Incidental Mutation 'IGL03248:Ybey'
ID 414465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ybey
Ensembl Gene ENSMUSG00000033126
Gene Name ybeY metallopeptidase
Synonyms ORF57, ORF66, A130042E20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # IGL03248
Quality Score
Status
Chromosome 10
Chromosomal Location 76295401-76304948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76304161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 14 (I14V)
Ref Sequence ENSEMBL: ENSMUSP00000045647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049185] [ENSMUST00000170795]
AlphaFold Q8CAV0
Predicted Effect probably benign
Transcript: ENSMUST00000049185
AA Change: I14V

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126
AA Change: I14V

DomainStartEndE-ValueType
Pfam:UPF0054 8 148 7.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170795
SMART Domains Protein: ENSMUSP00000125960
Gene: ENSMUSG00000001150

DomainStartEndE-ValueType
Pfam:NupH_GANP 2 286 3.3e-108 PFAM
low complexity region 389 403 N/A INTRINSIC
Blast:RRM 430 504 5e-39 BLAST
SCOP:d1fjeb2 434 500 6e-4 SMART
low complexity region 544 559 N/A INTRINSIC
low complexity region 570 586 N/A INTRINSIC
Pfam:SAC3_GANP 677 903 1.7e-82 PFAM
low complexity region 997 1008 N/A INTRINSIC
low complexity region 1024 1035 N/A INTRINSIC
low complexity region 1039 1053 N/A INTRINSIC
low complexity region 1091 1110 N/A INTRINSIC
low complexity region 1133 1155 N/A INTRINSIC
Pfam:CID_GANP 1156 1226 1.6e-33 PFAM
Pfam:MCM3AP_GANP 1254 1967 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218564
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,290 (GRCm39) F116S probably damaging Het
Accsl A G 2: 93,693,129 (GRCm39) probably benign Het
Adgrl2 T A 3: 148,523,036 (GRCm39) E165V probably damaging Het
Alb T C 5: 90,609,573 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgef10 T C 8: 14,978,847 (GRCm39) V38A probably benign Het
Astn2 A G 4: 65,664,530 (GRCm39) probably benign Het
Bahcc1 G A 11: 120,159,235 (GRCm39) R154H probably damaging Het
Cep120 A G 18: 53,868,844 (GRCm39) Y112H probably benign Het
Chrna5 C T 9: 54,911,923 (GRCm39) T241I probably damaging Het
Clasp1 A G 1: 118,530,206 (GRCm39) S1215G probably benign Het
Ddx21 C T 10: 62,427,769 (GRCm39) R378Q possibly damaging Het
Dnah1 A T 14: 30,991,846 (GRCm39) L3052Q probably damaging Het
Dyrk4 G T 6: 126,861,016 (GRCm39) T445K probably benign Het
Ercc4 T C 16: 12,945,457 (GRCm39) W291R probably damaging Het
Flvcr1 A G 1: 190,757,939 (GRCm39) W76R probably damaging Het
Frmd3 A G 4: 74,046,455 (GRCm39) I132V possibly damaging Het
Gnb4 T C 3: 32,639,324 (GRCm39) D323G probably damaging Het
Hnrnpc G A 14: 52,312,896 (GRCm39) probably benign Het
Hnrnpl T C 7: 28,513,505 (GRCm39) S202P probably benign Het
Hydin T A 8: 111,321,921 (GRCm39) F4524L probably damaging Het
Iars2 A G 1: 185,023,629 (GRCm39) probably benign Het
Ino80d A G 1: 63,107,341 (GRCm39) probably null Het
Itga8 C A 2: 12,137,327 (GRCm39) A13S probably benign Het
Man2a1 T C 17: 65,020,606 (GRCm39) F794S probably damaging Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Nup93 T C 8: 95,032,716 (GRCm39) L411P probably damaging Het
Or51f23 C T 7: 102,452,846 (GRCm39) Q54* probably null Het
Plin1 C T 7: 79,372,382 (GRCm39) V86I probably damaging Het
Rgs6 A G 12: 83,099,324 (GRCm39) probably benign Het
Shroom3 C T 5: 93,100,399 (GRCm39) P1473S probably benign Het
Slc12a8 A G 16: 33,371,397 (GRCm39) I178V probably damaging Het
Slc20a2 T A 8: 23,048,999 (GRCm39) S219T probably benign Het
Tasor C T 14: 27,198,649 (GRCm39) T1327I probably damaging Het
Tfeb T C 17: 48,097,920 (GRCm39) M36T probably benign Het
Trim33 G A 3: 103,218,289 (GRCm39) probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Tulp1 T C 17: 28,578,298 (GRCm39) K276E possibly damaging Het
Uvssa T A 5: 33,549,160 (GRCm39) I340N probably damaging Het
Vmn1r32 T A 6: 66,529,897 (GRCm39) N293I possibly damaging Het
Xpc T C 6: 91,481,565 (GRCm39) N250S probably damaging Het
Zfhx3 T C 8: 109,673,182 (GRCm39) Y1411H probably damaging Het
Other mutations in Ybey
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02600:Ybey APN 10 76,300,165 (GRCm39) unclassified probably benign
IGL02735:Ybey APN 10 76,304,160 (GRCm39) missense probably damaging 0.99
IGL03098:Ybey UTSW 10 76,304,078 (GRCm39) nonsense probably null
R5051:Ybey UTSW 10 76,304,173 (GRCm39) missense probably damaging 1.00
R6760:Ybey UTSW 10 76,304,033 (GRCm39) missense probably benign
R7034:Ybey UTSW 10 76,304,197 (GRCm39) missense possibly damaging 0.63
R7036:Ybey UTSW 10 76,304,197 (GRCm39) missense possibly damaging 0.63
R7134:Ybey UTSW 10 76,304,025 (GRCm39) missense probably benign
Posted On 2016-08-02