Incidental Mutation 'IGL03251:Ei24'
ID414934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ei24
Ensembl Gene ENSMUSG00000062762
Gene Nameetoposide induced 2.4 mRNA
SynonymsPIG8
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03251
Quality Score
Status
Chromosome9
Chromosomal Location36779159-36797393 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 36780109 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 359 (*359R)
Ref Sequence ENSEMBL: ENSMUSP00000132270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115086] [ENSMUST00000163192]
Predicted Effect probably null
Transcript: ENSMUST00000115086
AA Change: *359R
SMART Domains Protein: ENSMUSP00000110738
Gene: ENSMUSG00000062762
AA Change: *359R

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: *359R
SMART Domains Protein: ENSMUSP00000132270
Gene: ENSMUSG00000062762
AA Change: *359R

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: ENSMUST00000183422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185124
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Elk3 A T 10: 93,254,821 probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Mlc1 A T 15: 88,974,731 V117D possibly damaging Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Rrm1 T C 7: 102,457,206 F311L probably damaging Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Tube1 T A 10: 39,134,981 probably benign Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 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
PIT4378001:Ei24 UTSW 9 36786024 missense probably damaging 1.00
R0673:Ei24 UTSW 9 36788255 critical splice acceptor site probably null
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
R7515:Ei24 UTSW 9 36789915 missense probably damaging 1.00
Posted On2016-08-02