Incidental Mutation 'IGL01826:Ear6'
ID154663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ear6
Ensembl Gene ENSMUSG00000062148
Gene Nameeosinophil-associated, ribonuclease A family, member 6
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01826
Quality Score
Status
Chromosome14
Chromosomal Location51853699-51854643 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 51854265 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 90 (I90V)
Ref Sequence ENSEMBL: ENSMUSP00000127152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074477] [ENSMUST00000169070]
Predicted Effect probably benign
Transcript: ENSMUST00000074477
AA Change: I90V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074075
Gene: ENSMUSG00000062148
AA Change: I90V

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RNAse_Pc 27 155 7.8e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169070
AA Change: I90V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127152
Gene: ENSMUSG00000062148
AA Change: I90V

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RNAse_Pc 27 155 7.8e-54 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T C 8: 84,166,672 V156A probably benign Het
Abcc8 T A 7: 46,124,849 D769V probably benign Het
Afm T A 5: 90,524,928 probably benign Het
Ago3 A G 4: 126,403,282 S181P probably damaging Het
Ccdc114 T A 7: 45,948,386 S573R possibly damaging Het
Ccm2l C A 2: 153,067,933 probably benign Het
Clhc1 A G 11: 29,553,765 probably null Het
Fsip2 T G 2: 82,982,639 S3101A probably benign Het
Gpsm1 C A 2: 26,326,302 H384N probably damaging Het
Itgal A G 7: 127,302,146 I235V probably benign Het
Lrp1b C A 2: 41,449,234 G752C probably damaging Het
Ltbp1 A G 17: 75,292,840 D659G possibly damaging Het
Plb1 A C 5: 32,281,145 D208A probably damaging Het
Plce1 T A 19: 38,739,238 probably benign Het
Stim1 A G 7: 102,427,075 probably benign Het
Sult4a1 A T 15: 84,090,046 S141T probably damaging Het
Tas2r119 A T 15: 32,177,402 K38M probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Zfp451 G A 1: 33,782,162 T203M probably damaging Het
Other mutations in Ear6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Ear6 APN 14 51854446 missense probably damaging 1.00
IGL03203:Ear6 APN 14 51854246 missense probably benign 0.01
R0538:Ear6 UTSW 14 51854452 missense probably damaging 1.00
R0788:Ear6 UTSW 14 51854030 nonsense probably null
R1998:Ear6 UTSW 14 51854215 missense probably benign 0.12
R4948:Ear6 UTSW 14 51854116 missense possibly damaging 0.69
R5787:Ear6 UTSW 14 51854398 missense probably benign 0.09
R6501:Ear6 UTSW 14 51854224 missense possibly damaging 0.75
R6814:Ear6 UTSW 14 51854428 missense probably damaging 1.00
R6872:Ear6 UTSW 14 51854428 missense probably damaging 1.00
Posted On2014-02-04