Incidental Mutation 'IGL02306:E4f1'
ID 287594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol E4f1
Ensembl Gene ENSMUSG00000024137
Gene Name E4F transcription factor 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02306
Quality Score
Status
Chromosome 17
Chromosomal Location 24662752-24674366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24665903 bp (GRCm39)
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] [ENSMUST00000226941] [ENSMUST00000226754] [ENSMUST00000226654] [ENSMUST00000154675]
AlphaFold no structure available at present
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DNaseIc 5 276 4.18e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119932
SMART Domains Protein: ENSMUSP00000113508
Gene: ENSMUSG00000024136

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000226941
AA Change: R247S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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: ENSMUST00000226654
AA Change: R88S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000154675
SMART Domains Protein: ENSMUSP00000116743
Gene: ENSMUSG00000024136

DomainStartEndE-ValueType
DNaseIc 1 180 4.58e-86 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227241
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,952,044 (GRCm39) Y680C probably damaging Het
Abcb11 C T 2: 69,095,801 (GRCm39) W846* probably null Het
Adam34 G A 8: 44,103,522 (GRCm39) R708C probably benign Het
Adam6a T A 12: 113,509,343 (GRCm39) L572Q possibly damaging Het
Aldoart2 A G 12: 55,612,489 (GRCm39) Y138C probably damaging Het
Amigo1 T A 3: 108,095,302 (GRCm39) F267Y probably benign Het
Car7 A G 8: 105,275,630 (GRCm39) Y137C probably damaging Het
Ccar2 A T 14: 70,379,471 (GRCm39) M509K probably benign Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cmya5 C T 13: 93,234,527 (GRCm39) G187D probably damaging Het
Crot A T 5: 9,018,701 (GRCm39) V555E possibly damaging Het
Cstf1 C T 2: 172,214,891 (GRCm39) T4I probably benign Het
Cyp2a12 A G 7: 26,732,008 (GRCm39) K250E probably damaging Het
Deaf1 T C 7: 140,904,094 (GRCm39) probably null Het
Dse C T 10: 34,036,130 (GRCm39) E249K probably damaging Het
Fam83a A C 15: 57,858,704 (GRCm39) D248A probably damaging Het
Fhip2b T C 14: 70,826,437 (GRCm39) D217G probably benign Het
Hadhb T A 5: 30,371,747 (GRCm39) L66Q probably null Het
Kalrn T C 16: 34,130,897 (GRCm39) E440G probably damaging Het
Kif3b A G 2: 153,162,572 (GRCm39) Y527C probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Krtap29-1 A T 11: 99,869,092 (GRCm39) V263E probably damaging Het
Mms19 A G 19: 41,954,703 (GRCm39) L72P probably damaging Het
Mylpf T A 7: 126,812,330 (GRCm39) probably benign Het
Nalcn T A 14: 123,560,750 (GRCm39) I776F probably benign Het
Nedd4l T G 18: 65,306,025 (GRCm39) S292R possibly damaging Het
Nlrc3 A C 16: 3,782,688 (GRCm39) D240E probably damaging Het
Obscn A T 11: 58,890,497 (GRCm39) I7345N unknown Het
Or4c102 A T 2: 88,422,950 (GRCm39) K267N probably benign Het
Ostn A T 16: 27,165,691 (GRCm39) S127C probably damaging Het
Patl1 A G 19: 11,920,250 (GRCm39) K735E possibly damaging Het
Pde12 A G 14: 26,389,533 (GRCm39) L392P possibly damaging Het
Plxdc2 A G 2: 16,665,585 (GRCm39) I213V probably benign Het
Plxna4 T A 6: 32,183,059 (GRCm39) Y948F probably benign Het
Prlhr A T 19: 60,456,353 (GRCm39) V71E probably damaging Het
Prlr C T 15: 10,328,760 (GRCm39) P412S probably benign Het
Prmt9 A G 8: 78,287,447 (GRCm39) K196R probably benign Het
Rundc3a T A 11: 102,291,764 (GRCm39) L387Q probably damaging Het
Ryr3 T C 2: 112,664,459 (GRCm39) I1611V probably damaging Het
Ryr3 A G 2: 112,677,744 (GRCm39) probably null Het
Scart1 T C 7: 139,803,269 (GRCm39) C278R probably damaging Het
Sfxn2 T A 19: 46,578,987 (GRCm39) M240K probably damaging Het
Skor2 T C 18: 76,950,374 (GRCm39) S901P probably benign Het
Smad4 T C 18: 73,795,940 (GRCm39) probably null Het
Snrnp40 T G 4: 130,258,893 (GRCm39) C100W probably benign Het
Spink5 T A 18: 44,097,511 (GRCm39) D19E probably damaging Het
Sult1d1 T A 5: 87,703,914 (GRCm39) probably benign Het
Wdr59 G A 8: 112,219,365 (GRCm39) L231F probably damaging Het
Other mutations in E4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:E4f1 APN 17 24,663,208 (GRCm39) missense probably damaging 0.99
IGL03219:E4f1 APN 17 24,664,419 (GRCm39) critical splice donor site probably null
FR4342:E4f1 UTSW 17 24,674,171 (GRCm39) unclassified probably benign
FR4737:E4f1 UTSW 17 24,674,166 (GRCm39) unclassified probably benign
R0084:E4f1 UTSW 17 24,663,056 (GRCm39) missense possibly damaging 0.79
R0179:E4f1 UTSW 17 24,670,411 (GRCm39) missense possibly damaging 0.57
R1171:E4f1 UTSW 17 24,670,523 (GRCm39) missense probably damaging 1.00
R1773:E4f1 UTSW 17 24,665,558 (GRCm39) missense probably damaging 1.00
R4531:E4f1 UTSW 17 24,664,961 (GRCm39) missense possibly damaging 0.56
R5243:E4f1 UTSW 17 24,666,292 (GRCm39) missense probably damaging 1.00
R5430:E4f1 UTSW 17 24,663,944 (GRCm39) missense probably damaging 1.00
R5543:E4f1 UTSW 17 24,666,336 (GRCm39) missense possibly damaging 0.49
R5598:E4f1 UTSW 17 24,666,103 (GRCm39) missense probably damaging 1.00
R5604:E4f1 UTSW 17 24,663,118 (GRCm39) missense probably damaging 1.00
R5858:E4f1 UTSW 17 24,664,302 (GRCm39) missense probably damaging 1.00
R6240:E4f1 UTSW 17 24,663,556 (GRCm39) missense possibly damaging 0.54
R6703:E4f1 UTSW 17 24,666,105 (GRCm39) missense probably damaging 1.00
R7108:E4f1 UTSW 17 24,663,552 (GRCm39) missense probably damaging 0.96
R7122:E4f1 UTSW 17 24,663,808 (GRCm39) nonsense probably null
R7240:E4f1 UTSW 17 24,663,299 (GRCm39) missense probably damaging 1.00
R7604:E4f1 UTSW 17 24,674,207 (GRCm39) missense unknown
R7648:E4f1 UTSW 17 24,664,422 (GRCm39) missense probably benign 0.02
R8357:E4f1 UTSW 17 24,665,501 (GRCm39) missense probably benign 0.39
R8457:E4f1 UTSW 17 24,665,501 (GRCm39) missense probably benign 0.39
R8769:E4f1 UTSW 17 24,663,574 (GRCm39) missense probably damaging 1.00
R8965:E4f1 UTSW 17 24,664,504 (GRCm39) missense probably benign 0.04
R9522:E4f1 UTSW 17 24,666,096 (GRCm39) missense probably damaging 1.00
RF002:E4f1 UTSW 17 24,674,160 (GRCm39) unclassified probably benign
RF011:E4f1 UTSW 17 24,674,160 (GRCm39) unclassified probably benign
RF020:E4f1 UTSW 17 24,674,169 (GRCm39) unclassified probably benign
RF023:E4f1 UTSW 17 24,674,157 (GRCm39) unclassified probably benign
RF028:E4f1 UTSW 17 24,674,164 (GRCm39) unclassified probably benign
RF033:E4f1 UTSW 17 24,674,157 (GRCm39) unclassified probably benign
RF035:E4f1 UTSW 17 24,674,169 (GRCm39) unclassified probably benign
RF035:E4f1 UTSW 17 24,674,164 (GRCm39) unclassified probably benign
Z1176:E4f1 UTSW 17 24,665,119 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16