Incidental Mutation 'R9099:Ei24'
ID 691548
Institutional Source Beutler Lab
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Name etoposide induced 2.4 mRNA
Synonyms PIG8
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9099 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 36690449-36708630 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36697270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 153 (F153L)
Ref Sequence ENSEMBL: ENSMUSP00000110738 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192] [ENSMUST00000184395]
AlphaFold Q61070
Predicted Effect probably damaging
Transcript: ENSMUST00000115086
AA Change: F153L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: F153L

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: F153L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: F153L

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 probably damaging
Transcript: ENSMUST00000184235
AA Change: F145L

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000184395
AA Change: F153L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139150
Gene: ENSMUSG00000062762
AA Change: F153L

DomainStartEndE-ValueType
Pfam:EI24 58 181 4.8e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (61/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,871,708 (GRCm39) M90K probably damaging Het
Actn2 T C 13: 12,303,516 (GRCm39) D428G probably damaging Het
Arrb1 T C 7: 99,243,836 (GRCm39) V262A probably damaging Het
Bok A G 1: 93,622,661 (GRCm39) I102V Het
C87436 T A 6: 86,439,567 (GRCm39) F419L probably damaging Het
Capn15 A G 17: 26,192,141 (GRCm39) C34R probably benign Het
Ccdc8 T A 7: 16,728,800 (GRCm39) Y96* probably null Het
Cd274 T A 19: 29,357,771 (GRCm39) C154* probably null Het
Cfap251 A G 5: 123,418,082 (GRCm39) probably benign Het
Ckap4 A T 10: 84,369,402 (GRCm39) L110Q probably damaging Het
Col26a1 A T 5: 136,777,202 (GRCm39) D335E probably benign Het
Crybg1 C T 10: 43,874,844 (GRCm39) V755I probably benign Het
Dhx38 A T 8: 110,282,783 (GRCm39) Y628N probably damaging Het
Dnah12 A T 14: 26,492,325 (GRCm39) K1155M probably benign Het
Erg T A 16: 95,178,188 (GRCm39) E246D probably benign Het
Exoc6b T C 6: 84,982,000 (GRCm39) N99D possibly damaging Het
Fam222b G T 11: 78,046,020 (GRCm39) R527L probably damaging Het
Fam83h T C 15: 75,875,135 (GRCm39) Y734C probably damaging Het
Fbxo43 T C 15: 36,162,619 (GRCm39) E196G possibly damaging Het
Gata5 G A 2: 179,976,131 (GRCm39) P11L possibly damaging Het
Gbp3 A T 3: 142,271,048 (GRCm39) S151C probably benign Het
Gli3 T C 13: 15,901,320 (GRCm39) L1569P probably damaging Het
Helz G A 11: 107,523,041 (GRCm39) V742M probably damaging Het
Ifi27l2b A T 12: 103,418,114 (GRCm39) N175K unknown Het
Itga1 A T 13: 115,185,856 (GRCm39) Y49N probably damaging Het
Kcnk2 T C 1: 188,991,072 (GRCm39) T167A probably damaging Het
Kirrel2 T A 7: 30,147,642 (GRCm39) T669S probably benign Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrit2 A T 14: 36,790,812 (GRCm39) T164S possibly damaging Het
Lrriq1 A G 10: 103,051,864 (GRCm39) V296A probably damaging Het
Malsu1 C T 6: 49,050,731 (GRCm39) probably benign Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Nfs1 C T 2: 155,968,934 (GRCm39) G380E probably damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Nsmaf CAAACTTTTAAACTT CAAACTT 4: 6,416,543 (GRCm39) probably null Het
Nup98 T A 7: 101,844,173 (GRCm39) N54I probably damaging Het
Or7g21 C T 9: 19,032,890 (GRCm39) P210L probably benign Het
Or8g22 A T 9: 38,958,026 (GRCm39) C230S probably benign Het
Or8g53 A G 9: 39,683,514 (GRCm39) I194T Het
Otoa T A 7: 120,739,055 (GRCm39) F755I probably benign Het
P4htm A T 9: 108,460,911 (GRCm39) M187K probably benign Het
Phldb3 C T 7: 24,323,727 (GRCm39) R453C probably benign Het
Pkd1l1 C T 11: 8,922,986 (GRCm39) A94T Het
Pkp1 A G 1: 135,805,429 (GRCm39) F669S probably benign Het
Prl8a2 C G 13: 27,536,793 (GRCm39) Y138* probably null Het
Prl8a2 T A 13: 27,536,794 (GRCm39) Y139N probably benign Het
Rtn4r T A 16: 17,969,068 (GRCm39) N165K probably benign Het
Scaper G T 9: 55,669,616 (GRCm39) D353E probably damaging Het
Scn4a G T 11: 106,211,000 (GRCm39) D1672E probably damaging Het
She A G 3: 89,739,078 (GRCm39) S90G probably benign Het
Shmt2 A T 10: 127,355,962 (GRCm39) D130E possibly damaging Het
Slc2a12 T A 10: 22,569,923 (GRCm39) I538K possibly damaging Het
Snx29 T A 16: 11,478,435 (GRCm39) W322R probably damaging Het
Spp1 A G 5: 104,588,387 (GRCm39) D263G probably benign Het
Srek1ip1 T C 13: 104,973,964 (GRCm39) S124P possibly damaging Het
Tcp10b C T 17: 13,280,656 (GRCm39) probably benign Het
Thap12 T C 7: 98,364,600 (GRCm39) F256S probably damaging Het
Tpte T C 8: 22,845,497 (GRCm39) Y516H Het
Trem1 C A 17: 48,544,271 (GRCm39) Q99K possibly damaging Het
Umodl1 C T 17: 31,178,147 (GRCm39) P41L probably benign Het
Upp2 T C 2: 58,457,542 (GRCm39) probably null Het
Zfand1 A T 3: 10,406,148 (GRCm39) M181K probably damaging Het
Zfp292 T C 4: 34,809,228 (GRCm39) E1277G possibly damaging Het
Zfp458 G T 13: 67,405,696 (GRCm39) P248T probably damaging Het
Zfp667 T A 7: 6,308,322 (GRCm39) M330K probably benign Het
Zfp827 A G 8: 79,917,107 (GRCm39) T561A Het
Zfp947 C T 17: 22,364,855 (GRCm39) G273D 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
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
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'- CTGTCTCAGTAACCCAAGACAG -3'
(R):5'- TCAGATAAGAGCTGTGCCCAG -3'

Sequencing Primer
(F):5'- TCTCAGTAACCCAAGACAGTAATTTC -3'
(R):5'- GCTGTGCCCAGAATATGAAGC -3'
Posted On 2021-12-30