Mutagenetix > Incidental Mutations

Incidental Mutation 'R7122:E4f1'

568645

Institutional Source

Beutler Lab

Gene Symbol

E4f1

Ensembl Gene

ENSMUSG00000024137

Gene Name

E4F transcription factor 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24443778-24470313 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 24444834 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 569 (Q569*)

Ref Sequence

ENSEMBL: ENSMUSP00000153746 (fasta)

Gene Model

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

Predicted Effect

silent
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: 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 null
Transcript: ENSMUST00000226654
AA Change: Q410*

Predicted Effect

probably null
Transcript: ENSMUST00000226754
AA Change: Q569*

Predicted Effect

silent
Transcript: ENSMUST00000226941

Predicted Effect

silent
Transcript: ENSMUST00000228882

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,511,276	E126V	probably benign	Het
Alg3	A	T	16: 20,607,852	L213H	probably damaging	Het
Atp1a4	T	A	1: 172,231,936	Y863F	possibly damaging	Het
Atp6v0e	A	G	17: 26,695,416	T72A	probably benign	Het
Aup1	A	G	6: 83,055,142	T97A	probably benign	Het
Bcl6	T	C	16: 23,972,902	D234G	probably damaging	Het
Cdc42bpa	T	C	1: 180,065,018	L249P	probably damaging	Het
Celsr3	A	G	9: 108,828,567	K750E	possibly damaging	Het
Ces1g	C	A	8: 93,317,037	G425C	possibly damaging	Het
Chl1	T	C	6: 103,706,448	L745P	probably damaging	Het
Csmd2	G	A	4: 128,449,227	V1471M		Het
Dnah12	G	A	14: 26,778,912		probably null	Het
E330017A01Rik	C	A	16: 58,637,777	A54S	probably benign	Het
Fbxw24	A	T	9: 109,601,260	C439S	probably benign	Het
Gm11639	A	T	11: 105,008,961	I4350F	possibly damaging	Het
Gmip	C	T	8: 69,817,802	P721S	probably benign	Het
Grip1	A	G	10: 120,035,374	I669V	possibly damaging	Het
Gsn	A	T	2: 35,295,049	K339*	probably null	Het
Herc1	G	T	9: 66,399,774	A959S	possibly damaging	Het
Hic1	A	G	11: 75,169,230	V97A	probably benign	Het
Il11ra1	A	G	4: 41,766,189	Y242C	probably damaging	Het
Iqsec3	A	C	6: 121,473,358	V69G	unknown	Het
Jak3	T	A	8: 71,685,957	M933K	probably damaging	Het
Kbtbd7	G	A	14: 79,428,317	V530I	probably damaging	Het
Kif22	G	A	7: 127,032,978	R345C	probably benign	Het
Klhl7	G	A	5: 24,138,435	E250K	probably damaging	Het
Klk1b4	A	G	7: 44,211,107	H183R	probably damaging	Het
Lhfpl4	C	T	6: 113,176,671	V140I	probably benign	Het
Lhx5	T	A	5: 120,436,345	M238K	probably benign	Het
Lin28b	A	T	10: 45,469,148	H27Q	probably benign	Het
Mgat4c	A	T	10: 102,378,209	R18*	probably null	Het
Myct1	C	A	10: 5,604,492	H120N	probably damaging	Het
Nek1	A	T	8: 61,106,795	D984V	probably benign	Het
Nfu1	A	T	6: 87,009,881		probably benign	Het
Nipsnap1	A	T	11: 4,883,366		probably null	Het
Nlrp9c	A	G	7: 26,385,621	Y178H	probably damaging	Het
Nrxn3	T	A	12: 89,510,607	M520K	probably damaging	Het
Oacyl	A	G	18: 65,720,252	D143G	probably benign	Het
Obox5	A	G	7: 15,758,807	Y229C	probably damaging	Het
Olfr340	A	G	2: 36,452,690	Y35C	probably damaging	Het
Olfr347	G	A	2: 36,734,424	M34I	probably benign	Het
Olfr448	T	C	6: 42,897,090	V213A	probably damaging	Het
Olfr669	T	C	7: 104,939,198	L224P	probably damaging	Het
Otogl	C	T	10: 107,866,654	A713T	probably benign	Het
Pcdhb17	A	C	18: 37,486,513	N452T	probably benign	Het
Pi16	A	G	17: 29,326,339	Y192C	probably damaging	Het
Pla2g5	T	C	4: 138,804,519	D58G	probably damaging	Het
Plpp4	G	T	7: 129,379,483	V153F	unknown	Het
Plxna2	C	A	1: 194,644,568	S270*	probably null	Het
Pole	T	A	5: 110,325,102		probably null	Het
Prmt7	T	C	8: 106,235,100	F215S	unknown	Het
Ptpn21	C	T	12: 98,688,912	V599I	probably damaging	Het
Rab26	C	A	17: 24,530,678	R131L	probably damaging	Het
Raph1	A	T	1: 60,525,977	V117D	probably benign	Het
Sacs	T	C	14: 61,210,396	V3297A	probably damaging	Het
Serpine1	C	A	5: 137,066,942	A262S	probably benign	Het
Sgf29	A	G	7: 126,672,049	D193G	probably null	Het
Sh3rf2	G	A	18: 42,104,162		probably null	Het
Sipa1l1	T	C	12: 82,422,462	V1245A	possibly damaging	Het
Slc22a7	A	G	17: 46,438,298	L31P	probably damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Slc26a7	A	T	4: 14,533,639	Y395N	probably damaging	Het
Slc38a2	T	C	15: 96,693,301	M229V	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Susd1	G	A	4: 59,411,318	R225*	probably null	Het
Suz12	T	A	11: 79,993,593	F92I	probably damaging	Het
Tmem114	C	A	16: 8,424,746		probably benign	Het
Tmem68	A	G	4: 3,564,107	V159A	probably benign	Het
Tpra1	T	A	6: 88,908,294	I76N	probably damaging	Het
Trim45	A	G	3: 100,932,037	T752A	unknown	Het
Trp63	C	A	16: 25,820,477	H138Q	probably damaging	Het
Ugt2a2	T	C	5: 87,460,396	D528G	possibly damaging	Het
Vmn2r39	T	G	7: 9,014,762	K858N	possibly damaging	Het
Zfp629	A	T	7: 127,611,312	S442T	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
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
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'- TTCTGCAAGCACAGTGGCAG -3'
(R):5'- TTACTCTTGGCCTCAGACCTGG -3'

Sequencing Primer
(F):5'- AGGGCTCTCCTCAGACAC -3'
(R):5'- ACCTGGGGGTGGGGTAC -3'

Posted On

2019-09-05