Incidental Mutation 'IGL00916:Eapp'
ID28721
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: 0.887) question?
Stock #IGL00916
Quality Score
Status
Chromosome12
Chromosomal Location54670340-54695897 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54692808 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
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: T75A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: T75A

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 possibly damaging
Transcript: ENSMUST00000160085
AA Change: T75A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302
AA Change: T75A

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: T75A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: T75A

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
AA Change: T75A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: T75A

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: T75A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: T75A

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
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mreg T A 1: 72,164,132 T96S probably benign Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Eapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01964:Eapp APN 12 54685935 missense probably damaging 0.99
IGL02591:Eapp APN 12 54692822 missense probably damaging 1.00
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
Posted On2013-04-17