Incidental Mutation 'IGL03203:Ear6'
ID 413042
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ear6
Ensembl Gene ENSMUSG00000062148
Gene Name eosinophil-associated, ribonuclease A family, member 6
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL03203
Quality Score
Status
Chromosome 14
Chromosomal Location 52091225-52092100 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 52091703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 83 (S83R)
Ref Sequence ENSEMBL: ENSMUSP00000127152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074477] [ENSMUST00000169070]
AlphaFold Q923L7
Predicted Effect probably benign
Transcript: ENSMUST00000074477
AA Change: S83R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000074075
Gene: ENSMUSG00000062148
AA Change: S83R

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: S83R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000127152
Gene: ENSMUSG00000062148
AA Change: S83R

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,915,163 (GRCm39) probably benign Het
Adamts17 T G 7: 66,711,856 (GRCm39) I725S probably damaging Het
Arhgef3 T C 14: 27,116,073 (GRCm39) Y292H probably damaging Het
Cdh19 C T 1: 110,817,828 (GRCm39) C638Y possibly damaging Het
Ces1c A T 8: 93,851,216 (GRCm39) M136K probably damaging Het
Col11a1 A G 3: 114,005,733 (GRCm39) I482V possibly damaging Het
Col4a3 A T 1: 82,650,360 (GRCm39) K539* probably null Het
D630045J12Rik A G 6: 38,145,156 (GRCm39) V1290A probably damaging Het
Gdf10 T C 14: 33,656,430 (GRCm39) V464A possibly damaging Het
Herc1 T C 9: 66,296,182 (GRCm39) probably null Het
Katnal2 G T 18: 77,095,220 (GRCm39) A194E probably damaging Het
Lpxn A T 19: 12,796,770 (GRCm39) M97L probably benign Het
Mn1 T C 5: 111,569,269 (GRCm39) S1080P probably benign Het
Nadk T C 4: 155,669,708 (GRCm39) F89L probably damaging Het
Nek5 G A 8: 22,608,784 (GRCm39) R92W probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nipal4 C A 11: 46,041,123 (GRCm39) L357F probably damaging Het
Or12d12 A G 17: 37,611,317 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,467,585 (GRCm39) N169D possibly damaging Het
Plppr4 A G 3: 117,119,540 (GRCm39) C290R possibly damaging Het
Rxfp2 A G 5: 149,987,145 (GRCm39) D332G probably benign Het
Slc9b2 G A 3: 135,031,973 (GRCm39) D278N probably damaging Het
Taok1 A G 11: 77,430,911 (GRCm39) V838A probably damaging Het
Thoc1 T A 18: 9,960,483 (GRCm39) probably benign Het
Usp36 C T 11: 118,176,636 (GRCm39) V61I probably benign Het
Uxs1 A G 1: 43,846,504 (GRCm39) probably benign Het
Zmat4 C T 8: 24,505,200 (GRCm39) H147Y probably damaging 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
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
R8382:Ear6 UTSW 14 52,091,570 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02