Incidental Mutation 'R7307:Trub1'
ID 567358
Institutional Source Beutler Lab
Gene Symbol Trub1
Ensembl Gene ENSMUSG00000025086
Gene Name TruB pseudouridine (psi) synthase family member 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7307 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 57452906-57491005 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57472703 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 137 (Y137F)
Ref Sequence ENSEMBL: ENSMUSP00000026073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026072] [ENSMUST00000026073]
AlphaFold Q8C0D0
Predicted Effect probably damaging
Transcript: ENSMUST00000026072
AA Change: Y137F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026072
Gene: ENSMUSG00000025086
AA Change: Y137F

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 damaging
Transcript: ENSMUST00000026073
AA Change: Y137F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026073
Gene: ENSMUSG00000025086
AA Change: Y137F

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,395 P155L probably benign Het
Adamts12 G T 15: 11,217,813 L285F probably damaging Het
Ankrd6 A T 4: 32,816,949 Y393N possibly damaging Het
Arhgap45 A G 10: 80,029,182 Q993R probably benign Het
Arhgef33 G C 17: 80,347,120 probably null Het
B4galnt3 T C 6: 120,215,431 D448G probably benign Het
Capn1 C G 19: 5,993,908 E564D possibly damaging Het
Ccdc85a A G 11: 28,399,384 S474P probably benign Het
Cdk12 T A 11: 98,249,800 L1289* probably null Het
Cramp1l A T 17: 24,974,745 N920K possibly damaging Het
Cubn C T 2: 13,340,332 S2091N probably damaging Het
Ddx1 A T 12: 13,223,959 I581N probably damaging Het
Dnm2 A T 9: 21,485,687 N487Y probably damaging Het
Enc1 A C 13: 97,245,093 N37T probably damaging Het
Ephb3 T G 16: 21,222,226 I932S probably benign Het
Frk T A 10: 34,591,938 M316K probably damaging Het
Gdap2 C T 3: 100,202,033 R25C unknown Het
Gm10436 A C 12: 88,181,749 C32W probably damaging Het
Gpat2 T A 2: 127,434,890 D671E probably damaging Het
Gpr179 C T 11: 97,338,846 E828K probably benign Het
Greb1l T C 18: 10,538,142 Y1052H probably damaging Het
Gtf2f1 C T 17: 57,007,833 S69N probably damaging Het
Hid1 A C 11: 115,348,482 I785S probably damaging Het
Hmcn2 T C 2: 31,343,081 I214T probably damaging Het
Hsd3b5 G T 3: 98,619,769 F120L probably damaging Het
Kif16b C T 2: 142,712,931 R649Q probably benign Het
Kif17 A T 4: 138,262,643 E47D probably benign Het
Kmt2b T C 7: 30,580,471 H1368R probably damaging Het
Kmt2d A T 15: 98,849,418 S3342T unknown Het
Krt82 A G 15: 101,542,907 C356R probably damaging Het
Lrit2 A G 14: 37,072,199 K407E probably benign Het
Malt1 T A 18: 65,451,569 H325Q possibly damaging Het
Mccc2 T G 13: 99,988,600 D187A possibly damaging Het
Mgll T A 6: 88,814,121 probably null Het
Mindy2 T G 9: 70,610,959 E449A possibly damaging Het
Muc5b G A 7: 141,842,294 V96M unknown Het
Nlrp4e A G 7: 23,321,528 E480G probably benign Het
Nup98 A G 7: 102,134,795 I1093T probably benign Het
Olfr1288 A T 2: 111,478,760 probably benign Het
Olfr243 G T 7: 103,716,966 R124L probably damaging Het
Olfr350 G A 2: 36,850,125 M26I probably benign Het
Olfr541 G A 7: 140,705,147 V299I probably benign Het
Pcdhb6 A T 18: 37,335,478 H484L probably benign Het
Phldb1 T C 9: 44,694,047 T604A possibly damaging Het
Pitpnm3 G T 11: 72,070,964 A275D probably damaging Het
Polr2a A T 11: 69,747,292 probably null Het
Polr3a A G 14: 24,459,987 C960R probably benign Het
Pou6f2 G A 13: 18,239,713 A159V Het
Pramef6 A C 4: 143,896,775 Y276* probably null Het
Psmc4 A G 7: 28,042,660 V303A probably benign Het
Ptdss2 A G 7: 141,151,732 N151S possibly damaging Het
Ptprk T A 10: 28,589,008 Y1295* probably null Het
Rbm19 A G 5: 120,186,218 K881E possibly damaging Het
Rcan2 T A 17: 44,021,102 Y183* probably null Het
Rnd1 T C 15: 98,670,799 E166G probably damaging Het
Rnf113a2 T A 12: 84,418,179 C282S probably damaging Het
S100b G A 10: 76,257,092 G20R probably benign Het
Sae1 G T 7: 16,368,544 Y168* probably null Het
Samd9l C A 6: 3,372,600 G1554* probably null Het
Samhd1 T C 2: 157,135,020 S55G probably benign Het
Sgsm1 T C 5: 113,273,646 D525G probably benign Het
Slc28a3 A T 13: 58,563,172 M512K probably damaging Het
Slc9b2 T A 3: 135,318,390 N67K probably benign Het
Smarca4 T A 9: 21,638,800 I402N probably damaging Het
St7l T C 3: 104,889,353 F261L probably benign Het
Syde2 T A 3: 146,015,798 V1140D probably damaging Het
Syt6 T A 3: 103,587,472 I251N probably damaging Het
Taok2 T C 7: 126,866,818 E916G probably damaging Het
Tecta A G 9: 42,377,992 S426P probably damaging Het
Thra T C 11: 98,764,308 I338T probably damaging Het
Vps13b T C 15: 35,841,545 F2574L probably benign Het
Ythdf3 T C 3: 16,183,500 S2P possibly damaging Het
Zc3h13 T A 14: 75,330,541 D1091E probably damaging Het
Zdhhc6 A G 19: 55,313,250 Y100H probably damaging Het
Other mutations in Trub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01633:Trub1 APN 19 57453184 missense possibly damaging 0.54
IGL02073:Trub1 APN 19 57452947 start codon destroyed probably benign 0.00
IGL02507:Trub1 APN 19 57483577 splice site probably benign
R0299:Trub1 UTSW 19 57483625 missense possibly damaging 0.90
R0940:Trub1 UTSW 19 57485063 splice site probably benign
R1144:Trub1 UTSW 19 57485131 missense probably benign 0.30
R1162:Trub1 UTSW 19 57472759 missense probably benign 0.05
R1837:Trub1 UTSW 19 57453029 missense probably benign
R2112:Trub1 UTSW 19 57485214 critical splice donor site probably null
R3957:Trub1 UTSW 19 57485366 missense possibly damaging 0.90
R8122:Trub1 UTSW 19 57485131 missense probably benign
R9168:Trub1 UTSW 19 57464427 critical splice donor site probably null
R9678:Trub1 UTSW 19 57458117 missense probably benign 0.00
R9772:Trub1 UTSW 19 57483643 missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGGGCTCCCAGATGCTTCC -3'
(R):5'- CATTGAGCCACTGGTTTGTTTTAATTC -3'

Sequencing Primer
(F):5'- TCCCAGATGCTTCCCACAC -3'
(R):5'- GGCTGAGCTAGAACTTGCAATCTTC -3'
Posted On 2019-06-26