Incidental Mutation 'IGL01964:Eapp'
ID 181494
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 # IGL01964
Quality Score
Status
Chromosome 12
Chromosomal Location 54717125-54742682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 54732720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 126 (P126Q)
Ref Sequence ENSEMBL: ENSMUSP00000124232 (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 possibly damaging
Transcript: ENSMUST00000110713
AA Change: P130Q

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106341
Gene: ENSMUSG00000054302
AA Change: P130Q

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
SMART Domains Protein: ENSMUSP00000124699
Gene: ENSMUSG00000054302

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 possibly damaging
Transcript: ENSMUST00000161592
AA Change: P130Q

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000123698
Gene: ENSMUSG00000054302
AA Change: P130Q

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: P126Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124232
Gene: ENSMUSG00000054302
AA Change: P126Q

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 possibly damaging
Transcript: ENSMUST00000163433
AA Change: P130Q

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130251
Gene: ENSMUSG00000054302
AA Change: P130Q

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A C 8: 44,079,798 (GRCm39) I142S probably benign Het
Aknad1 T C 3: 108,685,593 (GRCm39) V579A probably benign Het
Ankrd11 A G 8: 123,616,475 (GRCm39) I2438T probably damaging Het
Cdh11 A G 8: 103,391,375 (GRCm39) V287A probably benign Het
Cdyl2 G A 8: 117,350,768 (GRCm39) S121L probably benign Het
Cyp2e1 A T 7: 140,343,779 (GRCm39) I6F probably damaging Het
Cyp3a16 A T 5: 145,392,372 (GRCm39) D194E probably benign Het
Efr3b A T 12: 4,032,928 (GRCm39) L143Q probably damaging Het
Grin2c C T 11: 115,144,673 (GRCm39) E618K probably damaging Het
Haus3 A T 5: 34,323,405 (GRCm39) Y402N probably benign Het
Iffo1 A G 6: 125,128,364 (GRCm39) D316G probably damaging Het
Kctd19 A T 8: 106,115,157 (GRCm39) M468K probably damaging Het
Kdm4b T A 17: 56,696,256 (GRCm39) probably null Het
Naip6 T A 13: 100,435,238 (GRCm39) probably benign Het
Or5k15 A T 16: 58,709,827 (GRCm39) I252K probably damaging Het
Polr3c T C 3: 96,619,291 (GRCm39) probably benign Het
Poteg A T 8: 27,938,036 (GRCm39) E60V probably damaging Het
Rnd2 T C 11: 101,361,632 (GRCm39) probably null Het
Rufy3 A G 5: 88,762,929 (GRCm39) Q153R probably damaging Het
Shank1 T A 7: 43,975,102 (GRCm39) I399N unknown Het
Sin3a T C 9: 57,014,631 (GRCm39) probably benign Het
Sppl2b T A 10: 80,701,220 (GRCm39) probably null Het
Srgap1 G A 10: 121,640,871 (GRCm39) P665L possibly damaging Het
Srgap2 G T 1: 131,217,316 (GRCm39) Q999K probably benign Het
Tbxas1 G A 6: 39,060,748 (GRCm39) V496I probably benign Het
Vmn1r198 A G 13: 22,538,576 (GRCm39) M21V probably benign Het
Wdr90 T C 17: 26,067,383 (GRCm39) I1479V probably benign Het
Other mutations in Eapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Eapp APN 12 54,739,593 (GRCm39) missense possibly damaging 0.78
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
IGL03328:Eapp APN 12 54,738,878 (GRCm39) missense probably benign 0.04
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 2014-05-07