Incidental Mutation 'R9348:E2f1'
ID 707904
Institutional Source Beutler Lab
Gene Symbol E2f1
Ensembl Gene ENSMUSG00000027490
Gene Name E2F transcription factor 1
Synonyms E2F-1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.858) question?
Stock # R9348 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 154401327-154411812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154402755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 382 (E382D)
Ref Sequence ENSEMBL: ENSMUSP00000099434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000894] [ENSMUST00000000895] [ENSMUST00000103145] [ENSMUST00000109716] [ENSMUST00000125793]
AlphaFold Q61501
Predicted Effect probably benign
Transcript: ENSMUST00000000894
AA Change: E337D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000000894
Gene: ENSMUSG00000027490
AA Change: E337D

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:E2F_TDP 77 142 1.1e-25 PFAM
low complexity region 156 173 N/A INTRINSIC
low complexity region 273 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000000895
SMART Domains Protein: ENSMUSP00000000895
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 58 7.3e-8 PFAM
Pfam:EF-hand_5 32 57 4.6e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
coiled coil region 209 237 N/A INTRINSIC
Pfam:ABM 252 327 4.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103145
AA Change: E382D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099434
Gene: ENSMUSG00000027490
AA Change: E382D

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
low complexity region 62 82 N/A INTRINSIC
E2F_TDP 122 187 1.63e-30 SMART
Pfam:E2F_CC-MB 201 294 2.2e-37 PFAM
low complexity region 318 340 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109716
SMART Domains Protein: ENSMUSP00000105338
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
Pfam:EF-hand_1 31 59 6.9e-8 PFAM
Pfam:EF-hand_5 32 57 1.7e-9 PFAM
low complexity region 180 203 N/A INTRINSIC
Pfam:ABM 232 303 2.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125793
SMART Domains Protein: ENSMUSP00000117090
Gene: ENSMUSG00000027489

DomainStartEndE-ValueType
low complexity region 146 168 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show defective T lymphocyte development, impaired pancreatic growth and beta cell function, altered glucose homeostasis, testicular atrophy, salivary gland and adipose tissue defects, and increased tumor induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 C T 8: 41,208,953 (GRCm39) P740S probably benign Het
Arfgef1 G T 1: 10,283,419 (GRCm39) H163Q probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atp6v1h T A 1: 5,187,699 (GRCm39) D222E probably damaging Het
Auts2 T C 5: 131,490,155 (GRCm39) T165A Het
BC034090 A G 1: 155,099,049 (GRCm39) S579P probably benign Het
Bpifb9b T A 2: 154,160,766 (GRCm39) S546T probably benign Het
C4b C T 17: 34,952,159 (GRCm39) V1229I probably benign Het
Cadps2 T C 6: 23,344,262 (GRCm39) D895G probably benign Het
Cby2 A G 14: 75,820,838 (GRCm39) S296P probably damaging Het
Cep112 T C 11: 108,328,076 (GRCm39) S51P probably damaging Het
Cep164 T C 9: 45,717,708 (GRCm39) H545R unknown Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Crlf1 T A 8: 70,951,316 (GRCm39) I65K probably benign Het
Crybg3 T C 16: 59,421,256 (GRCm39) M1V probably null Het
Cyb5d1 T A 11: 69,285,830 (GRCm39) I69L probably damaging Het
D430041D05Rik T C 2: 104,088,337 (GRCm39) D213G probably benign Het
Dennd5a C G 7: 109,498,930 (GRCm39) probably null Het
Dennd5a T A 7: 109,498,942 (GRCm39) M998L probably benign Het
Enpep T A 3: 129,102,772 (GRCm39) T395S probably benign Het
Gm20939 A G 17: 95,182,977 (GRCm39) E71G probably damaging Het
Hs1bp3 T A 12: 8,386,273 (GRCm39) V225E probably benign Het
Icam5 T C 9: 20,943,427 (GRCm39) M1T probably null Het
Ifi205 T C 1: 173,844,997 (GRCm39) I262V probably benign Het
Iqce T C 5: 140,677,380 (GRCm39) Y147C probably damaging Het
Kcnh2 C T 5: 24,538,003 (GRCm39) G120E probably damaging Het
Kif3c A G 12: 3,417,505 (GRCm39) T509A probably benign Het
Napepld A T 5: 21,875,490 (GRCm39) N351K probably benign Het
Ndufaf3 C A 9: 108,443,357 (GRCm39) probably null Het
Nlrp9b C T 7: 19,757,336 (GRCm39) T191I probably damaging Het
Oog2 T C 4: 143,921,789 (GRCm39) L233P probably damaging Het
Or1a1b T A 11: 74,097,289 (GRCm39) Y251F probably damaging Het
Or2g1 T C 17: 38,106,992 (GRCm39) I219T probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or2w1 T A 13: 21,317,131 (GRCm39) F62Y possibly damaging Het
Preb A G 5: 31,112,995 (GRCm39) F416L probably benign Het
Prickle2 C T 6: 92,397,243 (GRCm39) V217I probably benign Het
Prss45 T A 9: 110,668,278 (GRCm39) I157N probably damaging Het
Ranbp17 T C 11: 33,429,232 (GRCm39) T338A probably benign Het
Snd1 T C 6: 28,745,206 (GRCm39) F517S probably damaging Het
Srpk2 A T 5: 23,719,671 (GRCm39) F578I probably damaging Het
Stx2 A T 5: 129,076,601 (GRCm39) D27E probably benign Het
Tgfbrap1 A G 1: 43,093,695 (GRCm39) I599T probably benign Het
Trim25 G T 11: 88,900,167 (GRCm39) E305* probably null Het
Ttll7 T A 3: 146,673,768 (GRCm39) I821N probably benign Het
Wdfy3 A G 5: 102,089,358 (GRCm39) L612P probably damaging Het
Zcchc9 T A 13: 91,954,186 (GRCm39) D23V Het
Zfp141 C A 7: 42,124,814 (GRCm39) E553* probably null Het
Zfyve26 T C 12: 79,315,231 (GRCm39) D1415G possibly damaging Het
Zpbp2 C T 11: 98,442,141 (GRCm39) probably benign Het
Other mutations in E2f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0666:E2f1 UTSW 2 154,402,849 (GRCm39) missense probably benign 0.01
R0674:E2f1 UTSW 2 154,406,029 (GRCm39) missense probably damaging 1.00
R1796:E2f1 UTSW 2 154,402,849 (GRCm39) missense probably benign 0.02
R3747:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3751:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3752:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3753:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3843:E2f1 UTSW 2 154,402,748 (GRCm39) missense probably benign 0.00
R3844:E2f1 UTSW 2 154,402,748 (GRCm39) missense probably benign 0.00
R3968:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3969:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R3970:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R4409:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R4700:E2f1 UTSW 2 154,405,942 (GRCm39) missense probably damaging 1.00
R5396:E2f1 UTSW 2 154,406,368 (GRCm39) missense probably benign 0.00
R5666:E2f1 UTSW 2 154,411,101 (GRCm39) intron probably benign
R6368:E2f1 UTSW 2 154,406,396 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- ACCCTGAATCCCTAGGCTTC -3'
(R):5'- CTTGGATCCCAGTCAATCCC -3'

Sequencing Primer
(F):5'- CTAGGCTTCTGTCAGAAATCCAGAG -3'
(R):5'- GGATCCCAGTCAATCCCTGTTGG -3'
Posted On 2022-04-18