Incidental Mutation 'IGL02112:Ei24'
ID280217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Nameetoposide induced 2.4 mRNA
SynonymsPIG8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02112
Quality Score
Status
Chromosome9
Chromosomal Location36779159-36797393 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36782342 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 305 (Y305N)
Ref Sequence ENSEMBL: ENSMUSP00000132270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]
Predicted Effect probably damaging
Transcript: ENSMUST00000115086
AA Change: Y305N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: Y305N

DomainStartEndE-ValueType
Pfam:EI24 61 290 2.5e-48 PFAM
low complexity region 331 339 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163192
AA Change: Y305N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: Y305N

DomainStartEndE-ValueType
low complexity region 55 71 N/A INTRINSIC
Pfam:EI24 77 289 3.8e-24 PFAM
low complexity region 331 339 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183430
Predicted Effect probably benign
Transcript: ENSMUST00000184235
Predicted Effect probably benign
Transcript: ENSMUST00000184395
SMART Domains Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762

DomainStartEndE-ValueType
Pfam:EI24 58 181 4.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185124
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 putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a targeted allele do not survive to the neonatal stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik G T 11: 76,003,388 C197F probably benign Het
Adam34 T A 8: 43,651,138 Y490F possibly damaging Het
Appbp2 A T 11: 85,201,620 H271Q probably benign Het
Arhgap17 A T 7: 123,318,417 D181E possibly damaging Het
Arhgap25 T A 6: 87,467,937 Y286F possibly damaging Het
Atf2 T C 2: 73,819,037 K352R probably damaging Het
Bdp1 G A 13: 100,037,800 T2076I probably benign Het
C1s2 A G 6: 124,625,308 V642A probably benign Het
Cldn18 T A 9: 99,698,075 T170S probably benign Het
Cntnap5c T A 17: 58,313,858 H977Q probably benign Het
Col15a1 T A 4: 47,253,985 probably benign Het
Csmd1 A T 8: 16,081,705 Y1669N probably benign Het
Csmd3 A C 15: 48,313,869 S424R possibly damaging Het
Cyp4a31 A G 4: 115,570,983 D306G probably damaging Het
Dusp27 C A 1: 166,099,671 E791* probably null Het
E2f2 A G 4: 136,192,834 T377A probably benign Het
Edil3 A G 13: 89,180,255 D276G probably damaging Het
Erbin T C 13: 103,862,336 N181D probably benign Het
Gli3 A G 13: 15,662,514 Q494R probably damaging Het
Gm16519 T C 17: 70,929,296 I80T probably damaging Het
Haus8 T A 8: 71,255,561 E163V probably damaging Het
Hephl1 G T 9: 15,081,815 probably benign Het
Hnrnph3 A G 10: 63,016,405 probably null Het
Mast2 A T 4: 116,319,764 C437S probably damaging Het
Mef2a A C 7: 67,264,872 S91R probably damaging Het
Mfge8 A T 7: 79,143,340 V126D probably benign Het
Nrd1 A G 4: 109,027,432 probably benign Het
Olfr77 T A 9: 19,920,525 N105K possibly damaging Het
Panx2 A G 15: 89,069,569 T576A probably benign Het
Per3 T C 4: 151,029,183 Y306C probably benign Het
Ppm1h G A 10: 122,802,400 G192R possibly damaging Het
Prss22 T C 17: 23,993,971 E264G probably damaging Het
Rasa3 A G 8: 13,585,042 probably benign Het
Rpl7a-ps8 C A 7: 19,954,060 probably benign Het
Rundc1 A G 11: 101,433,599 D377G probably benign Het
Sh3bp1 T C 15: 78,905,884 probably null Het
Sobp A G 10: 43,021,877 S571P probably benign Het
Syce1 C A 7: 140,779,632 M114I probably benign Het
Tdrd6 G A 17: 43,629,351 R269W probably damaging Het
Tmprss13 T C 9: 45,339,404 S408P probably damaging Het
Tonsl T C 15: 76,633,402 T706A probably benign Het
Tpcn2 A G 7: 145,256,792 S603P probably benign Het
Trmt12 A T 15: 58,872,816 Q21L probably damaging Het
Vmn1r68 C T 7: 10,527,860 G104S probably damaging Het
Vmn2r82 T C 10: 79,395,999 W611R probably benign Het
Vmn2r90 C A 17: 17,712,203 T124K probably damaging Het
Vmn2r99 A G 17: 19,380,232 E506G probably null Het
Other mutations in Ei24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Ei24 APN 9 36784478 nonsense probably null
IGL00954:Ei24 APN 9 36789870 missense probably damaging 0.96
IGL01336:Ei24 APN 9 36786481 critical splice donor site probably null
IGL01940:Ei24 APN 9 36782391 missense probably damaging 1.00
IGL02328:Ei24 APN 9 36785531 critical splice donor site probably null
IGL03251:Ei24 APN 9 36780109 makesense probably null
PIT4378001:Ei24 UTSW 9 36786024 missense probably damaging 1.00
R0673:Ei24 UTSW 9 36788255 critical splice acceptor site probably null
R2047:Ei24 UTSW 9 36780163 missense probably benign 0.03
R2280:Ei24 UTSW 9 36782339 critical splice donor site probably null
R4863:Ei24 UTSW 9 36784565 missense probably damaging 1.00
R5125:Ei24 UTSW 9 36782446 unclassified probably benign
R5999:Ei24 UTSW 9 36793307 missense probably benign 0.06
R7515:Ei24 UTSW 9 36789915 missense probably damaging 1.00
Posted On2015-04-16