Incidental Mutation 'IGL02409:Elavl1'
ID292233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elavl1
Ensembl Gene ENSMUSG00000040028
Gene NameELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R)
SynonymsW91709, 2410055N02Rik, Hua, HuR
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02409
Quality Score
Status
Chromosome8
Chromosomal Location4285382-4325413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4289838 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 248 (I248N)
Ref Sequence ENSEMBL: ENSMUSP00000146866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098950] [ENSMUST00000209010]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098950
AA Change: I248N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: I248N

DomainStartEndE-ValueType
RRM 21 94 1.3e-22 SMART
RRM 107 182 1.91e-20 SMART
RRM 245 318 6.15e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000209010
AA Change: I248N

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3' untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation and midgestational lethality due to placental failure resulting from extraembryonic trophoblast defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp4 T A 18: 15,399,725 M104L probably benign Het
Cdkn1a T C 17: 29,098,454 V16A probably benign Het
Celsr2 C A 3: 108,413,955 V514F probably damaging Het
Cmya5 T C 13: 93,090,198 N2794S probably damaging Het
Dnmt1 T C 9: 20,926,497 T281A probably benign Het
Dock2 A T 11: 34,501,204 N840K probably benign Het
Dscam T C 16: 96,819,888 N540S possibly damaging Het
Fam120a A G 13: 48,967,359 V157A probably benign Het
Fcrls G A 3: 87,252,723 P408L probably benign Het
Gpr1 T A 1: 63,183,716 N120I probably damaging Het
Grin2b T A 6: 136,043,908 M132L possibly damaging Het
Herc2 T A 7: 56,220,469 probably null Het
Lrp1b T G 2: 41,445,196 K778T possibly damaging Het
Mapk10 T A 5: 102,928,230 E389D possibly damaging Het
Ms4a7 G T 19: 11,324,443 Y62* probably null Het
Muc5b A G 7: 141,861,338 T2674A possibly damaging Het
Nbeal1 T C 1: 60,329,335 L2613P probably benign Het
Ncapg2 A T 12: 116,420,717 Y266F probably damaging Het
Olfr1215 C T 2: 89,001,910 C126Y possibly damaging Het
Olfr127 T C 17: 37,903,788 Y81H probably damaging Het
Olfr342 T A 2: 36,528,153 V247E probably damaging Het
Olfr512 A G 7: 108,714,159 I269V probably benign Het
Pkd1 T A 17: 24,573,623 I1428N probably benign Het
Ppil4 T C 10: 7,798,564 probably benign Het
Rev3l T C 10: 39,821,148 V547A possibly damaging Het
Rgsl1 T C 1: 153,826,243 K155R possibly damaging Het
Skap2 T C 6: 51,907,958 D234G possibly damaging Het
Sult2a4 C T 7: 13,984,919 W133* probably null Het
Tbc1d2b C T 9: 90,222,352 S579N probably benign Het
Tdrkh T A 3: 94,430,612 probably benign Het
Thumpd2 A T 17: 81,032,688 F377L probably damaging Het
Tmem132d T C 5: 127,784,888 D723G probably damaging Het
Tnfrsf23 A T 7: 143,668,571 L168Q probably damaging Het
Ttn T C 2: 76,954,630 T818A unknown Het
Uox A T 3: 146,624,626 D130V probably benign Het
Vmn2r45 T C 7: 8,485,728 Y101C probably benign Het
Wdr1 C T 5: 38,531,110 D161N probably benign Het
Other mutations in Elavl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Elavl1 APN 8 4301699 missense probably damaging 1.00
R0759:Elavl1 UTSW 8 4289815 missense probably damaging 1.00
R2322:Elavl1 UTSW 8 4289802 missense probably damaging 1.00
R4205:Elavl1 UTSW 8 4289851 missense probably damaging 0.99
R4946:Elavl1 UTSW 8 4301752 missense probably benign 0.05
R5009:Elavl1 UTSW 8 4301723 missense probably benign 0.00
R5073:Elavl1 UTSW 8 4301741 missense possibly damaging 0.79
R6614:Elavl1 UTSW 8 4289818 missense probably damaging 1.00
R7200:Elavl1 UTSW 8 4311767 missense probably benign 0.00
R7204:Elavl1 UTSW 8 4311712 missense probably damaging 0.98
R7305:Elavl1 UTSW 8 4325199 unclassified probably benign
R7881:Elavl1 UTSW 8 4311763 missense probably damaging 1.00
R7903:Elavl1 UTSW 8 4301756 missense probably benign 0.28
R8310:Elavl1 UTSW 8 4301786 missense probably damaging 0.99
R8372:Elavl1 UTSW 8 4289664 missense probably damaging 1.00
R8390:Elavl1 UTSW 8 4289623 nonsense probably null
R8534:Elavl1 UTSW 8 4289864 missense probably benign 0.19
R8556:Elavl1 UTSW 8 4295388 missense possibly damaging 0.65
Posted On2015-04-16