Incidental Mutation 'IGL01583:Elavl1'
ID91428
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 #IGL01583
Quality Score
Status
Chromosome8
Chromosomal Location4285382-4325413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 4301699 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 139 (V139E)
Ref Sequence ENSEMBL: ENSMUSP00000146866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098950] [ENSMUST00000209010]
Predicted Effect probably damaging
Transcript: ENSMUST00000098950
AA Change: V139E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: V139E

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 probably damaging
Transcript: ENSMUST00000209010
AA Change: V139E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,296,409 M329K possibly damaging Het
Abce1 G A 8: 79,693,447 T300M probably damaging Het
Acap1 G A 11: 69,881,677 S536L probably damaging Het
Adcy5 C A 16: 35,283,513 probably benign Het
Ap2b1 G T 11: 83,324,611 R127L possibly damaging Het
Asxl3 T G 18: 22,516,597 S548A probably benign Het
Atm G A 9: 53,484,247 probably benign Het
Cep250 T C 2: 155,976,149 V807A probably damaging Het
Ces1g T A 8: 93,306,959 Y445F probably damaging Het
Cnksr3 A G 10: 7,120,512 Y241H probably benign Het
Col9a1 T C 1: 24,185,144 S136P unknown Het
Cux2 C A 5: 121,874,107 G422W probably damaging Het
Cyp1a2 A T 9: 57,682,372 M53K probably benign Het
Ddx20 T C 3: 105,686,670 D123G probably damaging Het
Dock4 T A 12: 40,810,467 L1284* probably null Het
Dpp9 A C 17: 56,211,666 L46R probably benign Het
Fndc3b T C 3: 27,428,995 Y1018C probably damaging Het
Fubp1 A G 3: 152,215,624 N78D possibly damaging Het
Fubp3 C T 2: 31,611,743 probably benign Het
Gbx2 C A 1: 89,928,837 R277L probably damaging Het
Gm128 T C 3: 95,240,783 R67G possibly damaging Het
Gpc2 T A 5: 138,275,530 R469W probably damaging Het
Ifi30 G A 8: 70,764,762 probably benign Het
Kbtbd4 T C 2: 90,905,908 S88P probably damaging Het
Kif23 A T 9: 61,935,468 Y216N probably damaging Het
Lgals4 A G 7: 28,841,548 D299G probably damaging Het
Lmx1b A G 2: 33,569,059 S161P probably benign Het
Lrcol1 T A 5: 110,354,578 S107T probably benign Het
Lrrc28 A T 7: 67,545,475 probably null Het
Ncoa4 T C 14: 32,172,927 V42A probably benign Het
Nkd2 C T 13: 73,821,480 S277N probably benign Het
Nlrp2 A T 7: 5,337,770 L15Q probably damaging Het
Nynrin T G 14: 55,870,511 L1025R probably damaging Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1134 G T 2: 87,656,413 C169* probably null Het
Piwil4 A T 9: 14,734,487 F152I probably damaging Het
Plod3 T C 5: 136,996,148 S705P probably benign Het
Ppp2r2c T A 5: 36,868,822 M1K probably null Het
Rgs19 T C 2: 181,689,453 E129G probably damaging Het
Rpap2 T A 5: 107,620,195 S223T probably damaging Het
Shox2 T C 3: 66,973,771 probably benign Het
Slc30a4 T C 2: 122,685,217 I370V probably benign Het
Slco1b2 A G 6: 141,663,672 I269M possibly damaging Het
Slco1c1 A G 6: 141,540,067 Y142C probably damaging Het
Slco3a1 T C 7: 74,284,450 N658S probably benign Het
Sos1 A T 17: 80,433,900 S485R probably benign Het
Srpk1 A G 17: 28,606,317 L127P probably damaging Het
St3gal6 T A 16: 58,493,670 probably benign Het
Stk4 T A 2: 164,074,214 M1K probably null Het
Tbc1d12 A G 19: 38,882,732 E313G probably benign Het
Tbk1 A G 10: 121,557,229 I472T probably benign Het
Tiam1 G A 16: 89,789,280 R849W probably damaging Het
Tle3 A G 9: 61,410,025 T381A probably benign Het
Tmem82 T G 4: 141,614,643 T337P probably benign Het
Tmprss15 T C 16: 79,071,261 T220A probably benign Het
Ung A G 5: 114,137,308 K242E possibly damaging Het
Vmn1r211 A T 13: 22,852,401 M32K probably benign Het
Vps13d T G 4: 145,045,088 D956A probably damaging Het
Wdr64 T A 1: 175,767,156 probably null Het
Other mutations in Elavl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02409:Elavl1 APN 8 4289838 missense possibly damaging 0.88
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
Posted On2013-12-09