Incidental Mutation 'IGL00862:Ei24'
ID 10456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Name etoposide induced 2.4 mRNA
Synonyms PIG8
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00862
Quality Score
Status
Chromosome 9
Chromosomal Location 36690449-36708630 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 36695774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 239 (W239*)
Ref Sequence ENSEMBL: ENSMUSP00000132270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]
AlphaFold Q61070
Predicted Effect probably null
Transcript: ENSMUST00000115086
AA Change: W239*
SMART Domains Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: W239*

DomainStartEndE-ValueType
Pfam:EI24 61 290 2.5e-48 PFAM
low complexity region 331 339 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000163192
AA Change: W239*
SMART Domains Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: W239*

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 noncoding transcript
Transcript: ENSMUST00000185124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217339
Predicted Effect probably benign
Transcript: ENSMUST00000184395
SMART Domains Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762

DomainStartEndE-ValueType
Pfam:EI24 58 181 4.8e-19 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 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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,844,374 (GRCm39) T886A possibly damaging Het
Clca3a1 T A 3: 144,730,332 (GRCm39) N171I possibly damaging Het
Eef1b2 G A 1: 63,217,665 (GRCm39) G91R probably damaging Het
Fut10 G T 8: 31,725,733 (GRCm39) V163F probably damaging Het
Msh4 T A 3: 153,589,372 (GRCm39) D431V possibly damaging Het
Nt5el T A 13: 105,255,192 (GRCm39) F424L probably damaging Het
Ntrk3 A T 7: 77,896,925 (GRCm39) V704D probably damaging Het
Prune2 A C 19: 17,096,713 (GRCm39) H739P probably benign Het
Stra8 T A 6: 34,914,998 (GRCm39) N233K probably benign Het
Trpm6 A G 19: 18,804,892 (GRCm39) Y948C probably damaging Het
Xirp2 A G 2: 67,347,247 (GRCm39) I3163V probably benign Het
Zfat C T 15: 68,130,512 (GRCm39) probably null Het
Zfp53 T A 17: 21,729,360 (GRCm39) H464Q probably benign Het
Zfp760 C A 17: 21,941,265 (GRCm39) Q147K probably benign Het
Other mutations in Ei24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Ei24 APN 9 36,701,166 (GRCm39) missense probably damaging 0.96
IGL01336:Ei24 APN 9 36,697,777 (GRCm39) critical splice donor site probably null
IGL01940:Ei24 APN 9 36,693,687 (GRCm39) missense probably damaging 1.00
IGL02112:Ei24 APN 9 36,693,638 (GRCm39) missense probably damaging 0.99
IGL02328:Ei24 APN 9 36,696,827 (GRCm39) critical splice donor site probably null
IGL03251:Ei24 APN 9 36,691,405 (GRCm39) makesense probably null
PIT4378001:Ei24 UTSW 9 36,697,320 (GRCm39) missense probably damaging 1.00
R0673:Ei24 UTSW 9 36,699,551 (GRCm39) critical splice acceptor site probably null
R2047:Ei24 UTSW 9 36,691,459 (GRCm39) missense probably benign 0.03
R2280:Ei24 UTSW 9 36,693,635 (GRCm39) critical splice donor site probably null
R4863:Ei24 UTSW 9 36,695,861 (GRCm39) missense probably damaging 1.00
R5125:Ei24 UTSW 9 36,693,742 (GRCm39) unclassified probably benign
R5999:Ei24 UTSW 9 36,704,603 (GRCm39) missense probably benign 0.06
R7515:Ei24 UTSW 9 36,701,211 (GRCm39) missense probably damaging 1.00
R8366:Ei24 UTSW 9 36,697,800 (GRCm39) missense possibly damaging 0.92
R8836:Ei24 UTSW 9 36,701,498 (GRCm39) missense
R9099:Ei24 UTSW 9 36,697,270 (GRCm39) missense probably damaging 1.00
R9156:Ei24 UTSW 9 36,697,327 (GRCm39) missense probably damaging 0.99
R9331:Ei24 UTSW 9 36,701,217 (GRCm39) missense possibly damaging 0.90
R9405:Ei24 UTSW 9 36,694,137 (GRCm39) missense possibly damaging 0.69
Posted On 2012-12-06