Incidental Mutation 'R7204:Elavl1'
ID 560447
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 045282-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7204 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 4335382-4375413 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4361712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 20 (T20M)
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: T20M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096549
Gene: ENSMUSG00000040028
AA Change: T20M

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: T20M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6944 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,730,636 (GRCm39) S227P probably damaging Het
Acot6 A G 12: 84,153,301 (GRCm39) H181R probably benign Het
Adam15 A T 3: 89,254,244 (GRCm39) H184Q probably benign Het
Agl A G 3: 116,587,469 (GRCm39) F29L probably benign Het
Ak7 A G 12: 105,708,502 (GRCm39) Y319C probably benign Het
Ano8 C A 8: 71,931,669 (GRCm39) V813L probably benign Het
Apbb2 T G 5: 66,608,946 (GRCm39) K234Q probably damaging Het
Arfgef3 A T 10: 18,522,210 (GRCm39) D605E probably damaging Het
Bfsp2 C A 9: 103,309,865 (GRCm39) R340L probably damaging Het
Birc6 C A 17: 74,947,103 (GRCm39) P2956T probably damaging Het
C1rb T C 6: 124,554,386 (GRCm39) I389T probably benign Het
Ccdc146 A G 5: 21,513,624 (GRCm39) F498S probably benign Het
Cdc14b A C 13: 64,358,012 (GRCm39) V361G possibly damaging Het
Cdc25b A T 2: 131,033,552 (GRCm39) I164F probably damaging Het
Col18a1 A G 10: 76,921,110 (GRCm39) S297P unknown Het
Col3a1 A T 1: 45,361,578 (GRCm39) I117F unknown Het
Cox4i2 AG A 2: 152,602,618 (GRCm39) probably null Het
Crybg3 C A 16: 59,379,253 (GRCm39) G667V probably benign Het
Ctc1 A G 11: 68,920,567 (GRCm39) D623G probably damaging Het
Dennd1a A T 2: 37,929,215 (GRCm39) H152Q probably damaging Het
Dgke G A 11: 88,932,306 (GRCm39) P495S probably damaging Het
Dll3 A T 7: 27,998,330 (GRCm39) C212S possibly damaging Het
Dll4 A T 2: 119,159,054 (GRCm39) S235C probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah12 A T 14: 26,503,442 (GRCm39) T1599S probably damaging Het
Epha3 T C 16: 63,472,695 (GRCm39) T397A probably benign Het
Fanca A T 8: 124,013,216 (GRCm39) I859N probably damaging Het
Fzd1 A T 5: 4,805,980 (GRCm39) V534D probably damaging Het
Glmp A G 3: 88,233,917 (GRCm39) Y258C probably damaging Het
Gm9195 G A 14: 72,711,626 (GRCm39) P329S probably damaging Het
Gpt A G 15: 76,583,199 (GRCm39) R379G probably benign Het
Gsdmc2 T C 15: 63,696,903 (GRCm39) T423A probably damaging Het
Hemgn T C 4: 46,397,054 (GRCm39) K61E possibly damaging Het
Ikzf4 A T 10: 128,479,759 (GRCm39) S56T possibly damaging Het
Jak1 T C 4: 101,032,332 (GRCm39) T425A probably benign Het
Jsrp1 T C 10: 80,646,319 (GRCm39) T80A probably benign Het
Klra9 T A 6: 130,165,643 (GRCm39) D124V possibly damaging Het
Lama5 A T 2: 179,843,970 (GRCm39) V397D probably damaging Het
Lrp2 A G 2: 69,302,877 (GRCm39) S2951P probably benign Het
Map7d1 A G 4: 126,149,808 (GRCm39) probably null Het
Mcm6 A T 1: 128,265,864 (GRCm39) C636S probably damaging Het
Mia T C 7: 26,880,358 (GRCm39) E39G possibly damaging Het
Mpeg1 T A 19: 12,440,258 (GRCm39) I572N probably damaging Het
Muc21 AGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCAGTGCTGGATACAGTGGTGGTC AGCTGGATACAGTGGTGGTC 17: 35,932,105 (GRCm39) probably benign Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Mup5 A G 4: 61,751,992 (GRCm39) Y86H probably damaging Het
Nckap5 A T 1: 125,954,104 (GRCm39) V816D probably benign Het
Nfib T C 4: 82,215,052 (GRCm39) probably null Het
Nlrc5 T A 8: 95,218,153 (GRCm39) V1056D possibly damaging Het
Nynrin G C 14: 56,110,190 (GRCm39) E1766Q probably damaging Het
Or7d9 A T 9: 20,197,100 (GRCm39) Y43F probably benign Het
Oxct1 T A 15: 4,123,524 (GRCm39) L328Q probably damaging Het
Pax5 T A 4: 44,679,485 (GRCm39) I187F possibly damaging Het
Pcdhb4 A T 18: 37,442,292 (GRCm39) D534V probably damaging Het
Pebp4 C T 14: 70,085,046 (GRCm39) P35S probably benign Het
Pkhd1l1 T A 15: 44,386,949 (GRCm39) V1274E possibly damaging Het
Plcz1 A T 6: 139,956,150 (GRCm39) V373D probably benign Het
Plxnb1 C T 9: 108,929,243 (GRCm39) T33I probably damaging Het
Prag1 T C 8: 36,613,915 (GRCm39) C1156R probably benign Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Rbp4 G A 19: 38,112,551 (GRCm39) T138I possibly damaging Het
Semp2l2b A G 10: 21,943,785 (GRCm39) L65P probably damaging Het
Slc12a1 A T 2: 125,042,542 (GRCm39) N733Y possibly damaging Het
Slc27a3 A G 3: 90,297,033 (GRCm39) V22A probably benign Het
Tcaf1 T C 6: 42,651,973 (GRCm39) probably null Het
Tnc T C 4: 63,889,392 (GRCm39) probably null Het
Tspan31 A T 10: 126,903,987 (GRCm39) *211R probably null Het
Ttc17 A T 2: 94,192,773 (GRCm39) V86D possibly damaging Het
Ubr1 T A 2: 120,734,558 (GRCm39) N1114I possibly damaging Het
Ulk2 C T 11: 61,674,457 (GRCm39) G850R probably benign Het
Vmn1r13 T A 6: 57,187,141 (GRCm39) I100N probably benign Het
Zan T C 5: 137,426,240 (GRCm39) D2512G unknown Het
Zc3h14 A T 12: 98,737,615 (GRCm39) N34I probably damaging Het
Zcwpw1 T G 5: 137,810,346 (GRCm39) L374R probably damaging Het
Zfp747l1 A T 7: 126,983,518 (GRCm39) I528K 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
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
R8556:Elavl1 UTSW 8 4,345,388 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TATGGTTTCTAGCCTGCAGCC -3'
(R):5'- GTGCAGAAAAGAAAATCCCTTAACTGC -3'

Sequencing Primer
(F):5'- CTGCAGCCTATTCTGTACTAAGGAG -3'
(R):5'- ATCCCTTAACTGCAAAATGTAGTC -3'
Posted On 2019-06-26