Incidental Mutation 'R6532:Ear1'
ID 522442
Institutional Source Beutler Lab
Gene Symbol Ear1
Ensembl Gene ENSMUSG00000072601
Gene Name eosinophil-associated, ribonuclease A family, member 1
Synonyms
MMRRC Submission 044658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R6532 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 44056222-44057096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44056709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 53 (R53H)
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: R53H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098256
Gene: ENSMUSG00000072601
AA Change: R53H

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: R53H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136385
Gene: ENSMUSG00000072601
AA Change: R53H

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
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,803 (GRCm39) L1418P probably damaging Het
Adal A G 2: 120,976,604 (GRCm39) probably null Het
Atr T A 9: 95,790,461 (GRCm39) N1600K probably benign Het
Cubn T C 2: 13,463,813 (GRCm39) T631A probably benign Het
Dpp9 C T 17: 56,512,854 (GRCm39) G118D possibly damaging Het
Exoc1 T C 5: 76,685,684 (GRCm39) V132A probably damaging Het
Fam227a C T 15: 79,520,921 (GRCm39) R301Q probably benign Het
Garnl3 A T 2: 32,921,131 (GRCm39) M298K possibly damaging Het
Glb1l3 T C 9: 26,729,738 (GRCm39) D619G probably benign Het
Haspin A T 11: 73,028,377 (GRCm39) C237* probably null Het
Hook1 T G 4: 95,907,993 (GRCm39) probably null Het
Hoxa7 A G 6: 52,194,295 (GRCm39) F31L probably benign Het
Hoxb7 C A 11: 96,177,714 (GRCm39) S54* probably null Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Ifi207 A G 1: 173,557,211 (GRCm39) V516A possibly damaging Het
Inca1 T C 11: 70,586,733 (GRCm39) M1V probably null Het
Kcnt2 A G 1: 140,511,844 (GRCm39) T933A probably damaging Het
Lama4 G A 10: 38,924,073 (GRCm39) D494N possibly damaging Het
Lrp1 A C 10: 127,377,551 (GRCm39) H4133Q probably damaging Het
Lrp1 A G 10: 127,385,276 (GRCm39) F3542L probably damaging Het
Myo1f A G 17: 33,794,820 (GRCm39) D20G probably damaging Het
Nlk G T 11: 78,586,881 (GRCm39) A71E probably damaging Het
Nvl G A 1: 180,971,708 (GRCm39) probably null Het
Or9m1 A T 2: 87,733,546 (GRCm39) I158N probably damaging Het
Pakap T C 4: 57,855,174 (GRCm39) F168L probably benign Het
Pcnx1 C A 12: 82,027,738 (GRCm39) H1601N probably damaging Het
Pnkp T A 7: 44,506,829 (GRCm39) M1K probably null Het
Skic2 G A 17: 35,063,719 (GRCm39) R575C probably damaging Het
Slc25a54 A G 3: 109,019,368 (GRCm39) Y324C probably damaging Het
Tdrd3 A G 14: 87,743,252 (GRCm39) E400G probably damaging Het
Unc5b A G 10: 60,614,607 (GRCm39) I230T possibly damaging Het
Wfdc2 A G 2: 164,405,296 (GRCm39) T50A probably benign Het
Zfp563 A G 17: 33,324,672 (GRCm39) I422M probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CGACTGGTGATGTTACAGACAG -3'
(R):5'- GGGCCTTCAGGAAGACATAG -3'

Sequencing Primer
(F):5'- CAGACAGTTATATGTACCCGAGATG -3'
(R):5'- AAGGTGGGAGCAGTCACTTCTC -3'
Posted On 2018-06-06