Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:E2f7'

682177

Institutional Source

Beutler Lab

Gene Symbol

E2f7

Ensembl Gene

ENSMUSG00000020185

Gene Name

E2F transcription factor 7

Synonyms

D10Ertd739e, A630014C11Rik, E2F7

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110581300-110623245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 110601615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 324 (P324Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133494 (fasta)

Gene Model

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

AlphaFold

Q6S7F2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073781
AA Change: P324Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073453
Gene: ENSMUSG00000020185
AA Change: P324Q

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

probably damaging
Transcript: ENSMUST00000173471
AA Change: P324Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133494
Gene: ENSMUSG00000020185
AA Change: P324Q

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

SMART Domains

Protein: ENSMUSP00000134039
Gene: ENSMUSG00000020185
AA Change: P209Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Gp1ba	C	G	11: 70,531,730 (GRCm39)		probably benign	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	probably null	Het

Other mutations in E2f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:E2f7	APN	10	110,589,954 (GRCm39)	missense	probably benign	0.09
IGL01592:E2f7	APN	10	110,582,267 (GRCm39)	missense	possibly damaging	0.86
IGL01614:E2f7	APN	10	110,595,839 (GRCm39)	missense	probably damaging	1.00
IGL01829:E2f7	APN	10	110,614,955 (GRCm39)	missense	probably benign	0.00
IGL01843:E2f7	APN	10	110,610,596 (GRCm39)	missense	probably benign	0.01
IGL02683:E2f7	APN	10	110,618,320 (GRCm39)	missense	probably benign	0.28
IGL03229:E2f7	APN	10	110,590,207 (GRCm39)	missense	probably benign	0.04
R0245:E2f7	UTSW	10	110,610,656 (GRCm39)	nonsense	probably null
R2108:E2f7	UTSW	10	110,616,763 (GRCm39)	missense	probably benign	0.20
R2259:E2f7	UTSW	10	110,582,204 (GRCm39)	missense	probably damaging	0.99
R3408:E2f7	UTSW	10	110,620,578 (GRCm39)	missense	possibly damaging	0.57
R4356:E2f7	UTSW	10	110,595,712 (GRCm39)	missense	probably damaging	0.98
R4542:E2f7	UTSW	10	110,602,984 (GRCm39)	missense	probably damaging	1.00
R4763:E2f7	UTSW	10	110,616,710 (GRCm39)	missense	probably damaging	0.97
R5236:E2f7	UTSW	10	110,603,070 (GRCm39)	missense	probably damaging	1.00
R5520:E2f7	UTSW	10	110,595,806 (GRCm39)	missense	probably damaging	1.00
R6481:E2f7	UTSW	10	110,610,542 (GRCm39)	missense	probably damaging	1.00
R7253:E2f7	UTSW	10	110,602,164 (GRCm39)	splice site	probably null
R7320:E2f7	UTSW	10	110,599,991 (GRCm39)	missense	not run
R7348:E2f7	UTSW	10	110,616,836 (GRCm39)	missense	probably damaging	0.98
R8219:E2f7	UTSW	10	110,595,704 (GRCm39)	missense	probably damaging	1.00
R8530:E2f7	UTSW	10	110,614,859 (GRCm39)	missense	probably benign	0.31
R8887:E2f7	UTSW	10	110,610,674 (GRCm39)	missense	probably benign	0.02
R9092:E2f7	UTSW	10	110,616,874 (GRCm39)	missense	probably benign	0.01
R9166:E2f7	UTSW	10	110,618,085 (GRCm39)	missense	probably benign	0.04
R9192:E2f7	UTSW	10	110,599,851 (GRCm39)	missense	probably damaging	1.00
R9454:E2f7	UTSW	10	110,620,542 (GRCm39)	missense	probably benign	0.00
R9474:E2f7	UTSW	10	110,614,918 (GRCm39)	missense	probably damaging	0.99
R9474:E2f7	UTSW	10	110,603,050 (GRCm39)	missense	probably damaging	1.00
R9538:E2f7	UTSW	10	110,616,628 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGATCCTTCCATGTGCTGGC -3'
(R):5'- CTCTTAAAGCACAGAGGGCTTTTG -3'

Sequencing Primer
(F):5'- TAGCTCTGGAAAACTGGTAGC -3'
(R):5'- CACAGAGGGCTTTTGTGAGCAC -3'

Posted On

2021-08-31