Incidental Mutation 'IGL03068:Ear1'
ID 409791
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 # IGL03068
Quality Score
Status
Chromosome 14
Chromosomal Location 44056222-44057096 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 44056502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 122 (S122*)
Ref Sequence ENSEMBL: ENSMUSP00000136385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100691] [ENSMUST00000179200]
AlphaFold P97426
Predicted Effect probably null
Transcript: ENSMUST00000100691
AA Change: S122*
SMART Domains Protein: ENSMUSP00000098256
Gene: ENSMUSG00000072601
AA Change: S122*

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
RNAse_Pc 27 155 5.02e-57 SMART
Predicted Effect probably null
Transcript: ENSMUST00000179200
AA Change: S122*
SMART Domains Protein: ENSMUSP00000136385
Gene: ENSMUSG00000072601
AA Change: S122*

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,311,171 (GRCm39) L14P probably damaging Het
Ak2 G T 4: 128,901,819 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,246 (GRCm39) Y311C probably damaging Het
Arl9 C A 5: 77,155,225 (GRCm39) L119I possibly damaging Het
Atp1a1 T C 3: 101,491,175 (GRCm39) H620R probably benign Het
Cfap52 T C 11: 67,826,682 (GRCm39) D381G probably benign Het
Cngb3 T C 4: 19,375,246 (GRCm39) F292S possibly damaging Het
Comtd1 G A 14: 21,897,711 (GRCm39) R203C probably damaging Het
Crmp1 G T 5: 37,422,633 (GRCm39) A147S possibly damaging Het
Csmd3 T A 15: 47,710,517 (GRCm39) H1586L possibly damaging Het
Ctnna1 G A 18: 35,382,785 (GRCm39) E644K possibly damaging Het
Dock3 T C 9: 106,841,958 (GRCm39) D957G possibly damaging Het
Eefsec G T 6: 88,235,209 (GRCm39) Q576K probably benign Het
Efcab5 T A 11: 76,994,927 (GRCm39) I1215L probably benign Het
Etfa A T 9: 55,394,766 (GRCm39) D160E probably benign Het
Exoc7 G A 11: 116,191,960 (GRCm39) R197C possibly damaging Het
G6pc1 A G 11: 101,261,576 (GRCm39) D92G probably benign Het
Gm3182 T A 14: 4,483,921 (GRCm38) probably null Het
Gm4952 A G 19: 12,601,068 (GRCm39) N96S probably damaging Het
Gpr156 G A 16: 37,812,491 (GRCm39) V276M probably damaging Het
Irs2 A G 8: 11,054,974 (GRCm39) S1153P probably damaging Het
Kif21b T C 1: 136,086,093 (GRCm39) probably benign Het
Lmo7 A T 14: 102,112,928 (GRCm39) probably benign Het
Mapk4 G T 18: 74,103,415 (GRCm39) N31K probably damaging Het
Mccc2 T C 13: 100,100,319 (GRCm39) T357A probably damaging Het
Mpeg1 A G 19: 12,439,570 (GRCm39) T343A probably benign Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Pald1 T C 10: 61,156,963 (GRCm39) E829G possibly damaging Het
Pde11a A G 2: 75,848,208 (GRCm39) I873T probably damaging Het
Samd9l T A 6: 3,375,348 (GRCm39) K638* probably null Het
Sema4d A G 13: 51,862,922 (GRCm39) S479P probably damaging Het
Slc12a2 T C 18: 58,037,407 (GRCm39) probably benign Het
Slc47a2 T C 11: 61,194,769 (GRCm39) N470S probably damaging Het
Spag17 C T 3: 99,987,521 (GRCm39) P1604S probably benign Het
Taf8 C A 17: 47,812,290 (GRCm39) V39L probably damaging Het
Tlr11 A G 14: 50,598,941 (GRCm39) E309G probably benign Het
Tmem260 A G 14: 48,724,371 (GRCm39) probably benign Het
Tsc1 A T 2: 28,571,270 (GRCm39) K816M probably damaging Het
Ttc29 A G 8: 79,052,180 (GRCm39) I354V probably benign Het
Ttll3 A T 6: 113,386,158 (GRCm39) N665Y probably damaging Het
Ubr4 A G 4: 139,137,041 (GRCm39) T971A probably benign Het
Vmn2r96 T A 17: 18,803,137 (GRCm39) I349N probably benign Het
Vwa5a A G 9: 38,646,143 (GRCm39) T504A probably benign Het
Ythdf3 T A 3: 16,258,882 (GRCm39) V354E possibly damaging Het
Zan C A 5: 137,474,677 (GRCm39) G13V probably damaging 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
IGL03402:Ear1 APN 14 44,056,575 (GRCm39) missense probably benign 0.00
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