Incidental Mutation 'R4127:Pus10'
ID 315448
Institutional Source Beutler Lab
Gene Symbol Pus10
Ensembl Gene ENSMUSG00000020280
Gene Name pseudouridylate synthase 10
Synonyms Ccdc139, 4933435A13Rik, 2810013G11Rik
MMRRC Submission 040860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4127 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 23615674-23682876 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 23668654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020520] [ENSMUST00000058163] [ENSMUST00000109525]
AlphaFold Q9D3U0
Predicted Effect probably null
Transcript: ENSMUST00000020520
SMART Domains Protein: ENSMUSP00000020520
Gene: ENSMUSG00000020280

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect probably null
Transcript: ENSMUST00000058163
SMART Domains Protein: ENSMUSP00000050395
Gene: ENSMUSG00000020280

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect probably null
Transcript: ENSMUST00000109525
SMART Domains Protein: ENSMUSP00000105151
Gene: ENSMUSG00000020280

DomainStartEndE-ValueType
PDB:2V9K|A 1 527 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142287
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,141,973 (GRCm39) H3R probably benign Het
Actg2 A T 6: 83,499,866 (GRCm39) F128Y possibly damaging Het
Ankrd6 G A 4: 32,822,241 (GRCm39) T176M probably damaging Het
Atp6ap1l T C 13: 91,046,826 (GRCm39) D117G probably damaging Het
Cd209b A G 8: 3,968,714 (GRCm39) I284T probably damaging Het
Cfl2 C T 12: 54,908,143 (GRCm39) A123T probably benign Het
Cgnl1 T C 9: 71,631,822 (GRCm39) T510A probably benign Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Cyfip2 T C 11: 46,161,474 (GRCm39) I339V probably benign Het
Etl4 C T 2: 20,748,886 (GRCm39) P539L possibly damaging Het
Fras1 A G 5: 96,918,512 (GRCm39) D3516G probably benign Het
Frem2 T C 3: 53,433,317 (GRCm39) Y2669C probably damaging Het
Gga2 G T 7: 121,601,943 (GRCm39) H205N probably damaging Het
Gm5592 G A 7: 40,938,491 (GRCm39) G591D probably benign Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Heatr3 T A 8: 88,864,939 (GRCm39) C59S probably damaging Het
Heatr5b A G 17: 79,060,603 (GRCm39) M2024T possibly damaging Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Lzts3 A G 2: 130,477,285 (GRCm39) S502P probably damaging Het
Or5d36 A G 2: 87,901,579 (GRCm39) V49A probably benign Het
Pcdhb2 A T 18: 37,428,594 (GRCm39) D189V probably damaging Het
Pias3 G T 3: 96,606,982 (GRCm39) G82C probably damaging Het
Polg T C 7: 79,105,285 (GRCm39) E753G probably damaging Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Rag1 A G 2: 101,472,416 (GRCm39) Y909H probably damaging Het
Rell2 A G 18: 38,091,267 (GRCm39) H144R probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 C T 13: 11,602,323 (GRCm39) V4520I possibly damaging Het
Scp2 A G 4: 107,921,181 (GRCm39) F10L probably benign Het
Slc9b2 T C 3: 135,035,598 (GRCm39) Y356H probably benign Het
Sorcs1 T C 19: 50,210,597 (GRCm39) D756G probably benign Het
Stra6 T A 9: 58,058,501 (GRCm39) V454E probably damaging Het
Tbc1d8 T C 1: 39,411,512 (GRCm39) N1108S probably benign Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Tmem132d T C 5: 128,345,884 (GRCm39) R213G probably benign Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Xcr1 A C 9: 123,685,561 (GRCm39) V67G probably damaging Het
Zranb2 C A 3: 157,243,227 (GRCm39) C74* probably null Het
Other mutations in Pus10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Pus10 APN 11 23,657,548 (GRCm39) nonsense probably null
IGL02304:Pus10 APN 11 23,662,275 (GRCm39) missense probably damaging 1.00
IGL02466:Pus10 APN 11 23,675,574 (GRCm39) missense probably damaging 0.99
IGL02967:Pus10 APN 11 23,668,602 (GRCm39) missense probably damaging 1.00
IGL03233:Pus10 APN 11 23,662,241 (GRCm39) missense probably damaging 1.00
IGL03300:Pus10 APN 11 23,681,368 (GRCm39) utr 3 prime probably benign
PIT4486001:Pus10 UTSW 11 23,662,326 (GRCm39) critical splice donor site probably null
PIT4677001:Pus10 UTSW 11 23,670,171 (GRCm39) missense possibly damaging 0.88
R0166:Pus10 UTSW 11 23,617,358 (GRCm39) missense probably damaging 1.00
R0440:Pus10 UTSW 11 23,623,331 (GRCm39) unclassified probably benign
R0519:Pus10 UTSW 11 23,661,201 (GRCm39) missense probably benign 0.02
R1583:Pus10 UTSW 11 23,623,239 (GRCm39) missense probably damaging 0.96
R1714:Pus10 UTSW 11 23,675,542 (GRCm39) missense probably damaging 1.00
R1941:Pus10 UTSW 11 23,661,198 (GRCm39) missense possibly damaging 0.60
R3687:Pus10 UTSW 11 23,617,334 (GRCm39) missense probably benign
R3688:Pus10 UTSW 11 23,617,334 (GRCm39) missense probably benign
R3854:Pus10 UTSW 11 23,653,003 (GRCm39) critical splice donor site probably null
R4064:Pus10 UTSW 11 23,678,983 (GRCm39) missense probably damaging 1.00
R4276:Pus10 UTSW 11 23,656,895 (GRCm39) missense probably damaging 1.00
R4655:Pus10 UTSW 11 23,622,707 (GRCm39) missense probably benign 0.02
R5302:Pus10 UTSW 11 23,617,416 (GRCm39) critical splice donor site probably null
R5580:Pus10 UTSW 11 23,622,556 (GRCm39) missense probably benign 0.16
R6196:Pus10 UTSW 11 23,622,638 (GRCm39) missense probably benign 0.15
R6549:Pus10 UTSW 11 23,679,075 (GRCm39) critical splice donor site probably null
R6722:Pus10 UTSW 11 23,652,975 (GRCm39) missense possibly damaging 0.93
R6724:Pus10 UTSW 11 23,679,037 (GRCm39) missense possibly damaging 0.78
R9140:Pus10 UTSW 11 23,622,625 (GRCm39) missense probably benign 0.00
R9351:Pus10 UTSW 11 23,617,311 (GRCm39) missense probably benign 0.00
R9390:Pus10 UTSW 11 23,656,937 (GRCm39) missense probably damaging 1.00
R9404:Pus10 UTSW 11 23,661,202 (GRCm39) missense possibly damaging 0.88
X0064:Pus10 UTSW 11 23,658,743 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CAGAAGCCCTATTACTCTCATACTC -3'
(R):5'- GCACATCCATCCTTACCTGG -3'

Sequencing Primer
(F):5'- ACTAAGCTCTCAGTCCTGGAG -3'
(R):5'- CTTACCTGGTGACAAGCTGCAAG -3'
Posted On 2015-05-14