Incidental Mutation 'IGL03011:Elavl3'
ID407770
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elavl3
Ensembl Gene ENSMUSG00000003410
Gene NameELAV like RNA binding protein 3
Synonyms2600009P04Rik, Huc, mHuC
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #IGL03011
Quality Score
Status
Chromosome9
Chromosomal Location22015005-22052023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 22036316 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 109 (I109N)
Ref Sequence ENSEMBL: ENSMUSP00000149816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003501] [ENSMUST00000215901]
Predicted Effect probably damaging
Transcript: ENSMUST00000003501
AA Change: I110N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003501
Gene: ENSMUSG00000003410
AA Change: I110N

DomainStartEndE-ValueType
low complexity region 14 33 N/A INTRINSIC
RRM 40 113 9.99e-24 SMART
RRM 126 201 2.81e-18 SMART
low complexity region 266 283 N/A INTRINSIC
RRM 285 358 1.79e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213738
Predicted Effect probably damaging
Transcript: ENSMUST00000215901
AA Change: I109N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain-specific preweaning lethality, abnormal cortical hypersynchronization and non-convulsive electropgraphic seizure. Mice heterozygous for the allele exhibit abnormal brain wave pattern and spike wave discharge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik T A 19: 23,652,653 D25V unknown Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Apob C A 12: 7,997,883 P941Q probably damaging Het
Armc9 T A 1: 86,199,916 probably null Het
Arpc5l T C 2: 39,013,718 probably benign Het
Atg2b C A 12: 105,626,362 D1745Y probably damaging Het
Atp9a A G 2: 168,652,632 V651A probably damaging Het
Ccnyl1 T C 1: 64,708,472 I148T possibly damaging Het
Chrna6 A T 8: 27,413,654 W17R possibly damaging Het
Cpne1 G A 2: 156,077,997 H244Y probably damaging Het
Cpxm2 A G 7: 132,049,078 Y618H possibly damaging Het
Csf1r T C 18: 61,110,401 I163T probably benign Het
Ctdsp1 T C 1: 74,395,447 probably benign Het
Ctsb T A 14: 63,133,357 I6N probably benign Het
D430042O09Rik T C 7: 125,852,002 C1102R probably benign Het
Dcbld1 A G 10: 52,284,148 N44S probably damaging Het
Dnah11 C T 12: 118,012,377 C2769Y probably benign Het
Efemp2 C A 19: 5,480,065 Q187K probably damaging Het
Elovl5 G T 9: 77,982,784 K292N probably benign Het
Epb41 G T 4: 132,003,794 P1T probably damaging Het
Gm13084 A C 4: 143,811,760 F214V possibly damaging Het
Gm44865 G T 7: 108,565,800 probably benign Het
Gnat2 C A 3: 108,100,052 T262K probably damaging Het
Kmt2e A T 5: 23,497,542 I951F probably damaging Het
Large2 T C 2: 92,367,582 H258R probably damaging Het
Lnx1 G A 5: 74,685,759 P10L probably benign Het
Lrp6 G A 6: 134,520,417 S209L possibly damaging Het
Mc3r A G 2: 172,249,796 I313V probably benign Het
Med1 T C 11: 98,161,033 D468G possibly damaging Het
Mlxip T C 5: 123,445,951 S526P probably benign Het
Myo15 T C 11: 60,509,531 probably benign Het
Nedd1 T C 10: 92,689,641 D602G possibly damaging Het
Nol7 C T 13: 43,401,293 probably benign Het
Olfr250 T C 9: 38,368,068 I174T possibly damaging Het
Piezo2 T C 18: 63,124,660 D329G probably benign Het
Pkia G T 3: 7,442,082 E75* probably null Het
Ptpn14 A T 1: 189,839,557 T282S probably damaging Het
Ptprg C T 14: 12,219,029 P408S probably damaging Het
Rpa2 A G 4: 132,775,047 I147V probably benign Het
Serpina12 T C 12: 104,031,138 T375A possibly damaging Het
Serpinb11 T A 1: 107,379,816 S326T probably damaging Het
Slc18a1 T C 8: 69,038,863 T500A probably benign Het
Tapt1 A G 5: 44,193,187 F247L possibly damaging Het
Trav8d-2 A G 14: 53,042,761 I69M possibly damaging Het
Other mutations in Elavl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Elavl3 APN 9 22036718 missense probably damaging 1.00
IGL02740:Elavl3 APN 9 22036379 missense probably benign 0.06
IGL03211:Elavl3 APN 9 22018678 missense probably damaging 1.00
R0022:Elavl3 UTSW 9 22036871 splice site probably benign
R0105:Elavl3 UTSW 9 22036833 missense possibly damaging 0.84
R0850:Elavl3 UTSW 9 22036763 missense probably damaging 0.96
R1496:Elavl3 UTSW 9 22026165 splice site probably benign
R1499:Elavl3 UTSW 9 22018579 missense probably damaging 0.97
R3500:Elavl3 UTSW 9 22018744 missense probably damaging 1.00
R3714:Elavl3 UTSW 9 22018599 missense probably benign 0.11
R3715:Elavl3 UTSW 9 22018599 missense probably benign 0.11
R3937:Elavl3 UTSW 9 22018744 missense probably damaging 1.00
R3938:Elavl3 UTSW 9 22018744 missense probably damaging 1.00
R4791:Elavl3 UTSW 9 22024678 missense probably damaging 0.99
R4856:Elavl3 UTSW 9 22026318 missense possibly damaging 0.64
R4886:Elavl3 UTSW 9 22026318 missense possibly damaging 0.64
R4962:Elavl3 UTSW 9 22036811 missense probably benign 0.06
R5526:Elavl3 UTSW 9 22036326 missense probably benign
R5643:Elavl3 UTSW 9 22018733 missense probably benign 0.12
R6593:Elavl3 UTSW 9 22018547 missense possibly damaging 0.58
R7102:Elavl3 UTSW 9 22018729 missense possibly damaging 0.72
R7897:Elavl3 UTSW 9 22018550 missense probably damaging 1.00
R7980:Elavl3 UTSW 9 22018550 missense probably damaging 1.00
Posted On2016-08-02