Incidental Mutation 'R9100:Pus3'
ID 691630
Institutional Source Beutler Lab
Gene Symbol Pus3
Ensembl Gene ENSMUSG00000032103
Gene Name pseudouridine synthase 3
Synonyms 2610020J05Rik, 5730412F04Rik
MMRRC Submission 068914-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R9100 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 35469891-35478697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35476946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 248 (Q248K)
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: Q248K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: Q248K

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
low complexity region 87 100 N/A INTRINSIC
Pfam:HYLS1_C 211 299 6.4e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121246
AA Change: Q248K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103
AA Change: Q248K

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0938 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (75/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,853,800 (GRCm39) V444A possibly damaging Het
Add1 T A 5: 34,770,622 (GRCm39) probably benign Het
Adgrg3 A G 8: 95,762,891 (GRCm39) probably benign Het
Adgrl3 A C 5: 81,842,299 (GRCm39) Q809P possibly damaging Het
Ankmy2 T C 12: 36,236,806 (GRCm39) C205R probably damaging Het
Atp6v1b2 A G 8: 69,541,476 (GRCm39) N11S Het
B3gnt6 T A 7: 97,843,958 (GRCm39) M1L not run Het
Bltp1 A G 3: 37,098,907 (GRCm39) K1256R Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdca8 T C 4: 124,830,238 (GRCm39) T45A probably benign Het
Ces2b C A 8: 105,558,221 (GRCm39) probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot3 A G 7: 3,661,192 (GRCm39) D567G probably benign Het
Cnot6l T C 5: 96,230,875 (GRCm39) D364G probably damaging Het
Cpped1 A G 16: 11,646,419 (GRCm39) V111A Het
Cstdc4 T A 16: 36,008,285 (GRCm39) M57K possibly damaging Het
Cyp11b2 T C 15: 74,722,995 (GRCm39) K468E probably damaging Het
Dpp4 T G 2: 62,204,733 (GRCm39) T245P possibly damaging Het
Efcab15 T C 11: 103,090,893 (GRCm39) T151A probably benign Het
Fat2 A G 11: 55,153,347 (GRCm39) W3622R probably damaging Het
Fat4 A C 3: 39,064,803 (GRCm39) K4920Q Het
Frmpd2 A G 14: 33,252,407 (GRCm39) I656M probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gde1 C T 7: 118,294,305 (GRCm39) R166H probably benign Het
Gdf7 A T 12: 8,348,652 (GRCm39) F215Y unknown Het
Gdpgp1 A G 7: 79,888,282 (GRCm39) I104M probably benign Het
Gldc A G 19: 30,077,314 (GRCm39) S953P possibly damaging Het
Golga3 C T 5: 110,337,544 (GRCm39) H411Y probably benign Het
Gpn1 G T 5: 31,655,740 (GRCm39) R101I probably damaging Het
Itgb5 T A 16: 33,740,551 (GRCm39) S554T possibly damaging Het
Klhl1 G A 14: 96,584,364 (GRCm39) L289F probably damaging Het
Klhl13 C T X: 23,113,733 (GRCm39) R95Q probably benign Het
Kmt2d G C 15: 98,747,832 (GRCm39) T3164R unknown Het
Knl1 T C 2: 118,899,469 (GRCm39) V390A probably benign Het
Krtap5-2 GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA GCCACAGCCCCCACAGGAACTACA 7: 141,728,836 (GRCm39) probably benign Het
Lamtor4 G A 5: 138,254,595 (GRCm39) probably benign Het
Lonrf1 AGGCGGCGGCGGCGG AGGCGGCGGCGG 8: 36,715,919 (GRCm39) probably benign Het
Ltbp1 C T 17: 75,622,102 (GRCm39) L829F probably benign Het
Ltbp1 T A 17: 75,622,103 (GRCm39) L829H probably damaging Het
Mrgpra1 C T 7: 46,984,732 (GRCm39) E316K probably damaging Het
Muc16 T A 9: 18,556,966 (GRCm39) H3109L unknown Het
Nck1 T C 9: 100,377,561 (GRCm39) E368G probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nus1 A T 10: 52,305,287 (GRCm39) probably null Het
Nxph2 T C 2: 23,289,780 (GRCm39) V44A probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Or4f56 A G 2: 111,703,606 (GRCm39) M198T possibly damaging Het
Or4k35 A G 2: 111,100,094 (GRCm39) L206P probably benign Het
Or4z4 G T 19: 12,076,254 (GRCm39) H250N probably benign Het
Or5d35 T C 2: 87,855,330 (GRCm39) I88T probably benign Het
Or5m11b A G 2: 85,806,096 (GRCm39) K170E probably benign Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Otof T C 5: 30,539,696 (GRCm39) D1039G possibly damaging Het
Parpbp T A 10: 87,968,969 (GRCm39) Q159L possibly damaging Het
Per2 A T 1: 91,351,464 (GRCm39) L1014Q possibly damaging Het
Pik3ap1 C G 19: 41,312,924 (GRCm39) silent Het
Pik3ca A G 3: 32,514,168 (GRCm39) N885D probably damaging Het
Pip5k1c T C 10: 81,145,056 (GRCm39) V299A probably benign Het
Polr3h A T 15: 81,806,717 (GRCm39) probably benign Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel23 T G 4: 143,425,727 (GRCm39) N72T probably benign Het
Sectm1a T A 11: 120,960,569 (GRCm39) Q82L possibly damaging Het
Sema3e A G 5: 14,282,208 (GRCm39) Y448C probably damaging Het
Slc12a4 A T 8: 106,675,774 (GRCm39) S584T probably benign Het
Slc25a40 T C 5: 8,499,613 (GRCm39) F249L probably benign Het
St3gal6 T A 16: 58,306,793 (GRCm39) N79I Het
Stxbp4 A T 11: 90,426,320 (GRCm39) I496K possibly damaging Het
Sulf1 A G 1: 12,878,118 (GRCm39) Y202C probably damaging Het
Swt1 A G 1: 151,299,256 (GRCm39) probably null Het
Tdrd6 T C 17: 43,936,305 (GRCm39) Y1581C possibly damaging Het
Tenm4 G C 7: 96,495,061 (GRCm39) G1163A probably damaging Het
Tlr4 A G 4: 66,758,518 (GRCm39) E437G probably benign Het
Txnrd2 A T 16: 18,256,315 (GRCm39) H101L probably damaging Het
Uba3 A T 6: 97,163,671 (GRCm39) V306E probably damaging Het
Unc5b T C 10: 60,604,152 (GRCm39) Q814R probably damaging Het
Vamp5 T G 6: 72,347,304 (GRCm39) E5A possibly damaging Het
Vmn1r69 T A 7: 10,314,064 (GRCm39) R222S probably damaging Het
Zfp507 G A 7: 35,494,446 (GRCm39) T199I probably benign Het
Zfyve19 T G 2: 119,041,718 (GRCm39) L95R probably benign Het
Other mutations in Pus3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0018:Pus3 UTSW 9 35,477,920 (GRCm39) missense probably benign
R0018:Pus3 UTSW 9 35,477,920 (GRCm39) missense probably benign
R0376:Pus3 UTSW 9 35,477,718 (GRCm39) missense possibly damaging 0.51
R0927:Pus3 UTSW 9 35,476,327 (GRCm39) missense probably damaging 1.00
R3407:Pus3 UTSW 9 35,478,021 (GRCm39) missense probably damaging 1.00
R3766:Pus3 UTSW 9 35,477,968 (GRCm39) missense probably benign 0.01
R3832:Pus3 UTSW 9 35,477,874 (GRCm39) missense probably benign 0.37
R3833:Pus3 UTSW 9 35,477,874 (GRCm39) missense probably benign 0.37
R4655:Pus3 UTSW 9 35,476,228 (GRCm39) missense probably benign 0.00
R5085:Pus3 UTSW 9 35,476,932 (GRCm39) missense possibly damaging 0.93
R7238:Pus3 UTSW 9 35,477,965 (GRCm39) missense probably benign
R7807:Pus3 UTSW 9 35,478,021 (GRCm39) missense probably damaging 1.00
X0027:Pus3 UTSW 9 35,477,752 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCTTGAGCGGACTTATCGC -3'
(R):5'- AAACTAGTAGACAGTGGCCCC -3'

Sequencing Primer
(F):5'- TTCCCTCGTGCGGATTTA -3'
(R):5'- GTAGACAGTGGCCCCCTCTTATATG -3'
Posted On 2021-12-30