Incidental Mutation 'R5051:Ybey'
ID 394659
Institutional Source Beutler Lab
Gene Symbol Ybey
Ensembl Gene ENSMUSG00000033126
Gene Name ybeY metallopeptidase
Synonyms ORF57, ORF66, A130042E20Rik
MMRRC Submission 042641-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # R5051 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 76295401-76304948 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76304173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 10 (R10W)
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: R10W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045647
Gene: ENSMUSG00000033126
AA Change: R10W

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 90.6%
Validation Efficiency 98% (62/63)
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
5730522E02Rik G A 11: 25,718,990 (GRCm39) T51I unknown Het
Alms1 C T 6: 85,604,916 (GRCm39) Q2189* probably null Het
Ank1 A T 8: 23,609,397 (GRCm39) D1363V probably damaging Het
Ap3d1 T G 10: 80,555,033 (GRCm39) T431P probably damaging Het
Arnt A G 3: 95,377,648 (GRCm39) T125A probably benign Het
Atp10a TGTCCGTC TGTC 7: 58,389,994 (GRCm39) probably null Het
Bscl2 A T 19: 8,822,643 (GRCm39) R195* probably null Het
Ccdc146 C T 5: 21,508,081 (GRCm39) V656I possibly damaging Het
Ccn6 A G 10: 39,031,152 (GRCm39) F124L probably benign Het
Ccr4 T C 9: 114,321,714 (GRCm39) Y117C probably damaging Het
Cd55 T A 1: 130,376,085 (GRCm39) D355V probably damaging Het
Cntn6 T A 6: 104,749,558 (GRCm39) I259N probably damaging Het
Cspg4 A G 9: 56,793,020 (GRCm39) I252V possibly damaging Het
Dmbt1 T C 7: 130,696,472 (GRCm39) V895A probably benign Het
Ect2 A G 3: 27,156,635 (GRCm39) V775A probably benign Het
Gm14486 T C 2: 30,548,889 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,756,393 (GRCm39) N444S possibly damaging Het
Heatr5b T C 17: 79,102,703 (GRCm39) D1225G probably damaging Het
Il1rl2 G A 1: 40,382,254 (GRCm39) V189I probably benign Het
Kif1a G A 1: 93,003,876 (GRCm39) probably null Het
Ltbr T A 6: 125,289,733 (GRCm39) T154S probably damaging Het
Mrgpra6 C T 7: 46,835,690 (GRCm39) V244I probably benign Het
Myo15a G A 11: 60,378,251 (GRCm39) probably null Het
Ndufs1 A G 1: 63,204,106 (GRCm39) probably null Het
Nectin3 A T 16: 46,268,913 (GRCm39) N496K possibly damaging Het
Nkd2 A G 13: 73,973,195 (GRCm39) V147A probably benign Het
Nlrp3 G C 11: 59,457,025 (GRCm39) R1013P probably benign Het
Or4d11 C A 19: 12,013,288 (GRCm39) V273F possibly damaging Het
Or4k36 T A 2: 111,146,599 (GRCm39) Y258* probably null Het
Pdk2 T C 11: 94,919,598 (GRCm39) S263G probably benign Het
Pla2g4e T A 2: 120,004,785 (GRCm39) I520F probably damaging Het
Plat A G 8: 23,263,688 (GRCm39) T196A probably benign Het
Podn T A 4: 107,872,043 (GRCm39) D400V probably benign Het
Poteg T C 8: 27,943,357 (GRCm39) V147A possibly damaging Het
Prkar2a A G 9: 108,622,690 (GRCm39) N315D probably benign Het
Rac2 A G 15: 78,449,134 (GRCm39) I13T possibly damaging Het
Rangap1 A C 15: 81,594,664 (GRCm39) D388E probably benign Het
Relch T A 1: 105,619,711 (GRCm39) N313K possibly damaging Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Supv3l1 A C 10: 62,279,196 (GRCm39) I240S probably damaging Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tead4 A C 6: 128,271,262 (GRCm39) probably benign Het
Tex10 G A 4: 48,460,019 (GRCm39) A444V possibly damaging Het
Tgds A T 14: 118,365,639 (GRCm39) I73K probably damaging Het
Tmem117 C A 15: 94,612,794 (GRCm39) T110K probably damaging Het
Trim30a T A 7: 104,060,913 (GRCm39) probably benign Het
Unc80 C T 1: 66,548,636 (GRCm39) T636I probably damaging Het
Zap70 A G 1: 36,820,532 (GRCm39) I576V probably benign Het
Zfp64 T C 2: 168,768,304 (GRCm39) D436G 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
IGL03248:Ybey APN 10 76,304,161 (GRCm39) missense probably benign 0.03
IGL03098:Ybey UTSW 10 76,304,078 (GRCm39) nonsense probably null
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
Predicted Primers PCR Primer
(F):5'- GAAAGCACGTCAGTTGGGAC -3'
(R):5'- TACCCTGTTTATTAGTTTCCTAGGG -3'

Sequencing Primer
(F):5'- ACGTCAGTTGGGACATTTTTATTCC -3'
(R):5'- ACAGGTTCCTTCCAACCA -3'
Posted On 2016-06-15