Incidental Mutation 'IGL03402:Ear1'
ID 421446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ear1
Ensembl Gene ENSMUSG00000072601
Gene Name eosinophil-associated, ribonuclease A family, member 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03402
Quality Score
Status
Chromosome 14
Chromosomal Location 44056222-44057096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44056575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 98 (S98P)
Ref Sequence ENSEMBL: ENSMUSP00000136385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100691] [ENSMUST00000179200]
AlphaFold P97426
Predicted Effect probably benign
Transcript: ENSMUST00000100691
AA Change: S98P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000098256
Gene: ENSMUSG00000072601
AA Change: S98P

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
RNAse_Pc 27 155 5.02e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000179200
AA Change: S98P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000136385
Gene: ENSMUSG00000072601
AA Change: S98P

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
RNAse_Pc 27 155 5.02e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227949
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,216,972 (GRCm39) H81R probably benign Het
Alg10b A T 15: 90,112,532 (GRCm39) K459* probably null Het
C8g A T 2: 25,388,824 (GRCm39) *203K probably null Het
Cacna1b T C 2: 24,652,821 (GRCm39) E80G probably damaging Het
Cdh12 T A 15: 21,583,826 (GRCm39) N555K probably benign Het
Cenpf T A 1: 189,387,273 (GRCm39) N1669I probably damaging Het
Cpsf1 A G 15: 76,480,203 (GRCm39) probably null Het
Elfn2 A T 15: 78,557,670 (GRCm39) D292E possibly damaging Het
Fbxw24 T C 9: 109,430,316 (GRCm39) S443G probably damaging Het
Fnip2 T C 3: 79,388,583 (GRCm39) E716G possibly damaging Het
Gabra1 G T 11: 42,024,345 (GRCm39) N443K probably damaging Het
Grik5 A T 7: 24,714,894 (GRCm39) V700E probably damaging Het
Ifi27l2a T A 12: 103,405,772 (GRCm39) N162K probably damaging Het
Myom2 A T 8: 15,115,731 (GRCm39) T49S probably benign Het
Obsl1 T C 1: 75,463,443 (GRCm39) M1750V probably benign Het
Or10g9b A T 9: 39,917,802 (GRCm39) W148R probably benign Het
Or2l13b A T 16: 19,349,667 (GRCm39) M1K probably null Het
Or2y1 A T 11: 49,385,873 (GRCm39) H171L probably benign Het
Ppp2r5e A G 12: 75,511,667 (GRCm39) V352A probably damaging Het
Prkca T A 11: 108,231,489 (GRCm39) Q63L probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Slfn14 T C 11: 83,167,139 (GRCm39) K792R probably benign Het
Slfn3 C T 11: 83,104,257 (GRCm39) T376M probably damaging Het
Snx19 A T 9: 30,351,430 (GRCm39) I135F possibly damaging Het
Stab2 A T 10: 86,805,165 (GRCm39) V271E probably benign Het
Trpv1 T G 11: 73,130,463 (GRCm39) F190V possibly damaging Het
Urb2 T C 8: 124,756,588 (GRCm39) V765A possibly damaging Het
Vmn2r61 A G 7: 41,909,679 (GRCm39) H68R probably benign Het
Vps8 T C 16: 21,267,148 (GRCm39) I177T possibly damaging Het
Zfp810 A C 9: 22,190,441 (GRCm39) probably null Het
Other mutations in Ear1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02200:Ear1 APN 14 44,056,709 (GRCm39) missense probably benign 0.00
IGL02302:Ear1 APN 14 44,056,504 (GRCm39) missense probably benign 0.25
IGL02823:Ear1 APN 14 44,056,502 (GRCm39) nonsense probably null
IGL03064:Ear1 APN 14 44,056,502 (GRCm39) nonsense probably null
IGL03068:Ear1 APN 14 44,056,502 (GRCm39) nonsense probably null
R1536:Ear1 UTSW 14 44,056,583 (GRCm39) missense probably damaging 1.00
R4504:Ear1 UTSW 14 44,056,721 (GRCm39) missense probably benign 0.01
R5109:Ear1 UTSW 14 44,056,485 (GRCm39) missense probably benign 0.16
R6532:Ear1 UTSW 14 44,056,709 (GRCm39) missense probably benign 0.00
R7213:Ear1 UTSW 14 44,056,611 (GRCm39) missense probably damaging 1.00
R8439:Ear1 UTSW 14 44,056,704 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02