Incidental Mutation 'R0018:Pus3'
ID 19065
Institutional Source Beutler Lab
Gene Symbol Pus3
Ensembl Gene ENSMUSG00000032103
Gene Name pseudouridine synthase 3
Synonyms 5730412F04Rik, 2610020J05Rik
MMRRC Submission 038313-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0018 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 35558595-35567401 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35566624 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 384 (D384G)
Ref Sequence ENSEMBL: ENSMUSP00000034615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034615] [ENSMUST00000098906] [ENSMUST00000115110] [ENSMUST00000121246]
AlphaFold Q9JI38
Predicted Effect probably benign
Transcript: ENSMUST00000034615
AA Change: D384G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: D384G

coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 6.8e-12 PFAM
Pfam:PseudoU_synth_1 213 331 4.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098906
SMART Domains Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452

signal peptide 1 18 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115110
SMART Domains Protein: ENSMUSP00000110762
Gene: ENSMUSG00000050555

low complexity region 87 100 N/A INTRINSIC
Pfam:HYLS1_C 211 299 6.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121246
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103

coiled coil region 1 46 N/A INTRINSIC
Pfam:PseudoU_synth_1 68 190 3e-12 PFAM
Pfam:PseudoU_synth_1 213 316 1.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135768
Meta Mutation Damage Score 0.0803 question?
Coding Region Coverage
  • 1x: 82.8%
  • 3x: 76.3%
  • 10x: 59.3%
  • 20x: 41.5%
Validation Efficiency 90% (80/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b4 T A 1: 133,717,871 I982F probably damaging Het
BC024139 G A 15: 76,120,887 Q592* probably null Het
Capn7 T A 14: 31,354,112 C290* probably null Het
Celsr1 T A 15: 86,031,042 D910V possibly damaging Het
Cpne2 T A 8: 94,556,053 C59S possibly damaging Het
Cyp2b13 G A 7: 26,085,950 R248H probably benign Het
Dennd1a T A 2: 37,858,460 T336S possibly damaging Het
Drc7 A G 8: 95,074,234 Y628C probably damaging Het
Dse A G 10: 34,153,468 V542A probably benign Het
Gria4 A G 9: 4,432,843 L780P possibly damaging Het
Gsx2 A G 5: 75,077,167 K260R probably damaging Het
Kat6a A G 8: 22,929,273 D684G possibly damaging Het
Kif27 T G 13: 58,288,053 I1309L probably benign Het
Me2 A T 18: 73,791,852 F265I possibly damaging Het
Myo9a A T 9: 59,871,724 T1588S probably benign Het
Neu4 T A 1: 94,025,338 D476E probably benign Het
Nlrp9c T A 7: 26,371,998 Q895L possibly damaging Het
Nudt8 C T 19: 4,001,152 probably benign Het
Ppfia2 A G 10: 106,842,786 probably benign Het
Prkdc T C 16: 15,726,542 Y1799H probably benign Het
Psmc1 T C 12: 100,116,692 probably benign Het
Rasa2 A G 9: 96,571,963 S307P probably damaging Het
Rbpms2 A G 9: 65,651,078 D142G probably damaging Het
Slc13a5 T C 11: 72,266,475 I31V probably benign Het
Slc15a4 A T 5: 127,602,010 I422N probably damaging Het
Slc26a6 G T 9: 108,858,922 probably null Het
Ufm1 A T 3: 53,859,196 I79N probably benign Het
Xdh C T 17: 73,925,025 R230H probably benign Het
Zfp418 A T 7: 7,182,450 S471C probably benign Het
Other mutations in Pus3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:Pus3 UTSW 9 35566624 missense probably benign
R0376:Pus3 UTSW 9 35566422 missense possibly damaging 0.51
R0927:Pus3 UTSW 9 35565031 missense probably damaging 1.00
R3407:Pus3 UTSW 9 35566725 missense probably damaging 1.00
R3766:Pus3 UTSW 9 35566672 missense probably benign 0.01
R3832:Pus3 UTSW 9 35566578 missense probably benign 0.37
R3833:Pus3 UTSW 9 35566578 missense probably benign 0.37
R4655:Pus3 UTSW 9 35564932 missense probably benign 0.00
R5085:Pus3 UTSW 9 35565636 missense possibly damaging 0.93
R7238:Pus3 UTSW 9 35566669 missense probably benign
R7807:Pus3 UTSW 9 35566725 missense probably damaging 1.00
R9100:Pus3 UTSW 9 35565650 missense probably benign
X0027:Pus3 UTSW 9 35566456 missense probably damaging 1.00
Posted On 2013-03-25