Incidental Mutation 'R0673:Ei24'
ID61524
Institutional Source Beutler Lab
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Nameetoposide induced 2.4 mRNA
SynonymsPIG8
MMRRC Submission 038858-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0673 (G1)
Quality Score147
Status Not validated
Chromosome9
Chromosomal Location36779159-36797393 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to G at 36788255 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]
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: ENSMUST00000183360
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: ENSMUST00000217339
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik C T 17: 45,733,073 W86* probably null Het
2700049A03Rik C T 12: 71,177,868 P894S probably damaging Het
Adgrg7 A T 16: 56,773,486 N122K possibly damaging Het
Ankrd13d A T 19: 4,273,019 probably null Het
Blm A T 7: 80,499,751 probably null Het
Caml C T 13: 55,631,828 T238M probably damaging Het
Casd1 T A 6: 4,624,440 V411D possibly damaging Het
Cdc25b A G 2: 131,197,262 N516D probably benign Het
Cmya5 A G 13: 93,089,997 I2861T probably damaging Het
Csmd3 A G 15: 47,913,940 L1294P probably damaging Het
Cxxc1 A G 18: 74,218,913 D287G possibly damaging Het
Dgkq T C 5: 108,655,589 H217R probably damaging Het
Disp2 A T 2: 118,790,844 I686F possibly damaging Het
Dnah6 T A 6: 73,123,811 N2003I probably benign Het
Dsc3 T A 18: 19,989,590 R92S probably damaging Het
Fgl1 G T 8: 41,191,624 T281K probably benign Het
Gbp3 A G 3: 142,565,254 T140A probably benign Het
Gtpbp3 A T 8: 71,492,735 I485F probably damaging Het
Harbi1 C T 2: 91,712,535 R114W probably damaging Het
Inmt A C 6: 55,171,227 V139G probably damaging Het
Inpp5j T A 11: 3,501,147 M501L probably benign Het
Jmjd1c A G 10: 67,226,809 N1647S probably damaging Het
Lgals9 A G 11: 78,965,853 F252L probably damaging Het
Lingo3 C A 10: 80,835,784 R104L probably benign Het
Lrrc8c G A 5: 105,607,678 V440M probably damaging Het
Mybpc3 G A 2: 91,120,427 G36D probably damaging Het
Ncapd3 T A 9: 27,087,477 N1254K probably benign Het
Neb A G 2: 52,256,124 V2947A possibly damaging Het
Nudt12 A T 17: 59,007,622 probably null Het
Olfr140 A C 2: 90,052,252 M24R probably benign Het
Olfr167 A G 16: 19,515,396 M80T probably damaging Het
Otop1 T C 5: 38,287,948 V150A possibly damaging Het
Prr14l C T 5: 32,828,915 D1079N probably benign Het
Rasal1 A G 5: 120,670,384 T494A probably benign Het
Sacs A G 14: 61,210,215 K3237E possibly damaging Het
Sh3d19 T C 3: 86,106,973 S415P probably benign Het
Sypl A T 12: 32,965,421 T40S probably damaging Het
Tg A T 15: 66,741,484 probably null Het
Tmed8 A G 12: 87,174,104 V236A probably damaging Het
Vmn1r33 T C 6: 66,611,799 Y257C probably damaging Het
Yme1l1 T C 2: 23,168,288 F144S probably benign 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
IGL02112:Ei24 APN 9 36782342 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GCTCAAAGATAAAAGACAATTCACGGAAACA -3'
(R):5'- ACAGAGAGACAGACACACATAACAAAATAACA -3'

Sequencing Primer
(F):5'- ACAATTCACGGAAACAGTTGAG -3'
(R):5'- gtagcaaacacagtaagccatc -3'
Posted On2013-07-30