Incidental Mutation 'IGL01886:Elavl2'
ID 179140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elavl2
Ensembl Gene ENSMUSG00000008489
Gene Name ELAV like RNA binding protein 1
Synonyms mel-N1, Hub
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.530) question?
Stock # IGL01886
Quality Score
Status
Chromosome 4
Chromosomal Location 91250763-91400785 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91264093 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 129 (V129A)
Ref Sequence ENSEMBL: ENSMUSP00000102741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008633] [ENSMUST00000102799] [ENSMUST00000107109] [ENSMUST00000107110] [ENSMUST00000107111] [ENSMUST00000107116] [ENSMUST00000107118] [ENSMUST00000107120] [ENSMUST00000107124] [ENSMUST00000177109]
AlphaFold Q60899
Predicted Effect probably damaging
Transcript: ENSMUST00000008633
AA Change: V129A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: V129A

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 278 351 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102799
AA Change: V143A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: V143A

DomainStartEndE-ValueType
RRM 54 127 1.44e-24 SMART
RRM 140 215 2.35e-20 SMART
RRM 291 364 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107109
AA Change: V129A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: V129A

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 277 350 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107110
AA Change: V129A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: V129A

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 265 338 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107111
AA Change: V129A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: V129A

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 264 337 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107116
AA Change: V158A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: V158A

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 307 380 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107118
AA Change: V158A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: V158A

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 294 367 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107120
AA Change: V158A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: V158A

DomainStartEndE-ValueType
RRM 69 142 1.44e-24 SMART
RRM 155 230 2.35e-20 SMART
RRM 306 379 5.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107124
AA Change: V129A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: V129A

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
RRM 126 201 2.35e-20 SMART
RRM 277 350 5.15e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176469
Predicted Effect probably benign
Transcript: ENSMUST00000177109
SMART Domains Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489

DomainStartEndE-ValueType
RRM 40 113 1.44e-24 SMART
Coding Region Coverage
Validation Efficiency
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 neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Polr3h T C 15: 81,917,390 E95G probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Elavl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Elavl2 APN 4 91264072 missense probably damaging 1.00
IGL02016:Elavl2 APN 4 91260935 missense probably damaging 1.00
IGL02024:Elavl2 APN 4 91253539 missense probably benign 0.02
IGL02860:Elavl2 APN 4 91260953 missense probably damaging 1.00
R0458:Elavl2 UTSW 4 91308867 splice site probably benign
R1294:Elavl2 UTSW 4 91311589 missense probably benign 0.02
R1778:Elavl2 UTSW 4 91253478 missense probably damaging 1.00
R2063:Elavl2 UTSW 4 91253450 missense possibly damaging 0.81
R2190:Elavl2 UTSW 4 91264094 missense probably benign 0.22
R3773:Elavl2 UTSW 4 91264088 missense probably damaging 1.00
R4473:Elavl2 UTSW 4 91261009 splice site probably null
R4784:Elavl2 UTSW 4 91254142 missense probably null 0.97
R4911:Elavl2 UTSW 4 91308678 missense possibly damaging 0.91
R5396:Elavl2 UTSW 4 91260818 missense probably damaging 1.00
R6708:Elavl2 UTSW 4 91253397 missense probably damaging 1.00
R6882:Elavl2 UTSW 4 91308715 missense probably damaging 1.00
R7592:Elavl2 UTSW 4 91311571 critical splice donor site probably null
R7849:Elavl2 UTSW 4 91372043 unclassified probably benign
R9051:Elavl2 UTSW 4 91311610 missense probably benign 0.36
R9381:Elavl2 UTSW 4 91308772 missense probably benign
Posted On 2014-05-07