Incidental Mutation 'R0018:Pus3'
ID 177878
Institutional Source Beutler Lab
Gene Symbol Pus3
Ensembl Gene ENSMUSG00000032103
Gene Name pseudouridine synthase 3
Synonyms 2610020J05Rik, 5730412F04Rik
MMRRC Submission 038313-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R0018 (G1)
Quality Score 27
Status Validated
Chromosome 9
Chromosomal Location 35469891-35478697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35477920 bp (GRCm39)
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

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
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135768
Meta Mutation Damage Score 0.0803 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 100% (64/64)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,532,162 (GRCm39) probably null Het
Afp A C 5: 90,654,600 (GRCm39) Q546P probably damaging Het
Api5 A T 2: 94,251,329 (GRCm39) probably null Het
Atp2b4 T A 1: 133,645,609 (GRCm39) I982F probably damaging Het
BC024139 G A 15: 76,005,087 (GRCm39) Q592* probably null Het
Capn7 T A 14: 31,076,069 (GRCm39) C290* probably null Het
Ccn1 A G 3: 145,355,186 (GRCm39) L23P probably damaging Het
Celsr1 T A 15: 85,915,243 (GRCm39) D910V possibly damaging Het
Chga T C 12: 102,524,764 (GRCm39) S45P probably damaging Het
Cpne2 T A 8: 95,282,681 (GRCm39) C59S possibly damaging Het
Cyp2b13 G A 7: 25,785,375 (GRCm39) R248H probably benign Het
Dennd1a T A 2: 37,748,472 (GRCm39) T336S possibly damaging Het
Drc7 A G 8: 95,800,862 (GRCm39) Y628C probably damaging Het
Dse A G 10: 34,029,464 (GRCm39) V542A probably benign Het
Dspp A T 5: 104,326,096 (GRCm39) S820C unknown Het
Efcab3 G A 11: 104,612,378 (GRCm39) probably null Het
Eif5b T C 1: 38,057,970 (GRCm39) S91P unknown Het
Epop A G 11: 97,519,017 (GRCm39) V364A probably benign Het
Ext2 G A 2: 93,626,037 (GRCm39) P341L probably damaging Het
Galns T C 8: 123,311,724 (GRCm39) T429A probably benign Het
Gsx2 A G 5: 75,237,828 (GRCm39) K260R probably damaging Het
H2-M10.6 A C 17: 37,124,941 (GRCm39) H286P probably damaging Het
Hectd4 A G 5: 121,392,242 (GRCm39) N169D possibly damaging Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Hmcn1 T C 1: 150,528,302 (GRCm39) D3282G probably benign Het
Hnmt T A 2: 23,893,640 (GRCm39) N285Y possibly damaging Het
Hr A G 14: 70,795,717 (GRCm39) R450G probably benign Het
Kat6a A G 8: 23,419,289 (GRCm39) D684G possibly damaging Het
Kif27 T G 13: 58,435,867 (GRCm39) I1309L probably benign Het
Mab21l4 T A 1: 93,082,327 (GRCm39) D264V probably benign Het
Man2b1 T A 8: 85,824,118 (GRCm39) V1005E probably damaging Het
Me2 A T 18: 73,924,923 (GRCm39) F265I possibly damaging Het
Myo9a A T 9: 59,779,007 (GRCm39) T1588S probably benign Het
Neu4 T A 1: 93,953,060 (GRCm39) D476E probably benign Het
Nlrp9c T A 7: 26,071,423 (GRCm39) Q895L possibly damaging Het
Or1e35 T C 11: 73,797,452 (GRCm39) I289V probably damaging Het
Or1p1c A C 11: 74,160,934 (GRCm39) T240P probably benign Het
Pdzd8 C T 19: 59,289,105 (GRCm39) R765H probably damaging Het
Plk1 T C 7: 121,768,208 (GRCm39) probably null Het
Ppfia2 A G 10: 106,678,647 (GRCm39) probably benign Het
Prkdc T C 16: 15,544,406 (GRCm39) Y1799H probably benign Het
Psmc1 T C 12: 100,082,951 (GRCm39) probably benign Het
Ptchd3 A C 11: 121,733,170 (GRCm39) I687L probably benign Het
Ptprh A G 7: 4,604,845 (GRCm39) probably null Het
Rab44 C T 17: 29,358,354 (GRCm39) P181S probably benign Het
Rasa2 A G 9: 96,454,016 (GRCm39) S307P probably damaging Het
Rbpms2 A G 9: 65,558,360 (GRCm39) D142G probably damaging Het
Reln A T 5: 22,130,369 (GRCm39) D2647E probably benign Het
Ryr2 G A 13: 11,610,109 (GRCm39) T4239I possibly damaging Het
Sctr C A 1: 119,971,286 (GRCm39) probably benign Het
Serpinb6e A T 13: 34,021,828 (GRCm39) Y167N probably damaging Het
Slc13a5 T C 11: 72,157,301 (GRCm39) I31V probably benign Het
Slc15a4 A T 5: 127,679,074 (GRCm39) I422N probably damaging Het
Stk24 G A 14: 121,545,419 (GRCm39) probably benign Het
Vmn1r213 T A 13: 23,196,311 (GRCm39) V298D probably damaging Het
Xdh C T 17: 74,232,020 (GRCm39) R230H probably benign Het
Zfp418 A T 7: 7,185,449 (GRCm39) S471C probably benign Het
Other mutations in Pus3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9100:Pus3 UTSW 9 35,476,946 (GRCm39) missense probably benign
X0027:Pus3 UTSW 9 35,477,752 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCCCATGTCTTGATTTGTTACCACTG -3'
(R):5'- TCTGCCTCTACTCACAAAATGCCG -3'

Sequencing Primer
(F):5'- CCACTGACATTTACTTAGTACAGGTC -3'
(R):5'- AAGGCACTCGTGTGCTTT -3'
Posted On 2014-04-30