Incidental Mutation 'IGL02823:Ear1'
ID361100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ear1
Ensembl Gene ENSMUSG00000072601
Gene Nameeosinophil-associated, ribonuclease A family, member 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL02823
Quality Score
Status
Chromosome14
Chromosomal Location43818765-43875517 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 43819045 bp
ZygosityHeterozygous
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]
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,261,955 S194P probably damaging Het
3110043O21Rik A T 4: 35,213,031 C215S probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fam84b T C 15: 60,823,123 D258G probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Grxcr2 T C 18: 41,991,981 K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Prob1 A T 18: 35,652,747 V818E possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Srebf2 G A 15: 82,199,774 G965D possibly damaging Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign Het
Other mutations in Ear1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02200:Ear1 APN 14 43819252 missense probably benign 0.00
IGL02302:Ear1 APN 14 43819047 missense probably benign 0.25
IGL03064:Ear1 APN 14 43819045 nonsense probably null
IGL03068:Ear1 APN 14 43819045 nonsense probably null
IGL03402:Ear1 APN 14 43819118 missense probably benign 0.00
R1536:Ear1 UTSW 14 43819126 missense probably damaging 1.00
R4504:Ear1 UTSW 14 43819264 missense probably benign 0.01
R5109:Ear1 UTSW 14 43819028 missense probably benign 0.16
R6532:Ear1 UTSW 14 43819252 missense probably benign 0.00
R7213:Ear1 UTSW 14 43819154 missense probably damaging 1.00
Posted On2015-12-18