Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01320:E2f7'

74013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

E2f7

Ensembl Gene

ENSMUSG00000020185

Gene Name

E2F transcription factor 7

Synonyms

D10Ertd739e, A630014C11Rik, E2F7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL01320

Quality Score

Status

Chromosome

Chromosomal Location

110745439-110787384 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110754093 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 36 (V36I)

Ref Sequence

ENSEMBL: ENSMUSP00000133494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073781] [ENSMUST00000173471] [ENSMUST00000173634] [ENSMUST00000174857]

AlphaFold

Q6S7F2

Predicted Effect

probably benign
Transcript: ENSMUST00000073781
AA Change: V36I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: V36I

Domain	Start	End	E-Value	Type
E2F_TDP	143	212	1.12e-28	SMART
E2F_TDP	283	368	1.28e-32	SMART
low complexity region	591	602	N/A	INTRINSIC
low complexity region	755	767	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172574

Predicted Effect

probably benign
Transcript: ENSMUST00000173471
AA Change: V36I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: V36I

Domain	Start	End	E-Value	Type
Pfam:E2F_TDP	143	212	1.8e-23	PFAM
Pfam:E2F_TDP	283	368	3.7e-24	PFAM
low complexity region	591	602	N/A	INTRINSIC
low complexity region	755	767	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173634
AA Change: V36I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000173948

SMART Domains

Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185

Domain	Start	End	E-Value	Type
E2F_TDP	29	98	1.12e-28	SMART
E2F_TDP	169	219	3.34e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174810

Predicted Effect

probably benign
Transcript: ENSMUST00000174857
AA Change: V36I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] E2F transcription factors, such as E2F7, play an essential role in the regulation of cell cycle progression (Di Stefano et al., 2003 [PubMed 14633988]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele develop normally through puberty and survive to old age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,575,588	E229G	probably benign	Het
Abca16	T	A	7: 120,439,199	L368Q	probably damaging	Het
Ankrd17	A	T	5: 90,260,129	S1410T	probably damaging	Het
Arntl	T	C	7: 113,303,407	I421T	probably damaging	Het
Asb8	A	G	15: 98,141,278		probably benign	Het
Chrdl2	A	G	7: 100,017,041	Y56C	probably damaging	Het
Crnn	T	C	3: 93,148,212	S102P	probably damaging	Het
Cyb5a	T	C	18: 84,879,523	I115T	probably damaging	Het
Daw1	T	C	1: 83,198,180	I213T	possibly damaging	Het
Dcp1b	T	A	6: 119,215,075	S317R	probably benign	Het
Dnah7a	T	C	1: 53,434,046	M3474V	probably benign	Het
Esrp1	A	G	4: 11,384,374	I103T	possibly damaging	Het
Hap1	G	A	11: 100,349,380	T530I	probably damaging	Het
Hps3	T	C	3: 20,030,469	N185S	probably benign	Het
Klra1	T	A	6: 130,364,261	I250F	probably benign	Het
Lipn	A	G	19: 34,084,640	T332A	probably benign	Het
Ltbp4	A	G	7: 27,328,359		probably benign	Het
Ncor2	A	G	5: 125,109,927	V11A	probably benign	Het
Nipsnap2	C	T	5: 129,744,764	T108M	probably damaging	Het
Olfr153	T	A	2: 87,532,285	M84K	probably benign	Het
Olfr479	A	G	7: 108,054,981		probably benign	Het
Ppid	A	G	3: 79,595,277	E46G	probably damaging	Het
Rrp12	A	G	19: 41,877,936	L626P	probably damaging	Het
Slc6a15	A	T	10: 103,404,745	I410F	probably benign	Het
Sorcs1	A	G	19: 50,288,079		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
St8sia5	A	T	18: 77,254,622	T307S	probably damaging	Het
Stac2	T	C	11: 98,040,095		probably null	Het
Tiam2	T	C	17: 3,505,745	L77P	probably damaging	Het
Tmem87b	G	T	2: 128,831,216	G190V	probably damaging	Het
Trav7-6	T	C	14: 53,717,108	S32P	possibly damaging	Het
Unc45b	A	G	11: 82,912,393		probably null	Het
Wnt1	C	A	15: 98,792,523	D244E	possibly damaging	Het

Other mutations in E2f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01592:E2f7	APN	10	110746406	missense	possibly damaging	0.86
IGL01614:E2f7	APN	10	110759978	missense	probably damaging	1.00
IGL01829:E2f7	APN	10	110779094	missense	probably benign	0.00
IGL01843:E2f7	APN	10	110774735	missense	probably benign	0.01
IGL02683:E2f7	APN	10	110782459	missense	probably benign	0.28
IGL03229:E2f7	APN	10	110754346	missense	probably benign	0.04
R0245:E2f7	UTSW	10	110774795	nonsense	probably null
R2108:E2f7	UTSW	10	110780902	missense	probably benign	0.20
R2259:E2f7	UTSW	10	110746343	missense	probably damaging	0.99
R3408:E2f7	UTSW	10	110784717	missense	possibly damaging	0.57
R4356:E2f7	UTSW	10	110759851	missense	probably damaging	0.98
R4542:E2f7	UTSW	10	110767123	missense	probably damaging	1.00
R4763:E2f7	UTSW	10	110780849	missense	probably damaging	0.97
R5236:E2f7	UTSW	10	110767209	missense	probably damaging	1.00
R5520:E2f7	UTSW	10	110759945	missense	probably damaging	1.00
R6481:E2f7	UTSW	10	110774681	missense	probably damaging	1.00
R7253:E2f7	UTSW	10	110766303	splice site	probably null
R7320:E2f7	UTSW	10	110764130	missense	not run
R7348:E2f7	UTSW	10	110780975	missense	probably damaging	0.98
R8219:E2f7	UTSW	10	110759843	missense	probably damaging	1.00
R8530:E2f7	UTSW	10	110778998	missense	probably benign	0.31
R8887:E2f7	UTSW	10	110774813	missense	probably benign	0.02
R8958:E2f7	UTSW	10	110765754	missense	probably damaging	0.98
R9092:E2f7	UTSW	10	110781013	missense	probably benign	0.01
R9166:E2f7	UTSW	10	110782224	missense	probably benign	0.04
R9192:E2f7	UTSW	10	110763990	missense	probably damaging	1.00
R9454:E2f7	UTSW	10	110784681	missense	probably benign	0.00
R9474:E2f7	UTSW	10	110767189	missense	probably damaging	1.00
R9474:E2f7	UTSW	10	110779057	missense	probably damaging	0.99
R9538:E2f7	UTSW	10	110780767	missense	possibly damaging	0.80

Posted On

2013-10-07