Incidental Mutation 'R2280:Ei24'
ID 243049
Institutional Source Beutler Lab
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Name etoposide induced 2.4 mRNA
Synonyms PIG8
MMRRC Submission 040279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2280 (G1)
Quality Score 225
Status Not validated
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 36693635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132270 (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 noncoding transcript
Transcript: ENSMUST00000185124
Predicted Effect probably benign
Transcript: ENSMUST00000184395
SMART Domains Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762

DomainStartEndE-ValueType
Pfam:EI24 58 181 4.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184235
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,654,955 (GRCm39) N2698S probably damaging Het
Ankrd37 T C 8: 46,452,413 (GRCm39) T19A probably benign Het
Anks1b A C 10: 90,802,164 (GRCm39) K353N probably damaging Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3b1 A G 13: 94,664,724 (GRCm39) M888V unknown Het
Apoh T A 11: 108,300,006 (GRCm39) Y218* probably null Het
Arhgef19 G A 4: 140,973,827 (GRCm39) G105S probably benign Het
Brd7 A G 8: 89,069,385 (GRCm39) S437P probably benign Het
Cacna2d4 A T 6: 119,327,002 (GRCm39) Q1089L possibly damaging Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cep170 A T 1: 176,602,071 (GRCm39) V345E probably benign Het
Chaf1b T G 16: 93,688,459 (GRCm39) Y185D probably damaging Het
Clasp1 C T 1: 118,492,913 (GRCm39) P1153S probably benign Het
Clvs2 A T 10: 33,404,496 (GRCm39) I240N probably damaging Het
Cox8c A T 12: 102,865,713 (GRCm39) H30L possibly damaging Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp46a1 T C 12: 108,321,730 (GRCm39) S319P probably damaging Het
Dcdc5 G A 2: 106,202,867 (GRCm39) noncoding transcript Het
Ddx4 T C 13: 112,757,190 (GRCm39) I377V probably benign Het
Dis3l T A 9: 64,225,076 (GRCm39) N407I possibly damaging Het
Dysf A C 6: 84,041,476 (GRCm39) T161P probably damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Fbxl19 A T 7: 127,347,540 (GRCm39) D32V possibly damaging Het
Fgd5 G A 6: 91,965,926 (GRCm39) V562M possibly damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Frem2 A G 3: 53,479,844 (GRCm39) C1950R probably damaging Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Gbx2 A T 1: 89,858,359 (GRCm39) V40D probably damaging Het
Gcc2 C A 10: 58,105,502 (GRCm39) T210K probably benign Het
Gcn1 T A 5: 115,750,789 (GRCm39) M1991K probably damaging Het
Gpr18 T A 14: 122,150,017 (GRCm39) T3S probably benign Het
Herc2 A C 7: 55,787,019 (GRCm39) K1621N possibly damaging Het
Hspg2 A G 4: 137,249,354 (GRCm39) E1300G probably damaging Het
Krtap19-5 C T 16: 88,693,231 (GRCm39) C27Y unknown Het
Lrrc3b A T 14: 15,358,076 (GRCm38) L177M probably damaging Het
Mthfd1 T C 12: 76,327,266 (GRCm39) I118T probably benign Het
Ncoa4-ps A G 12: 119,226,573 (GRCm39) noncoding transcript Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Npy1r C T 8: 67,156,711 (GRCm39) L44F possibly damaging Het
Or10aa1 C A 1: 173,870,087 (GRCm39) S190R probably benign Het
Pcx C A 19: 4,654,571 (GRCm39) R328S probably damaging Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Pum1 A T 4: 130,493,322 (GRCm39) I696F probably damaging Het
Pxdn T C 12: 30,034,905 (GRCm39) V254A probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rsph4a A T 10: 33,787,595 (GRCm39) I584L probably benign Het
Scamp5 A G 9: 57,352,722 (GRCm39) V149A probably benign Het
Sike1 A G 3: 102,904,694 (GRCm39) H134R possibly damaging Het
Slc12a9 A G 5: 137,330,474 (GRCm39) L77P probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Taar7f G A 10: 23,925,417 (GRCm39) A4T probably benign Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tpsg1 C T 17: 25,593,016 (GRCm39) R94C probably damaging Het
Utp20 A T 10: 88,661,365 (GRCm39) probably null Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Zfp12 A G 5: 143,231,248 (GRCm39) Y525C probably damaging Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging Het
Zfyve26 T A 12: 79,321,814 (GRCm39) Q935L probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCATCTACTGCCCTCCATGG -3'
(R):5'- CCTGGAGGAAAATACTTAGAAATTCAG -3'

Sequencing Primer
(F):5'- GCCTGAATTGAGAAAAATGCCTC -3'
(R):5'- TTCAGAAGTGAAGAGATGTGAGGC -3'
Posted On 2014-10-16