Incidental Mutation 'R8534:Elavl1'
ID 659156
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 068503-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8534 (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 T at 4339864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 239 (N239K)
Ref Sequence ENSEMBL: ENSMUSP00000146866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098950] [ENSMUST00000209010]
AlphaFold P70372
Predicted Effect probably benign
Transcript: ENSMUST00000098950
AA Change: N239K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: N239K

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 benign
Transcript: ENSMUST00000209010
AA Change: N239K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A C 2: 19,545,153 (GRCm39) L100R probably damaging Het
6820408C15Rik A G 2: 152,283,182 (GRCm39) D282G probably damaging Het
Abcb11 G T 2: 69,154,190 (GRCm39) N125K possibly damaging Het
Acbd7 A T 2: 3,341,750 (GRCm39) D71V probably damaging Het
Adgrb1 A T 15: 74,415,357 (GRCm39) T646S probably damaging Het
Adgrv1 A G 13: 81,534,887 (GRCm39) Y5793H probably benign Het
Agmo A G 12: 37,302,538 (GRCm39) D125G probably damaging Het
Ahrr A G 13: 74,368,799 (GRCm39) S125P probably damaging Het
B020011L13Rik C A 1: 117,729,034 (GRCm39) H180Q probably benign Het
Cbfa2t3 T C 8: 123,365,653 (GRCm39) D219G probably damaging Het
Ccdc187 A G 2: 26,165,577 (GRCm39) S860P possibly damaging Het
Ceacam5 A T 7: 17,484,671 (GRCm39) Q471L probably benign Het
Cyp2c54 A C 19: 40,036,030 (GRCm39) D293E probably damaging Het
Dnah1 G T 14: 31,023,805 (GRCm39) N962K probably benign Het
Dst C T 1: 34,229,388 (GRCm39) T2002I probably benign Het
Elmod3 A G 6: 72,543,667 (GRCm39) F375L probably benign Het
G6pc2 T A 2: 69,050,469 (GRCm39) N31K probably benign Het
Ggnbp2 C T 11: 84,728,815 (GRCm39) probably null Het
Gm6569 G T 15: 73,711,673 (GRCm39) probably benign Het
Insig1 C T 5: 28,280,116 (GRCm39) S236L probably damaging Het
Itih4 A T 14: 30,622,979 (GRCm39) N882I probably benign Het
Kmt5a C A 5: 124,598,635 (GRCm39) D309E probably benign Het
Kndc1 C A 7: 139,503,669 (GRCm39) T991N probably benign Het
Lingo1 T A 9: 56,528,353 (GRCm39) T79S probably benign Het
Myh4 A T 11: 67,134,335 (GRCm39) E330V probably benign Het
Nlrx1 A G 9: 44,174,070 (GRCm39) V377A probably benign Het
Npy5r C A 8: 67,134,688 (GRCm39) G35V probably benign Het
Or5b102 T A 19: 13,041,432 (GRCm39) I219N probably damaging Het
Or7g33 C T 9: 19,448,605 (GRCm39) G207D possibly damaging Het
Pabpn1l T C 8: 123,349,358 (GRCm39) T20A probably benign Het
Pcf11 A G 7: 92,302,432 (GRCm39) V1226A probably benign Het
Per2 G A 1: 91,351,659 (GRCm39) T949M probably benign Het
Phc1 G A 6: 122,315,539 (GRCm39) probably benign Het
Pias2 A G 18: 77,185,083 (GRCm39) I55V possibly damaging Het
Pik3r2 A T 8: 71,227,312 (GRCm39) S104T probably benign Het
Pip T C 6: 41,828,421 (GRCm39) V85A probably benign Het
Pms2 T C 5: 143,860,445 (GRCm39) V86A probably benign Het
Potefam1 G A 2: 111,058,380 (GRCm39) P138S possibly damaging Het
Rab44 A G 17: 29,363,547 (GRCm39) probably null Het
Rrbp1 A G 2: 143,830,095 (GRCm39) S691P probably damaging Het
Ruvbl2 A T 7: 45,079,118 (GRCm39) probably null Het
Setbp1 T C 18: 78,826,542 (GRCm39) D1357G possibly damaging Het
Slc12a6 T A 2: 112,174,312 (GRCm39) I476N probably damaging Het
Slc1a1 C T 19: 28,882,746 (GRCm39) P337S probably damaging Het
Slc35b3 T A 13: 39,128,566 (GRCm39) T174S probably benign Het
Slc4a4 A T 5: 89,283,581 (GRCm39) I467F probably damaging Het
Slc50a1 G A 3: 89,177,710 (GRCm39) probably null Het
Spink14 G A 18: 44,164,079 (GRCm39) probably null Het
Spmap2l T A 5: 77,207,325 (GRCm39) I361N probably damaging Het
Tmem59 T C 4: 107,043,082 (GRCm39) probably null Het
Tnr G A 1: 159,746,585 (GRCm39) E1235K probably benign Het
Trpm6 A T 19: 18,869,459 (GRCm39) R2015S probably benign Het
Tsnaxip1 A G 8: 106,565,370 (GRCm39) E132G probably damaging Het
Vps54 A G 11: 21,227,706 (GRCm39) N93S probably benign Het
Wdr17 T G 8: 55,101,265 (GRCm39) I994L probably benign Het
Zfat G T 15: 68,037,696 (GRCm39) H926Q probably damaging Het
Zfp2 C T 11: 50,791,627 (GRCm39) E139K possibly damaging 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
R8556:Elavl1 UTSW 8 4,345,388 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TTGCTATGGCCATTGCAGC -3'
(R):5'- CTTGAGCATCTCCAGCTCAG -3'

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