Incidental Mutation 'IGL02591:Eapp'
ID299750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eapp
Ensembl Gene ENSMUSG00000054302
Gene NameE2F-associated phosphoprotein
Synonyms1810011O16Rik, EAPP
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.919) question?
Stock #IGL02591
Quality Score
Status
Chromosome12
Chromosomal Location54670340-54695897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54692822 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 70 (N70S)
Ref Sequence ENSEMBL: ENSMUSP00000124699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067272] [ENSMUST00000110713] [ENSMUST00000160085] [ENSMUST00000161592] [ENSMUST00000162106] [ENSMUST00000163433]
Predicted Effect probably benign
Transcript: ENSMUST00000067272
SMART Domains Protein: ENSMUSP00000069381
Gene: ENSMUSG00000054302

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110713
AA Change: N70S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: N70S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
low complexity region 80 97 N/A INTRINSIC
low complexity region 116 125 N/A INTRINSIC
Pfam:Eapp_C 153 241 1.1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160085
AA Change: N70S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: N70S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
low complexity region 80 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161592
AA Change: N70S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: N70S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
low complexity region 80 97 N/A INTRINSIC
low complexity region 116 125 N/A INTRINSIC
Pfam:Eapp_C 136 279 5e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162106
AA Change: N70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: N70S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
low complexity region 112 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163433
AA Change: N70S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: N70S

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
low complexity region 80 97 N/A INTRINSIC
low complexity region 116 125 N/A INTRINSIC
Pfam:Eapp_C 136 279 5.8e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179621
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,480,438 F448I probably benign Het
Afg3l1 T C 8: 123,486,009 F170L probably damaging Het
Aox2 A T 1: 58,358,999 R1300* probably null Het
Cadps G A 14: 12,473,465 R899C probably damaging Het
Ckap4 T C 10: 84,528,590 D203G probably damaging Het
Dsg1c A G 18: 20,275,192 N433D probably damaging Het
Eno3 A T 11: 70,662,027 D378V probably damaging Het
Ep400 T A 5: 110,733,772 probably benign Het
F13a1 T A 13: 36,898,057 I558F probably damaging Het
Fermt1 A T 2: 132,934,866 M234K possibly damaging Het
Fgfr1op2 A G 6: 146,588,846 Q81R probably damaging Het
Gpm6a C T 8: 55,058,919 A276V probably damaging Het
Hecw1 C A 13: 14,357,236 probably benign Het
Ikbip G T 10: 91,096,292 C266F probably damaging Het
Lpar2 C T 8: 69,824,050 A163V probably benign Het
Med17 T A 9: 15,270,361 H31L probably damaging Het
Olfr1002 C A 2: 85,648,143 M59I probably damaging Het
Otoa T C 7: 121,155,830 F992L probably damaging Het
Ptprd T C 4: 75,982,050 H864R probably damaging Het
Samd9l A C 6: 3,375,760 C500W possibly damaging Het
Sarm1 A T 11: 78,487,352 Y501N probably damaging Het
Selp A T 1: 164,130,133 H277L probably damaging Het
Slc39a8 T G 3: 135,884,620 L358R probably damaging Het
Spi1 T A 2: 91,096,950 M1K probably null Het
Thsd1 A G 8: 22,258,727 E477G probably damaging Het
Tlr1 C T 5: 64,926,716 V173M probably damaging Het
Tmco2 C T 4: 121,105,790 D171N probably damaging Het
Ugt2b1 A G 5: 86,917,704 L492P probably damaging Het
Vmn2r70 A T 7: 85,564,945 I333K probably damaging Het
Zfp598 C A 17: 24,677,504 P185Q probably damaging Het
Zfp711 T A X: 112,632,694 M474K probably benign Het
Zscan18 T C 7: 12,775,279 probably benign Het
Other mutations in Eapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Eapp APN 12 54692808 missense possibly damaging 0.78
IGL01964:Eapp APN 12 54685935 missense probably damaging 0.99
IGL03323:Eapp APN 12 54673615 missense probably damaging 1.00
IGL03328:Eapp APN 12 54692093 missense probably benign 0.04
R0599:Eapp UTSW 12 54685962 missense probably damaging 1.00
R0939:Eapp UTSW 12 54685949 small deletion probably benign
R1583:Eapp UTSW 12 54685948 nonsense probably null
R1646:Eapp UTSW 12 54685960 nonsense probably null
R1935:Eapp UTSW 12 54673728 missense probably benign 0.01
R1936:Eapp UTSW 12 54673728 missense probably benign 0.01
R5303:Eapp UTSW 12 54692918 missense probably damaging 1.00
R5537:Eapp UTSW 12 54692059 missense probably benign 0.22
R7638:Eapp UTSW 12 54673723 missense probably benign 0.02
R8041:Eapp UTSW 12 54692865 missense probably damaging 1.00
Posted On2015-04-16