: ENSMUST00000153858

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 damaging
Transcript: ENSMUST00000226654
AA Change: R88S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226754
AA Change: R247S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226941
AA Change: R247S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227293

Predicted Effect

probably benign
Transcript: ENSMUST00000228882

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,158,395	Y680C	probably damaging	Het
Abcb11	C	T	2: 69,265,457	W846*	probably null	Het
Adam34	G	A	8: 43,650,485	R708C	probably benign	Het
Adam6a	T	A	12: 113,545,723	L572Q	possibly damaging	Het
Aldoart2	A	G	12: 55,565,704	Y138C	probably damaging	Het
Amigo1	T	A	3: 108,187,986	F267Y	probably benign	Het
Car7	A	G	8: 104,548,998	Y137C	probably damaging	Het
Ccar2	A	T	14: 70,142,022	M509K	probably benign	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cd163l1	T	C	7: 140,223,356	C278R	probably damaging	Het
Cmya5	C	T	13: 93,098,019	G187D	probably damaging	Het
Crot	A	T	5: 8,968,701	V555E	possibly damaging	Het
Cstf1	C	T	2: 172,372,971	T4I	probably benign	Het
Cyp2a12	A	G	7: 27,032,583	K250E	probably damaging	Het
Deaf1	T	C	7: 141,324,181		probably null	Het
Dse	C	T	10: 34,160,134	E249K	probably damaging	Het
Fam160b2	T	C	14: 70,588,997	D217G	probably benign	Het
Fam83a	A	C	15: 57,995,308	D248A	probably damaging	Het
Hadhb	T	A	5: 30,166,749	L66Q	probably null	Het
Kalrn	T	C	16: 34,310,527	E440G	probably damaging	Het
Kif3b	A	G	2: 153,320,652	Y527C	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Krtap29-1	A	T	11: 99,978,266	V263E	probably damaging	Het
Mms19	A	G	19: 41,966,264	L72P	probably damaging	Het
Mylpf	T	A	7: 127,213,158		probably benign	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Nedd4l	T	G	18: 65,172,954	S292R	possibly damaging	Het
Nlrc3	A	C	16: 3,964,824	D240E	probably damaging	Het
Obscn	A	T	11: 58,999,671	I7345N	unknown	Het
Olfr1189	A	T	2: 88,592,606	K267N	probably benign	Het
Ostn	A	T	16: 27,346,941	S127C	probably damaging	Het
Patl1	A	G	19: 11,942,886	K735E	possibly damaging	Het
Pde12	A	G	14: 26,668,378	L392P	possibly damaging	Het
Plxdc2	A	G	2: 16,660,774	I213V	probably benign	Het
Plxna4	T	A	6: 32,206,124	Y948F	probably benign	Het
Prlhr	A	T	19: 60,467,915	V71E	probably damaging	Het
Prlr	C	T	15: 10,328,674	P412S	probably benign	Het
Prmt9	A	G	8: 77,560,818	K196R	probably benign	Het
Rundc3a	T	A	11: 102,400,938	L387Q	probably damaging	Het
Ryr3	T	C	2: 112,834,114	I1611V	probably damaging	Het
Ryr3	A	G	2: 112,847,399		probably null	Het
Sfxn2	T	A	19: 46,590,548	M240K	probably damaging	Het
Skor2	T	C	18: 76,862,679	S901P	probably benign	Het
Smad4	T	C	18: 73,662,869		probably null	Het
Snrnp40	T	G	4: 130,365,100	C100W	probably benign	Het
Spink5	T	A	18: 43,964,444	D19E	probably damaging	Het
Sult1d1	T	A	5: 87,556,055		probably benign	Het
Wdr59	G	A	8: 111,492,733	L231F	probably 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
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
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
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	not run

Posted On

2015-04-16