Incidental Mutation 'R4655:Pus3'
ID 352361
Institutional Source Beutler Lab
Gene Symbol Pus3
Ensembl Gene ENSMUSG00000032103
Gene Name pseudouridine synthase 3
Synonyms 2610020J05Rik, 5730412F04Rik
MMRRC Submission 041915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R4655 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 35469891-35478697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 35476228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 39 (D39A)
Ref Sequence ENSEMBL: ENSMUSP00000034615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034615] [ENSMUST00000115110] [ENSMUST00000121246]
AlphaFold Q9JI38
Predicted Effect probably benign
Transcript: ENSMUST00000034615
AA Change: D39A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000034615
Gene: ENSMUSG00000032103
AA Change: D39A

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: 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: D39A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113382
Gene: ENSMUSG00000032103
AA Change: D39A

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 0.0607 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 96% (79/82)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,314,778 (GRCm39) V300A probably benign Het
Aadacl4fm2 A T 4: 144,281,645 (GRCm39) F382L probably benign Het
Abca4 A G 3: 121,941,147 (GRCm39) N405S possibly damaging Het
Acsl3 A G 1: 78,668,063 (GRCm39) T212A probably damaging Het
Ahnak A G 19: 8,986,065 (GRCm39) K2450E probably damaging Het
Akap9 G A 5: 4,096,403 (GRCm39) R2426H probably benign Het
Akr1c6 T C 13: 4,499,428 (GRCm39) V266A probably damaging Het
Ccs A G 19: 4,889,232 (GRCm39) V11A probably benign Het
Cdc14a T A 3: 116,122,136 (GRCm39) H228L probably damaging Het
Cgn G A 3: 94,686,559 (GRCm39) Q248* probably null Het
Cux2 G A 5: 122,023,997 (GRCm39) T92M possibly damaging Het
Cyb5r4 A G 9: 86,941,482 (GRCm39) K68E probably benign Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Dnah9 T C 11: 65,846,558 (GRCm39) N2918S probably benign Het
Dyrk1b T C 7: 27,885,176 (GRCm39) V438A probably damaging Het
Eml1 G A 12: 108,500,972 (GRCm39) D625N probably damaging Het
Eno2 T C 6: 124,740,889 (GRCm39) probably null Het
Ephb3 G A 16: 21,040,958 (GRCm39) G672D probably damaging Het
Evx1 A T 6: 52,291,182 (GRCm39) D118V probably damaging Het
Fbxl13 A G 5: 21,787,037 (GRCm39) L300S probably damaging Het
Fbxo30 T C 10: 11,166,837 (GRCm39) F520L probably damaging Het
Flt3 G A 5: 147,286,403 (GRCm39) P728S possibly damaging Het
Gas2l2 T C 11: 83,314,001 (GRCm39) E437G possibly damaging Het
Gldc A T 19: 30,138,102 (GRCm39) probably benign Het
Gm18856 T C 13: 14,140,232 (GRCm39) probably benign Het
Gm7358 A T 17: 14,279,410 (GRCm39) noncoding transcript Het
Grifin A G 5: 140,550,300 (GRCm39) V47A possibly damaging Het
H3c7 T C 13: 23,728,923 (GRCm39) V90A probably benign Het
Hddc2 G T 10: 31,204,016 (GRCm39) probably benign Het
Hkdc1 T A 10: 62,236,242 (GRCm39) R433S probably benign Het
Htt A G 5: 35,063,476 (GRCm39) D2918G probably benign Het
Itga2 A C 13: 115,009,805 (GRCm39) D383E probably benign Het
Itpr1 G A 6: 108,458,254 (GRCm39) C2007Y probably damaging Het
Krt42 C A 11: 100,160,671 (GRCm39) Q9H probably damaging Het
Lyrm7 T C 11: 54,739,434 (GRCm39) Q72R probably damaging Het
Mmp9 A G 2: 164,793,122 (GRCm39) S424G probably benign Het
Mtr A G 13: 12,242,679 (GRCm39) V457A probably damaging Het
Myo15b T C 11: 115,781,523 (GRCm39) L1359P probably damaging Het
Neb A G 2: 52,117,311 (GRCm39) L4087P probably damaging Het
Npl T C 1: 153,391,152 (GRCm39) D201G probably damaging Het
Or1af1 A G 2: 37,109,885 (GRCm39) N128S probably benign Het
Or8b1c C A 9: 38,384,120 (GRCm39) P26T probably damaging Het
Or8k3 A G 2: 86,059,037 (GRCm39) S93P probably benign Het
Pclo T C 5: 14,732,397 (GRCm39) probably benign Het
Pdp2 A G 8: 105,321,168 (GRCm39) D339G probably benign Het
Pfdn6 A T 17: 34,159,014 (GRCm39) Y16* probably null Het
Pilra C T 5: 137,833,588 (GRCm39) probably null Het
Prrc2a A T 17: 35,374,590 (GRCm39) N1353K probably benign Het
Prss3l T A 6: 41,422,984 (GRCm39) I6F probably benign Het
Ptger4 C A 15: 5,272,545 (GRCm39) A50S probably benign Het
Pus10 T C 11: 23,622,707 (GRCm39) V109A probably benign Het
Rab44 A G 17: 29,358,168 (GRCm39) N119D probably benign Het
Rasgrp2 T C 19: 6,454,876 (GRCm39) probably benign Het
Rhobtb2 T A 14: 70,033,438 (GRCm39) I511F probably damaging Het
Sfxn1 C A 13: 54,246,457 (GRCm39) A167D probably benign Het
Slc12a6 A G 2: 112,188,111 (GRCm39) probably null Het
Smyd4 C T 11: 75,281,558 (GRCm39) L344F probably damaging Het
Srsf11 A G 3: 157,728,972 (GRCm39) V93A probably benign Het
Tle1 A G 4: 72,063,581 (GRCm39) I224T possibly damaging Het
Tmc6 A T 11: 117,663,868 (GRCm39) S479R possibly damaging Het
Tmprss4 T C 9: 45,087,702 (GRCm39) M296V probably benign Het
Togaram1 A G 12: 65,013,894 (GRCm39) N382D possibly damaging Het
Tpcn1 A G 5: 120,677,322 (GRCm39) S662P probably damaging Het
Tppp G T 13: 74,178,983 (GRCm39) R141S probably benign Het
Ttc21a A G 9: 119,790,828 (GRCm39) D858G possibly damaging Het
Tuba3a A G 6: 125,258,130 (GRCm39) S287P possibly damaging Het
Unc80 T G 1: 66,710,821 (GRCm39) S2697A probably benign Het
Vmn1r69 A G 7: 10,314,026 (GRCm39) V235A probably benign Het
Vmn2r26 T A 6: 124,038,375 (GRCm39) I650N probably damaging Het
Vmn2r53 G A 7: 12,315,932 (GRCm39) T629I possibly damaging Het
Vmn2r74 T C 7: 85,610,555 (GRCm39) T46A probably benign Het
Vmn2r84 A T 10: 130,229,973 (GRCm39) C46* probably null Het
Vps13b T C 15: 35,770,835 (GRCm39) S2093P probably benign Het
Wdfy4 T C 14: 32,711,893 (GRCm39) R2375G probably damaging Het
Wnk2 T G 13: 49,210,359 (GRCm39) E1820A probably damaging 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
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'- TGTGACACTGATATCACCAAAGG -3'
(R):5'- AGTCGGGTCTTAGTTAAAGCCTC -3'

Sequencing Primer
(F):5'- AGCAATATCACCTCACTGTCATTTC -3'
(R):5'- CGGGTCTTAGTTAAAGCCTCAAACAG -3'
Posted On 2015-10-08