Incidental Mutation 'IGL02735:Ybey'
ID 305621
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 # IGL02735
Quality Score
Status
Chromosome 10
Chromosomal Location 76295401-76304948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76304160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 14 (I14N)
Ref Sequence ENSEMBL: ENSMUSP00000045647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049185] [ENSMUST00000170795]
AlphaFold Q8CAV0
Predicted Effect probably damaging
Transcript: ENSMUST00000049185
AA Change: I14N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126
AA Change: I14N

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
Acss1 A T 2: 150,480,387 (GRCm39) V228E probably damaging Het
Ampd1 T A 3: 102,992,693 (GRCm39) M145K probably damaging Het
Ankhd1 G A 18: 36,781,599 (GRCm39) S2217N probably benign Het
Asph T A 4: 9,598,759 (GRCm39) D211V probably damaging Het
Cd55b A T 1: 130,316,413 (GRCm39) W379R probably damaging Het
Derl3 A G 10: 75,730,950 (GRCm39) T201A probably damaging Het
Efcab6 A G 15: 83,783,898 (GRCm39) L1008P probably damaging Het
Eif4g3 A G 4: 137,853,522 (GRCm39) I363V probably benign Het
Heatr5a A G 12: 51,961,804 (GRCm39) F1058L probably damaging Het
Hmcn1 A T 1: 150,522,583 (GRCm39) M3439K probably benign Het
Ift140 C A 17: 25,253,009 (GRCm39) probably benign Het
Itgad A G 7: 127,792,888 (GRCm39) Y832C probably damaging Het
Itgb2 T A 10: 77,385,833 (GRCm39) D265E possibly damaging Het
Kif19a A T 11: 114,676,393 (GRCm39) E449V probably damaging Het
Krt40 T C 11: 99,429,461 (GRCm39) E291G probably damaging Het
Lama2 T C 10: 26,980,124 (GRCm39) N1897S probably damaging Het
Lepr A G 4: 101,639,835 (GRCm39) Y767C probably damaging Het
Lrrtm4 A G 6: 80,786,031 (GRCm39) H546R probably benign Het
Marchf6 A G 15: 31,486,266 (GRCm39) S362P probably benign Het
Med12l A G 3: 59,001,067 (GRCm39) Y734C probably damaging Het
Mrps18a C T 17: 46,433,725 (GRCm39) R74C probably damaging Het
Mvk A G 5: 114,588,880 (GRCm39) E174G probably benign Het
Naip2 A G 13: 100,296,722 (GRCm39) S1105P probably damaging Het
Nrxn3 A G 12: 89,221,624 (GRCm39) M468V probably benign Het
Obscn T C 11: 58,984,175 (GRCm39) E1760G probably damaging Het
Pcsk5 C A 19: 17,652,832 (GRCm39) G285W probably damaging Het
Pgpep1l A G 7: 67,886,721 (GRCm39) I196T probably benign Het
Phf14 T C 6: 11,987,611 (GRCm39) M630T probably benign Het
Plod2 T C 9: 92,477,442 (GRCm39) probably benign Het
Poldip2 G A 11: 78,403,162 (GRCm39) A9T probably benign Het
Pou2f1 A G 1: 165,703,396 (GRCm39) S718P probably damaging Het
Pramel34 G A 5: 93,786,503 (GRCm39) P89S possibly damaging Het
Ptpre A T 7: 135,269,296 (GRCm39) Y246F probably damaging Het
Pudp T C 18: 50,701,403 (GRCm39) H110R probably benign Het
Scaf4 C T 16: 90,042,403 (GRCm39) G646E unknown Het
Sec16a T A 2: 26,318,149 (GRCm39) probably benign Het
Serpina5 A G 12: 104,070,116 (GRCm39) T338A probably benign Het
Shisa5 T G 9: 108,885,080 (GRCm39) F118V probably damaging Het
Slc6a21 G A 7: 44,936,061 (GRCm39) probably benign Het
Sprtn T A 8: 125,630,126 (GRCm39) V473E probably benign Het
Styxl1 A G 5: 135,787,996 (GRCm39) I165T probably damaging Het
Tal2 T A 4: 53,785,906 (GRCm39) I29N probably damaging Het
Tas2r134 T C 2: 51,517,839 (GRCm39) I106T probably damaging Het
Tmem259 G A 10: 79,814,973 (GRCm39) T217I probably damaging Het
Trpc6 T C 9: 8,655,339 (GRCm39) I723T probably damaging Het
Vmn1r211 A T 13: 23,036,418 (GRCm39) V83D probably damaging Het
Vmn2r103 G T 17: 20,032,510 (GRCm39) M761I probably benign Het
Other mutations in Ybey
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02600:Ybey APN 10 76,300,165 (GRCm39) unclassified probably benign
IGL03248:Ybey APN 10 76,304,161 (GRCm39) missense probably benign 0.03
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 2015-04-16