Incidental Mutation 'R8723:Ear14'
ID 662242
Institutional Source Beutler Lab
Gene Symbol Ear14
Ensembl Gene ENSMUSG00000050766
Gene Name eosinophil-associated, ribonuclease A family, member 14
Synonyms
MMRRC Submission 068615-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R8723 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51441152-51441613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51441513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 123 (T123I)
Ref Sequence ENSEMBL: ENSMUSP00000056293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049559] [ENSMUST00000228064] [ENSMUST00000228835]
AlphaFold F6YUX7
Predicted Effect possibly damaging
Transcript: ENSMUST00000049559
AA Change: T123I

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056293
Gene: ENSMUSG00000050766
AA Change: T123I

DomainStartEndE-ValueType
low complexity region 5 24 N/A INTRINSIC
RNAse_Pc 27 155 7.4e-46 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228064
AA Change: T121I

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000228835
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,360,897 (GRCm39) H465Q probably benign Het
Adam29 T C 8: 56,324,513 (GRCm39) H647R probably damaging Het
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Adgrg7 T G 16: 56,582,282 (GRCm39) R285S probably benign Het
Alkbh1 A G 12: 87,485,278 (GRCm39) V115A probably benign Het
Ankrd50 A C 3: 38,511,453 (GRCm39) F305V probably damaging Het
Anpep A G 7: 79,488,686 (GRCm39) S414P probably damaging Het
Anxa3 A G 5: 96,986,206 (GRCm39) I282V probably benign Het
Aoah T G 13: 21,184,180 (GRCm39) Y415D possibly damaging Het
Cacna1b A G 2: 24,548,510 (GRCm39) V1188A probably damaging Het
Cnot1 A G 8: 96,462,907 (GRCm39) I1651T probably benign Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Ctnnd1 G A 2: 84,450,384 (GRCm39) P279S probably benign Het
Dnah10 A T 5: 124,891,685 (GRCm39) E3298V probably damaging Het
Elf3 A G 1: 135,185,385 (GRCm39) L43P possibly damaging Het
Exoc3l4 T A 12: 111,397,092 (GRCm39) probably benign Het
Figla A G 6: 85,997,724 (GRCm39) T151A probably benign Het
Fsd1l A G 4: 53,647,001 (GRCm39) E56G unknown Het
Gm49359 A T 13: 62,602,410 (GRCm39) H263Q probably damaging Het
Gprc6a A T 10: 51,491,518 (GRCm39) C744S probably damaging Het
Grhl1 G A 12: 24,662,244 (GRCm39) probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Itih3 T A 14: 30,630,761 (GRCm39) Q850L probably damaging Het
Kcnq5 A G 1: 21,575,591 (GRCm39) V285A probably damaging Het
Klc4 T G 17: 46,951,626 (GRCm39) E165A probably benign Het
Lrp2 T C 2: 69,316,648 (GRCm39) Y2111C probably damaging Het
Lyst A G 13: 13,887,342 (GRCm39) E3057G possibly damaging Het
Macf1 G A 4: 123,348,910 (GRCm39) Q4006* probably null Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Ms4a20 A G 19: 11,083,055 (GRCm39) Y122H probably damaging Het
Myh14 A G 7: 44,272,407 (GRCm39) F1466S probably damaging Het
Nrip1 T C 16: 76,089,553 (GRCm39) D668G probably damaging Het
Or5w17 T C 2: 87,583,501 (GRCm39) T279A possibly damaging Het
Or8k3 A T 2: 86,058,786 (GRCm39) H176Q probably damaging Het
P2rx1 C A 11: 72,899,756 (GRCm39) N120K probably benign Het
Pif1 T A 9: 65,501,673 (GRCm39) M569K probably damaging Het
Prkd2 G A 7: 16,591,702 (GRCm39) V578I possibly damaging Het
Rhobtb1 A G 10: 69,106,101 (GRCm39) Y284C probably damaging Het
Rps6kb1 T C 11: 86,410,757 (GRCm39) T164A possibly damaging Het
Rxfp1 T C 3: 79,557,802 (GRCm39) T559A probably benign Het
Sag G A 1: 87,751,175 (GRCm39) probably null Het
Smoc1 G A 12: 81,182,586 (GRCm39) V138I possibly damaging Het
Spag5 T A 11: 78,212,215 (GRCm39) I1081N probably damaging Het
Stk25 A G 1: 93,553,666 (GRCm39) I203T probably damaging Het
Strip2 T A 6: 29,941,863 (GRCm39) V611E probably damaging Het
Sulf1 A T 1: 12,856,911 (GRCm39) D54V probably damaging Het
Tacr2 A G 10: 62,094,107 (GRCm39) D188G probably damaging Het
Tmem237 A T 1: 59,145,731 (GRCm39) Y358N probably damaging Het
Trim27 A C 13: 21,374,807 (GRCm39) probably benign Het
Tsen34 A G 7: 3,698,149 (GRCm39) E139G probably benign Het
Ttc39a T A 4: 109,300,700 (GRCm39) probably benign Het
Tubgcp3 A T 8: 12,671,899 (GRCm39) I781N probably damaging Het
Uqcc1 C T 2: 155,729,100 (GRCm39) W21* probably null Het
Vmn2r117 A T 17: 23,696,343 (GRCm39) W355R probably damaging Het
Vmn2r89 T C 14: 51,693,910 (GRCm39) V420A probably benign Het
Zdhhc21 A T 4: 82,762,439 (GRCm39) I52K probably benign Het
Other mutations in Ear14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7781:Ear14 UTSW 14 51,441,468 (GRCm39) missense probably damaging 1.00
R8297:Ear14 UTSW 14 51,441,564 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCGATGTGATGCTGTAATGAG -3'
(R):5'- CAGACAGAGGAATTGGTTCTTCAC -3'

Sequencing Primer
(F):5'- TGAGGGTTGTTAACAGGTATAGAC -3'
(R):5'- CACTACTATTATCTTGGCAGTAGCAG -3'
Posted On 2021-03-08