Incidental Mutation 'R9678:Trub1'
ID 735794
Institutional Source Beutler Lab
Gene Symbol Trub1
Ensembl Gene ENSMUSG00000025086
Gene Name TruB pseudouridine (psi) synthase family member 1
Synonyms 9030425C13Rik, 2610009I02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9678 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 57441344-57479437 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57446549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 93 (N93I)
Ref Sequence ENSEMBL: ENSMUSP00000026073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026072] [ENSMUST00000026073]
AlphaFold Q8C0D0
Predicted Effect probably benign
Transcript: ENSMUST00000026072
AA Change: N93I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026072
Gene: ENSMUSG00000025086
AA Change: N93I

low complexity region 24 36 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
Pfam:TruB_N 94 239 2.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026073
AA Change: N93I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026073
Gene: ENSMUSG00000025086
AA Change: N93I

low complexity region 24 36 N/A INTRINSIC
low complexity region 42 57 N/A INTRINSIC
Pfam:TruB_N 94 243 2.1e-52 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,750,997 (GRCm39) N557S probably damaging Het
Atr C T 9: 95,792,610 (GRCm39) A1644V possibly damaging Het
C4b A G 17: 34,960,763 (GRCm39) probably null Het
Cdca2 A T 14: 67,937,778 (GRCm39) C292S unknown Het
Cdkn1c T C 7: 143,014,383 (GRCm39) D21G probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
Crnkl1 A T 2: 145,761,875 (GRCm39) S561T probably benign Het
Dock4 CGGTGC CGGTGCGGGTGC 12: 40,894,396 (GRCm39) probably benign Het
Dock4 TGCCGG TGCCGGCGCCGG 12: 40,894,387 (GRCm39) probably benign Het
Ehbp1 T C 11: 22,101,108 (GRCm39) D274G possibly damaging Het
Fsd2 T C 7: 81,209,449 (GRCm39) Y131C probably damaging Het
Gm10153 C A 7: 141,743,723 (GRCm39) C115F unknown Het
Gm10376 A T 14: 42,873,024 (GRCm39) M1K probably null Het
Gm10837 A T 14: 122,728,438 (GRCm39) K105* probably null Het
H3f3a A G 1: 180,637,680 (GRCm39) probably null Het
Igkv10-96 T A 6: 68,609,224 (GRCm39) M24L probably benign Het
Inpp4a T C 1: 37,405,952 (GRCm39) S157P probably damaging Het
Meaf6 A G 4: 124,996,689 (GRCm39) N133S possibly damaging Het
Nphp3 T C 9: 103,900,686 (GRCm39) V648A possibly damaging Het
Or1i2 C T 10: 78,447,717 (GRCm39) G253R probably damaging Het
Or5k17 A G 16: 58,746,640 (GRCm39) M98T probably benign Het
Parm1 A G 5: 91,742,144 (GRCm39) T171A possibly damaging Het
Pik3r1 G T 13: 101,839,289 (GRCm39) R188S probably damaging Het
Rbsn T C 6: 92,188,619 (GRCm39) H32R probably damaging Het
Sdk2 G T 11: 113,685,789 (GRCm39) Y1910* probably null Het
Slfn8 T C 11: 82,907,723 (GRCm39) I273M probably damaging Het
Sult1a1 C T 7: 126,273,536 (GRCm39) V132I probably benign Het
Tagln3 T A 16: 45,544,605 (GRCm39) Y22F probably damaging Het
Tenm4 A G 7: 96,386,619 (GRCm39) E575G possibly damaging Het
Trim24 T C 6: 37,942,449 (GRCm39) V987A probably damaging Het
Trpm7 C A 2: 126,686,290 (GRCm39) V313F probably damaging Het
Ugdh A G 5: 65,581,470 (GRCm39) V60A possibly damaging Het
Ugt2b5 A C 5: 87,273,186 (GRCm39) D493E probably damaging Het
Utrn G T 10: 12,615,159 (GRCm39) D337E probably benign Het
Vmn2r14 A G 5: 109,364,041 (GRCm39) L625P probably damaging Het
Vmn2r89 A G 14: 51,693,511 (GRCm39) D287G probably benign Het
Xirp2 A T 2: 67,339,788 (GRCm39) E676D possibly damaging Het
Zbbx A G 3: 75,046,841 (GRCm39) L26P probably damaging Het
Other mutations in Trub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Trub1 APN 19 57,441,616 (GRCm39) missense possibly damaging 0.54
IGL02073:Trub1 APN 19 57,441,379 (GRCm39) start codon destroyed probably benign 0.00
IGL02507:Trub1 APN 19 57,472,009 (GRCm39) splice site probably benign
R0299:Trub1 UTSW 19 57,472,057 (GRCm39) missense possibly damaging 0.90
R0940:Trub1 UTSW 19 57,473,495 (GRCm39) splice site probably benign
R1144:Trub1 UTSW 19 57,473,563 (GRCm39) missense probably benign 0.30
R1162:Trub1 UTSW 19 57,461,191 (GRCm39) missense probably benign 0.05
R1837:Trub1 UTSW 19 57,441,461 (GRCm39) missense probably benign
R2112:Trub1 UTSW 19 57,473,646 (GRCm39) critical splice donor site probably null
R3957:Trub1 UTSW 19 57,473,798 (GRCm39) missense possibly damaging 0.90
R7307:Trub1 UTSW 19 57,461,135 (GRCm39) missense probably damaging 1.00
R8122:Trub1 UTSW 19 57,473,563 (GRCm39) missense probably benign
R9168:Trub1 UTSW 19 57,452,859 (GRCm39) critical splice donor site probably null
R9772:Trub1 UTSW 19 57,472,075 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-11-14