Incidental Mutation 'R8310:Elavl1'
ID 641325
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 067795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8310 (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 4351786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 110 (I110N)
Ref Sequence ENSEMBL: ENSMUSP00000096549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098950] [ENSMUST00000209010]
AlphaFold P70372
Predicted Effect probably damaging
Transcript: ENSMUST00000098950
AA Change: I110N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: I110N

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: I110N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.9614 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (50/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830005F24Rik T G 13: 48,667,727 (GRCm39) W10G unknown Het
Abca13 A T 11: 9,328,269 (GRCm39) K3447N possibly damaging Het
Agtr1a T G 13: 30,565,745 (GRCm39) V270G probably benign Het
Apob A T 12: 8,059,033 (GRCm39) H2505L probably benign Het
Babam1 T A 8: 71,850,629 (GRCm39) V86D possibly damaging Het
Cacna1s C A 1: 136,015,075 (GRCm39) N654K probably damaging Het
Ccdc146 A T 5: 21,506,469 (GRCm39) probably benign Het
Ccdc8 T C 7: 16,729,326 (GRCm39) S272P probably damaging Het
Cnksr1 T C 4: 133,956,730 (GRCm39) E510G probably damaging Het
Cnot6l A T 5: 96,239,535 (GRCm39) D255E probably benign Het
Ddx1 A C 12: 13,274,280 (GRCm39) probably benign Het
Dyrk1a A G 16: 94,492,650 (GRCm39) T628A probably benign Het
Emilin2 C G 17: 71,562,141 (GRCm39) D954H probably damaging Het
Erich3 C T 3: 154,410,586 (GRCm39) T147I Het
Galnt1 A T 18: 24,404,686 (GRCm39) H341L probably damaging Het
Gm14325 A T 2: 177,473,592 (GRCm39) C497S probably damaging Het
Gm4922 A T 10: 18,659,536 (GRCm39) N395K probably benign Het
Hsd17b2 G A 8: 118,469,155 (GRCm39) C189Y probably damaging Het
Kcnn1 A T 8: 71,305,449 (GRCm39) S254T possibly damaging Het
Lce1l G C 3: 92,757,766 (GRCm39) P31A unknown Het
Lrpprc A G 17: 85,080,524 (GRCm39) Y199H probably damaging Het
Lrrtm3 A T 10: 63,925,487 (GRCm39) probably null Het
Mon2 G T 10: 122,838,688 (GRCm39) A1598E probably damaging Het
Myh3 A T 11: 66,986,833 (GRCm39) probably null Het
Naa11 A T 5: 97,539,737 (GRCm39) D140E probably damaging Het
Nadk2 G A 15: 9,103,420 (GRCm39) R350Q probably benign Het
Npc1 T C 18: 12,326,455 (GRCm39) I1162V probably damaging Het
Or4e1 A G 14: 52,701,280 (GRCm39) M62T probably damaging Het
Or5v1 T C 17: 37,810,148 (GRCm39) I202T probably benign Het
Otogl A T 10: 107,613,461 (GRCm39) N2001K possibly damaging Het
Peg10 ACATCAGGATCC ACATCAGGATCCCCATCAGGATCC 6: 4,756,454 (GRCm39) probably benign Het
Pi4ka A G 16: 17,171,912 (GRCm39) probably null Het
Ppp2r5c A T 12: 110,512,259 (GRCm39) T185S possibly damaging Het
Psd2 A T 18: 36,112,766 (GRCm39) S154C probably damaging Het
Rnasel G A 1: 153,630,734 (GRCm39) V417M possibly damaging Het
Slc35g2 A G 9: 100,434,841 (GRCm39) S277P probably damaging Het
Slc36a2 A T 11: 55,070,158 (GRCm39) W140R possibly damaging Het
Slc6a12 A G 6: 121,340,250 (GRCm39) K512E probably damaging Het
Sox7 C T 14: 64,181,275 (GRCm39) S24L probably benign Het
Specc1 A G 11: 62,023,171 (GRCm39) K659E probably damaging Het
Stx18 T A 5: 38,285,383 (GRCm39) probably null Het
Svs5 C A 2: 164,080,091 (GRCm39) G25W probably damaging Het
Syne1 A G 10: 5,297,829 (GRCm39) M1156T probably benign Het
Tars2 T A 3: 95,658,271 (GRCm39) I185F probably benign Het
Thsd7a T C 6: 12,396,612 (GRCm39) I839V Het
Vmn1r115 T C 7: 20,578,819 (GRCm39) N31S probably damaging Het
Vmn1r57 A G 7: 5,224,024 (GRCm39) D183G probably damaging Het
Wdr7 C T 18: 63,868,756 (GRCm39) T275I probably damaging Het
Ybx2 A G 11: 69,831,194 (GRCm39) E263G probably damaging Het
Zbtb6 G T 2: 37,319,896 (GRCm39) Q11K probably benign Het
Zfp329 A T 7: 12,544,116 (GRCm39) C469* probably null Het
Zfp868 A T 8: 70,066,446 (GRCm39) L40H probably 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
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
R8556:Elavl1 UTSW 8 4,345,388 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- ACCAAGGTCTCTCATGTCCAAC -3'
(R):5'- TTGTCCTGTGTGTAATTACTTGCAC -3'

Sequencing Primer
(F):5'- GGAGGCTAATTGCTGATATCTCCC -3'
(R):5'- AGGCCCCAATTCTGAGTT -3'
Posted On 2020-07-28