Incidental Mutation 'IGL03328:Eapp'
ID 416723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eapp
Ensembl Gene ENSMUSG00000054302
Gene Name E2F-associated phosphoprotein
Synonyms 1810011O16Rik, EAPP
Accession Numbers
Essential gene? Probably essential (E-score: 0.902) question?
Stock # IGL03328
Quality Score
Status
Chromosome 12
Chromosomal Location 54717125-54742682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54738878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 87 (S87P)
Ref Sequence ENSEMBL: ENSMUSP00000124699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067272] [ENSMUST00000110713] [ENSMUST00000160085] [ENSMUST00000161592] [ENSMUST00000162106] [ENSMUST00000163433]
AlphaFold Q5BU09
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: S87P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: S87P

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 benign
Transcript: ENSMUST00000160085
AA Change: S87P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: S87P

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: S87P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: S87P

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 benign
Transcript: ENSMUST00000162106
SMART Domains Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302

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: S87P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: S87P

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,211,355 (GRCm39) M1556L probably benign Het
Aicda T G 6: 122,539,396 (GRCm39) D187E probably benign Het
Arfgap3 A C 15: 83,227,282 (GRCm39) F43L probably damaging Het
AW551984 T C 9: 39,508,412 (GRCm39) E368G probably damaging Het
Bbs4 T C 9: 59,251,401 (GRCm39) E33G probably damaging Het
Bcas1 T A 2: 170,208,316 (GRCm39) K437* probably null Het
Brwd1 A T 16: 95,803,925 (GRCm39) W2082R probably damaging Het
Card6 A T 15: 5,134,927 (GRCm39) probably benign Het
Cd200r4 A G 16: 44,653,882 (GRCm39) I226M possibly damaging Het
Cep57l1 T C 10: 41,619,148 (GRCm39) E73G probably damaging Het
Chaf1a T G 17: 56,370,374 (GRCm39) F613C probably damaging Het
Clybl G T 14: 122,639,406 (GRCm39) K323N probably damaging Het
Coa7 A G 4: 108,195,479 (GRCm39) D136G probably damaging Het
Col5a2 C A 1: 45,415,306 (GRCm39) V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,993 (GRCm39) probably benign Het
Cyp4f17 T G 17: 32,739,600 (GRCm39) M174R probably damaging Het
Dnah10 A T 5: 124,831,354 (GRCm39) D794V probably benign Het
Efnb3 A G 11: 69,448,031 (GRCm39) I137T probably damaging Het
Eif4e T A 3: 138,259,488 (GRCm39) probably benign Het
Fam83b T A 9: 76,400,324 (GRCm39) I260L probably benign Het
Fras1 A G 5: 96,929,619 (GRCm39) T4008A probably damaging Het
Fut8 A T 12: 77,412,003 (GRCm39) R118W probably damaging Het
Glt1d1 A C 5: 127,734,183 (GRCm39) D119A probably benign Het
Gm3727 T A 14: 7,261,685 (GRCm38) *206C probably null Het
Gmip G A 8: 70,264,261 (GRCm39) V174M possibly damaging Het
Gtf2ird1 A G 5: 134,417,983 (GRCm39) probably null Het
Haao C T 17: 84,154,078 (GRCm39) C23Y probably damaging Het
Hip1 A T 5: 135,453,728 (GRCm39) V400E probably damaging Het
Keg1 A G 19: 12,696,461 (GRCm39) N215S probably damaging Het
Lss T G 10: 76,376,785 (GRCm39) I334S probably damaging Het
Lyn A C 4: 3,745,327 (GRCm39) E77D probably benign Het
Myo3a A G 2: 22,468,210 (GRCm39) E1426G probably benign Het
Ncapg2 A G 12: 116,403,677 (GRCm39) E863G possibly damaging Het
Ncl T C 1: 86,280,319 (GRCm39) Y496C probably damaging Het
Nefm A T 14: 68,358,739 (GRCm39) S432T probably benign Het
Nipsnap1 A G 11: 4,834,096 (GRCm39) Y95C possibly damaging Het
Npc1l1 C A 11: 6,168,643 (GRCm39) E913* probably null Het
Nup205 T C 6: 35,209,349 (GRCm39) L1552P probably damaging Het
Or2t46 A G 11: 58,472,539 (GRCm39) N290D probably damaging Het
Or4c112 G T 2: 88,854,199 (GRCm39) Y49* probably null Het
Or52h7 T A 7: 104,213,677 (GRCm39) V83D probably damaging Het
Or7c70 C T 10: 78,683,201 (GRCm39) E183K probably benign Het
Osm A C 11: 4,188,426 (GRCm39) I18L unknown Het
Otoa T A 7: 120,710,217 (GRCm39) S254R probably damaging Het
Parp1 T C 1: 180,427,155 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,551 (GRCm39) I1010V probably benign Het
Peli2 A T 14: 48,490,032 (GRCm39) probably null Het
Pkd1l3 T G 8: 110,388,738 (GRCm39) probably benign Het
Pkhd1 A G 1: 20,151,524 (GRCm39) probably benign Het
Polg2 A C 11: 106,659,163 (GRCm39) V450G probably benign Het
Potegl A T 2: 23,102,817 (GRCm39) Y185F possibly damaging Het
Ptpn13 A T 5: 103,664,214 (GRCm39) T401S probably benign Het
Rgs22 C T 15: 36,043,350 (GRCm39) probably null Het
Rttn T G 18: 89,061,152 (GRCm39) S1107A probably benign Het
Scn5a G T 9: 119,366,702 (GRCm39) N328K probably benign Het
Sned1 G A 1: 93,217,089 (GRCm39) A1325T probably benign Het
St8sia4 T A 1: 95,588,595 (GRCm39) E80V probably benign Het
Stard7 T C 2: 127,134,176 (GRCm39) probably benign Het
Suco G T 1: 161,647,990 (GRCm39) P1099T probably damaging Het
Syn2 G T 6: 115,251,221 (GRCm39) C459F probably damaging Het
Tas2r117 A C 6: 132,780,041 (GRCm39) I60L probably benign Het
Tomm70a T C 16: 56,965,150 (GRCm39) C445R probably damaging Het
Tpsab1 T A 17: 25,564,102 (GRCm39) D87V probably benign Het
Trgc4 A G 13: 19,536,416 (GRCm39) Y158C unknown Het
Trpm6 A T 19: 18,815,446 (GRCm39) E1177D possibly damaging Het
Vmn2r71 A T 7: 85,273,499 (GRCm39) D771V probably damaging Het
Vmn2r93 A T 17: 18,525,220 (GRCm39) T293S probably damaging Het
Other mutations in Eapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Eapp APN 12 54,739,593 (GRCm39) missense possibly damaging 0.78
IGL01964:Eapp APN 12 54,732,720 (GRCm39) missense probably damaging 0.99
IGL02591:Eapp APN 12 54,739,607 (GRCm39) missense probably damaging 1.00
IGL03323:Eapp APN 12 54,720,400 (GRCm39) missense probably damaging 1.00
R0599:Eapp UTSW 12 54,732,747 (GRCm39) missense probably damaging 1.00
R0939:Eapp UTSW 12 54,732,734 (GRCm39) small deletion probably benign
R1583:Eapp UTSW 12 54,732,733 (GRCm39) nonsense probably null
R1646:Eapp UTSW 12 54,732,745 (GRCm39) nonsense probably null
R1935:Eapp UTSW 12 54,720,513 (GRCm39) missense probably benign 0.01
R1936:Eapp UTSW 12 54,720,513 (GRCm39) missense probably benign 0.01
R5303:Eapp UTSW 12 54,739,703 (GRCm39) missense probably damaging 1.00
R5537:Eapp UTSW 12 54,738,844 (GRCm39) missense probably benign 0.22
R7638:Eapp UTSW 12 54,720,508 (GRCm39) missense probably benign 0.02
R8041:Eapp UTSW 12 54,739,650 (GRCm39) missense probably damaging 1.00
R8911:Eapp UTSW 12 54,739,440 (GRCm39) intron probably benign
R9294:Eapp UTSW 12 54,737,061 (GRCm39) missense unknown
R9733:Eapp UTSW 12 54,739,741 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02