Incidental Mutation 'IGL02073:Trub1'
ID 185893
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trub1
Ensembl Gene ENSMUSG00000025086
Gene Name TruB pseudouridine (psi) synthase family member 1
Synonyms 9030425C13Rik, 2610009I02Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02073
Quality Score
Status
Chromosome 19
Chromosomal Location 57441344-57479437 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 57441379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
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: M1L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026072
Gene: ENSMUSG00000025086
AA Change: M1L

DomainStartEndE-ValueType
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: M1L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000026073
Gene: ENSMUSG00000025086
AA Change: M1L

DomainStartEndE-ValueType
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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 156,914,039 (GRCm39) probably benign Het
6330409D20Rik T G 2: 32,630,698 (GRCm39) probably benign Het
Als2cl A G 9: 110,723,407 (GRCm39) K659E probably benign Het
Bbx G A 16: 50,022,854 (GRCm39) T702I probably damaging Het
Bcas3 A G 11: 85,448,263 (GRCm39) D405G probably damaging Het
Brpf3 A G 17: 29,026,370 (GRCm39) Y481C probably benign Het
Csnk1g1 T A 9: 65,909,533 (GRCm39) Y217N probably damaging Het
Cyp4f37 G T 17: 32,846,825 (GRCm39) V171L possibly damaging Het
Dock8 G A 19: 25,178,350 (GRCm39) probably null Het
Extl3 C A 14: 65,313,788 (GRCm39) G465W probably damaging Het
Fbxo10 A G 4: 45,046,349 (GRCm39) I587T possibly damaging Het
Fstl5 A C 3: 76,566,959 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,667,547 (GRCm39) N866S probably benign Het
Gm4871 T A 5: 144,969,388 (GRCm39) K44* probably null Het
Hnrnpul1 T C 7: 25,421,766 (GRCm39) probably benign Het
Jup A G 11: 100,274,215 (GRCm39) probably benign Het
Mccc2 A T 13: 100,136,783 (GRCm39) H57Q probably benign Het
Myo1a A T 10: 127,546,094 (GRCm39) D239V probably damaging Het
Ncapd3 T A 9: 26,974,612 (GRCm39) S695T probably benign Het
Ncor1 A T 11: 62,249,743 (GRCm39) S1052T probably damaging Het
Or5k8 A G 16: 58,644,169 (GRCm39) I301T probably benign Het
Or7g12 T A 9: 18,899,621 (GRCm39) N112K possibly damaging Het
Or8c10 C T 9: 38,279,603 (GRCm39) H244Y probably damaging Het
Pcnx3 A T 19: 5,729,414 (GRCm39) I526K probably damaging Het
Pcnx4 A G 12: 72,621,102 (GRCm39) D974G possibly damaging Het
Peg3 T C 7: 6,714,001 (GRCm39) E407G probably damaging Het
Polk A G 13: 96,641,059 (GRCm39) V166A probably damaging Het
Prkar2a A G 9: 108,610,322 (GRCm39) I184V probably damaging Het
Ptpra T C 2: 30,333,362 (GRCm39) S64P probably damaging Het
Rbsn A G 6: 92,166,340 (GRCm39) L768P probably damaging Het
Ripk3 C T 14: 56,023,482 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1b T C 11: 51,680,020 (GRCm39) probably benign Het
Slx A T X: 26,489,755 (GRCm39) W89R probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,070,104 (GRCm39) I2561V probably benign Het
Tasor2 T C 13: 3,624,721 (GRCm39) D1743G probably benign Het
Tm7sf3 A G 6: 146,525,208 (GRCm39) L79P possibly damaging Het
Unc80 A G 1: 66,651,386 (GRCm39) D1577G possibly damaging Het
Vat1 A T 11: 101,351,405 (GRCm39) M312K possibly damaging Het
Vmn1r17 T C 6: 57,337,787 (GRCm39) I193V probably benign Het
Vps13b A G 15: 35,875,732 (GRCm39) I2706V possibly damaging Het
Wls T C 3: 159,612,890 (GRCm39) probably null Het
Zfp955b A G 17: 33,519,564 (GRCm39) T11A possibly damaging Het
Other mutations in Trub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Trub1 APN 19 57,441,616 (GRCm39) missense possibly damaging 0.54
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
R9678:Trub1 UTSW 19 57,446,549 (GRCm39) missense probably benign 0.00
R9772:Trub1 UTSW 19 57,472,075 (GRCm39) missense probably benign 0.13
Posted On 2014-05-07