Incidental Mutation 'R8556:Elavl1'
ID 660107
Institutional Source Beutler Lab
Gene Symbol Elavl1
Ensembl Gene ENSMUSG00000040028
Gene Name ELAV like RNA binding protein 1
Synonyms HuR, Hua, ELAV (embryonic lethal, abnormal vision)-like 1 (Hu antigen R), 2410055N02Rik, W91709
MMRRC Submission 068519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8556 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 4335382-4375413 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4345388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 202 (S202P)
Ref Sequence ENSEMBL: ENSMUSP00000146866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098950] [ENSMUST00000209010]
AlphaFold P70372
Predicted Effect possibly damaging
Transcript: ENSMUST00000098950
AA Change: S202P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: S202P

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: S202P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl A T 11: 69,904,376 (GRCm39) M148K probably benign Het
Adcy2 T C 13: 68,779,094 (GRCm39) Y982C possibly damaging Het
Adgrl4 T C 3: 151,216,302 (GRCm39) I495T probably damaging Het
Ankfn1 A T 11: 89,332,268 (GRCm39) I426K possibly damaging Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Cdan1 C T 2: 120,553,471 (GRCm39) V971M probably damaging Het
Col6a4 A G 9: 105,944,252 (GRCm39) F1074S probably damaging Het
Crk A G 11: 75,583,347 (GRCm39) K189R probably benign Het
Dennd5b A G 6: 148,895,268 (GRCm39) L1254P probably damaging Het
Dlec1 A G 9: 118,955,289 (GRCm39) T658A probably benign Het
Dock2 T C 11: 34,212,457 (GRCm39) D1228G possibly damaging Het
Dync2h1 T C 9: 7,113,198 (GRCm39) Y209C probably benign Het
Edem3 G A 1: 151,660,586 (GRCm39) V283I possibly damaging Het
Eprs1 G A 1: 185,152,485 (GRCm39) probably null Het
Esp31 A T 17: 38,951,942 (GRCm39) M1L probably benign Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Gm6370 T C 5: 146,430,702 (GRCm39) S296P probably benign Het
Helz2 A G 2: 180,871,350 (GRCm39) V2754A probably damaging Het
Hgsnat C T 8: 26,443,308 (GRCm39) probably null Het
Hoxb6 G T 11: 96,191,543 (GRCm39) R155L probably damaging Het
Igkv6-17 T C 6: 70,348,746 (GRCm39) V39A probably damaging Het
Iqgap1 G A 7: 80,375,787 (GRCm39) L1363F probably damaging Het
Lcor TCA T 19: 41,546,863 (GRCm39) probably null Het
Macf1 A G 4: 123,382,136 (GRCm39) S476P probably damaging Het
Mdh1b A C 1: 63,750,141 (GRCm39) probably null Het
Muc16 T A 9: 18,552,233 (GRCm39) I4687L probably benign Het
Mylk3 T C 8: 86,053,902 (GRCm39) M672V possibly damaging Het
Nbea A G 3: 55,554,807 (GRCm39) F2614L probably benign Het
Or4p8 A T 2: 88,727,382 (GRCm39) C186* probably null Het
Otop3 T A 11: 115,235,782 (GRCm39) D471E probably benign Het
Pds5b G A 5: 150,716,073 (GRCm39) M1077I probably benign Het
Plppr5 T A 3: 117,465,679 (GRCm39) L310Q probably benign Het
Ptpn13 G A 5: 103,707,038 (GRCm39) E1416K probably damaging Het
Ptprj A G 2: 90,271,044 (GRCm39) L1228P probably damaging Het
Rbm12 T C 2: 155,938,481 (GRCm39) D597G probably damaging Het
Ret A G 6: 118,146,149 (GRCm39) F777L probably damaging Het
Rrbp1 A T 2: 143,831,045 (GRCm39) V374D possibly damaging Het
Scin T C 12: 40,127,593 (GRCm39) probably null Het
Serpina1a T A 12: 103,822,229 (GRCm39) K234N probably damaging Het
Snx20 T A 8: 89,356,661 (GRCm39) M52L probably benign Het
Svs6 T C 2: 164,159,485 (GRCm39) S83P possibly damaging Het
Tdp1 T C 12: 99,857,527 (GRCm39) S29P probably benign Het
Tet1 T C 10: 62,675,985 (GRCm39) N697S probably benign Het
Trgc4 A G 13: 19,528,952 (GRCm39) probably benign Het
Trpv3 A G 11: 73,178,291 (GRCm39) I453V probably benign Het
Trrap T C 5: 144,762,747 (GRCm39) F2407L probably benign Het
Tsc22d4 T C 5: 137,745,849 (GRCm39) S158P probably damaging Het
Uaca A T 9: 60,777,923 (GRCm39) K768M probably damaging Het
Wdr20rt G A 12: 65,273,739 (GRCm39) V228I probably benign Het
Zbtb7b T C 3: 89,300,444 (GRCm39) probably null Het
Other mutations in Elavl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Elavl1 APN 8 4,351,699 (GRCm39) missense probably damaging 1.00
IGL02409:Elavl1 APN 8 4,339,838 (GRCm39) missense possibly damaging 0.88
R0759:Elavl1 UTSW 8 4,339,815 (GRCm39) missense probably damaging 1.00
R2322:Elavl1 UTSW 8 4,339,802 (GRCm39) missense probably damaging 1.00
R4205:Elavl1 UTSW 8 4,339,851 (GRCm39) missense probably damaging 0.99
R4946:Elavl1 UTSW 8 4,351,752 (GRCm39) missense probably benign 0.05
R5009:Elavl1 UTSW 8 4,351,723 (GRCm39) missense probably benign 0.00
R5073:Elavl1 UTSW 8 4,351,741 (GRCm39) missense possibly damaging 0.79
R6614:Elavl1 UTSW 8 4,339,818 (GRCm39) missense probably damaging 1.00
R7200:Elavl1 UTSW 8 4,361,767 (GRCm39) missense probably benign 0.00
R7204:Elavl1 UTSW 8 4,361,712 (GRCm39) missense probably damaging 0.98
R7305:Elavl1 UTSW 8 4,375,199 (GRCm39) unclassified probably benign
R7881:Elavl1 UTSW 8 4,361,763 (GRCm39) missense probably damaging 1.00
R7903:Elavl1 UTSW 8 4,351,756 (GRCm39) missense probably benign 0.28
R8310:Elavl1 UTSW 8 4,351,786 (GRCm39) missense probably damaging 0.99
R8372:Elavl1 UTSW 8 4,339,664 (GRCm39) missense probably damaging 1.00
R8390:Elavl1 UTSW 8 4,339,623 (GRCm39) nonsense probably null
R8534:Elavl1 UTSW 8 4,339,864 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- ACAGATTGCTAATAGAGGTGATGAC -3'
(R):5'- CAGAGGGGTTGCCTTTATCC -3'

Sequencing Primer
(F):5'- AGATATGACTGCTTGGATCAGCC -3'
(R):5'- GCCTTTATCCGGTTTGACAAACGG -3'
Posted On 2021-01-18