Incidental Mutation 'IGL01336:Ei24'
ID 74649
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 # IGL01336
Quality Score
Status
Chromosome 9
Chromosomal Location 36690449-36708630 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 36697777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]
AlphaFold Q61070
Predicted Effect probably null
Transcript: ENSMUST00000115086
SMART Domains Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762

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

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 null
Transcript: ENSMUST00000184235
Predicted Effect probably null
Transcript: ENSMUST00000184395
SMART Domains Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762

DomainStartEndE-ValueType
Pfam:EI24 58 181 4.8e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217339
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,386,736 (GRCm39) L599I probably benign Het
Adcyap1 A G 17: 93,511,392 (GRCm39) D122G probably benign Het
Ahr A G 12: 35,553,839 (GRCm39) V760A probably benign Het
Ankrd7 T C 6: 18,868,277 (GRCm39) V133A probably benign Het
Bsn A G 9: 107,988,984 (GRCm39) V2256A probably damaging Het
Cblb A G 16: 52,006,592 (GRCm39) K765E probably benign Het
Clmp A G 9: 40,693,906 (GRCm39) *374W probably null Het
Ddc A G 11: 11,796,630 (GRCm39) probably null Het
Dnah10 A G 5: 124,852,576 (GRCm39) Y1878C probably damaging Het
Ikbke A G 1: 131,201,493 (GRCm39) M118T probably damaging Het
Il6st T C 13: 112,616,773 (GRCm39) S107P possibly damaging Het
Map2k6 A G 11: 110,387,237 (GRCm39) Y203C probably damaging Het
Mettl27 C T 5: 134,964,734 (GRCm39) probably benign Het
Mrps14 G A 1: 160,024,565 (GRCm39) W32* probably null Het
Naaa A C 5: 92,412,992 (GRCm39) M208R probably benign Het
Nat2 A G 8: 67,954,193 (GRCm39) Y101C probably damaging Het
Ncoa3 A G 2: 165,896,443 (GRCm39) S449G probably benign Het
Or4e5 A G 14: 52,728,205 (GRCm39) I72T probably damaging Het
Or6z7 T C 7: 6,483,997 (GRCm39) I53V probably benign Het
Phykpl G A 11: 51,490,283 (GRCm39) probably benign Het
Psma5-ps T C 10: 85,150,028 (GRCm39) noncoding transcript Het
Rasgrf1 A T 9: 89,873,583 (GRCm39) M631L probably benign Het
Rgma G A 7: 73,059,066 (GRCm39) V57M possibly damaging Het
Samd4b G T 7: 28,113,388 (GRCm39) D192E probably benign Het
Sesn2 T C 4: 132,226,678 (GRCm39) T139A probably benign Het
Slc30a6 A G 17: 74,715,834 (GRCm39) probably benign Het
Spata31f1e T A 4: 42,793,784 (GRCm39) Q116L possibly damaging Het
Stra8 T C 6: 34,910,123 (GRCm39) Y182H possibly damaging Het
Trim31 C A 17: 37,220,269 (GRCm39) A395E probably damaging Het
Trp53bp2 G T 1: 182,259,148 (GRCm39) R67L probably damaging Het
Trpa1 A C 1: 14,957,104 (GRCm39) probably benign Het
Wdr91 G A 6: 34,886,478 (GRCm39) probably benign Het
Other mutations in Ei24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00862:Ei24 APN 9 36,695,774 (GRCm39) nonsense probably null
IGL00954:Ei24 APN 9 36,701,166 (GRCm39) missense probably damaging 0.96
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 2013-10-07