Incidental Mutation 'R8382:Ear6'
ID 646991
Institutional Source Beutler Lab
Gene Symbol Ear6
Ensembl Gene ENSMUSG00000062148
Gene Name eosinophil-associated, ribonuclease A family, member 6
Synonyms
MMRRC Submission 067896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R8382 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52091225-52092100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52091570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 39 (I39T)
Ref Sequence ENSEMBL: ENSMUSP00000074075 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074477] [ENSMUST00000169070]
AlphaFold Q923L7
Predicted Effect probably damaging
Transcript: ENSMUST00000074477
AA Change: I39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074075
Gene: ENSMUSG00000062148
AA Change: I39T

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RNAse_Pc 27 155 7.8e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000169070
AA Change: I39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127152
Gene: ENSMUSG00000062148
AA Change: I39T

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
RNAse_Pc 27 155 7.8e-54 SMART
Meta Mutation Damage Score 0.7014 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency 94% (33/35)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,537,645 (GRCm39) R689G probably benign Het
Anapc4 T A 5: 53,016,277 (GRCm39) probably null Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Cacna1i G A 15: 80,261,017 (GRCm39) V1342M probably damaging Het
Cblif A T 19: 11,727,090 (GRCm39) T100S probably benign Het
Ccdc87 A G 19: 4,890,018 (GRCm39) D170G possibly damaging Het
Cpsf1 A G 15: 76,485,151 (GRCm39) V541A probably benign Het
Depdc5 C T 5: 33,085,242 (GRCm39) T687M probably benign Het
Fcgbp C T 7: 27,816,762 (GRCm39) A2408V probably benign Het
Frmd4b G A 6: 97,282,209 (GRCm39) T539I probably benign Het
Gm19410 T A 8: 36,276,302 (GRCm39) V1653D probably damaging Het
Jade1 A G 3: 41,519,369 (GRCm39) probably null Het
Kncn A G 4: 115,743,947 (GRCm39) N75S probably benign Het
Lig4 C T 8: 10,022,346 (GRCm39) G478D probably damaging Het
Med24 G A 11: 98,608,537 (GRCm39) T205I unknown Het
Meiob A G 17: 25,046,913 (GRCm39) E179G possibly damaging Het
Nalf1 T C 8: 9,257,972 (GRCm39) E392G probably benign Het
Or10d5 A G 9: 39,861,455 (GRCm39) V204A probably benign Het
Or4a27 A T 2: 88,559,857 (GRCm39) F29I probably damaging Het
Or8b44 A T 9: 38,410,588 (GRCm39) I208F probably damaging Het
Pcdh15 T C 10: 74,479,227 (GRCm39) V708A probably benign Het
Pclo T A 5: 14,727,080 (GRCm39) D1979E unknown Het
Plxnd1 A T 6: 115,949,433 (GRCm39) H784Q probably benign Het
Prim1 A T 10: 127,856,138 (GRCm39) probably null Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Slc7a5 A T 8: 122,612,691 (GRCm39) I371N probably damaging Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Spata31e3 T C 13: 50,401,474 (GRCm39) K284R possibly damaging Het
Taf1c G T 8: 120,329,789 (GRCm39) D117E probably damaging Het
Tekt5 T C 16: 10,212,928 (GRCm39) D119G probably benign Het
Top3b T C 16: 16,705,867 (GRCm39) I508T probably damaging Het
Uba6 A G 5: 86,279,196 (GRCm39) I673T probably benign Het
Vmn2r17 G T 5: 109,576,387 (GRCm39) M419I probably benign Het
Zfr C T 15: 12,153,054 (GRCm39) Q562* probably null Het
Zfyve16 A T 13: 92,650,328 (GRCm39) D885E probably benign Het
Other mutations in Ear6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01826:Ear6 APN 14 52,091,722 (GRCm39) missense probably benign 0.00
IGL02070:Ear6 APN 14 52,091,903 (GRCm39) missense probably damaging 1.00
IGL03203:Ear6 APN 14 52,091,703 (GRCm39) missense probably benign 0.01
R0538:Ear6 UTSW 14 52,091,909 (GRCm39) missense probably damaging 1.00
R0788:Ear6 UTSW 14 52,091,487 (GRCm39) nonsense probably null
R1998:Ear6 UTSW 14 52,091,672 (GRCm39) missense probably benign 0.12
R4948:Ear6 UTSW 14 52,091,573 (GRCm39) missense possibly damaging 0.69
R5787:Ear6 UTSW 14 52,091,855 (GRCm39) missense probably benign 0.09
R6501:Ear6 UTSW 14 52,091,681 (GRCm39) missense possibly damaging 0.75
R6814:Ear6 UTSW 14 52,091,885 (GRCm39) missense probably damaging 1.00
R6872:Ear6 UTSW 14 52,091,885 (GRCm39) missense probably damaging 1.00
R8318:Ear6 UTSW 14 52,091,722 (GRCm39) missense probably benign 0.00
R9485:Ear6 UTSW 14 52,091,489 (GRCm39) missense
Z1177:Ear6 UTSW 14 52,091,860 (GRCm39) frame shift probably null
Z1177:Ear6 UTSW 14 52,091,712 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAGTGTCACTGTGGACCCAC -3'
(R):5'- ACCCGAGACGAACTATTATGACAG -3'

Sequencing Primer
(F):5'- TGACAGCAGAGGGCCTTCAG -3'
(R):5'- CGAGACGAACTATTATGACAGTTTTG -3'
Posted On 2020-09-02