Incidental Mutation 'R6927:Puf60'
ID 541179
Institutional Source Beutler Lab
Gene Symbol Puf60
Ensembl Gene ENSMUSG00000002524
Gene Name poly-U binding splicing factor 60
Synonyms 2410104I19Rik, 2810454F19Rik
MMRRC Submission 045044-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6927 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 75942031-75952773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75947663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 49 (M49L)
Ref Sequence ENSEMBL: ENSMUSP00000098096 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000100527] [ENSMUST00000227316] [ENSMUST00000230924]
AlphaFold Q3UEB3
Predicted Effect probably benign
Transcript: ENSMUST00000002599
AA Change: M49L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524
AA Change: M49L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
RRM 118 191 1.21e-22 SMART
RRM 215 288 1.6e-22 SMART
low complexity region 290 338 N/A INTRINSIC
low complexity region 400 420 N/A INTRINSIC
RRM 451 533 7.68e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100527
AA Change: M49L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524
AA Change: M49L

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
RRM 135 208 1.21e-22 SMART
RRM 232 305 1.6e-22 SMART
low complexity region 307 355 N/A INTRINSIC
low complexity region 417 437 N/A INTRINSIC
RRM 468 550 7.68e-2 SMART
Predicted Effect unknown
Transcript: ENSMUST00000227316
AA Change: D63V
Predicted Effect unknown
Transcript: ENSMUST00000230924
AA Change: D60V
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,317 (GRCm39) W229R probably damaging Het
Adck2 T C 6: 39,560,998 (GRCm39) probably null Het
Ahi1 A T 10: 20,930,968 (GRCm39) N936I probably damaging Het
Ass1 T C 2: 31,404,813 (GRCm39) S365P probably damaging Het
Atp9b T C 18: 80,935,072 (GRCm39) K208E possibly damaging Het
Bag6 G A 17: 35,364,898 (GRCm39) probably null Het
Bptf A T 11: 106,945,421 (GRCm39) V2491E probably damaging Het
Cd300ld2 T A 11: 114,904,619 (GRCm39) R83W probably damaging Het
Chrnd T C 1: 87,126,434 (GRCm39) F396L probably damaging Het
Cyp3a13 G A 5: 137,893,546 (GRCm39) P439S probably damaging Het
Dnhd1 C A 7: 105,364,770 (GRCm39) H4279N probably damaging Het
Fam118a T C 15: 84,929,038 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fasn T A 11: 120,699,115 (GRCm39) D2386V probably benign Het
Fat1 G A 8: 45,477,532 (GRCm39) V2170I probably benign Het
Fdps T C 3: 89,000,958 (GRCm39) R374G probably benign Het
Fhl5 T C 4: 25,213,681 (GRCm39) D85G probably benign Het
Flvcr1 T C 1: 190,757,861 (GRCm39) M144V possibly damaging Het
Gask1b T C 3: 79,848,769 (GRCm39) I505T probably damaging Het
Gpr31b A G 17: 13,270,765 (GRCm39) S135P probably damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Hoxc5 T A 15: 102,923,807 (GRCm39) I201N probably damaging Het
Ighv1-50 A T 12: 115,083,794 (GRCm39) W3R probably damaging Het
Impa1 A G 3: 10,380,348 (GRCm39) I208T probably benign Het
Iqcj T C 3: 67,954,624 (GRCm39) L43P possibly damaging Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Kdm4b T C 17: 56,706,435 (GRCm39) C850R probably damaging Het
Krt25 A T 11: 99,208,205 (GRCm39) I341N probably damaging Het
L3mbtl3 T A 10: 26,168,567 (GRCm39) R621* probably null Het
Lipm T C 19: 34,078,563 (GRCm39) probably benign Het
Macrod2 A T 2: 142,098,441 (GRCm39) D286V probably damaging Het
Mad2l2 T A 4: 148,225,411 (GRCm39) V27E possibly damaging Het
Map4k4 T A 1: 40,050,842 (GRCm39) H768Q probably benign Het
Mgat4d A G 8: 84,081,496 (GRCm39) N83S probably benign Het
Nucb1 C T 7: 45,148,282 (GRCm39) R141H possibly damaging Het
Or2t46 A G 11: 58,472,491 (GRCm39) K274E possibly damaging Het
Pcdhga2 A C 18: 37,803,719 (GRCm39) D521A probably damaging Het
Pcnx1 T C 12: 81,964,586 (GRCm39) V251A probably benign Het
Pdf A T 8: 107,774,833 (GRCm39) M133K probably damaging Het
Piezo2 A G 18: 63,166,057 (GRCm39) F2058S probably damaging Het
Plekhb2 T A 1: 34,915,982 (GRCm39) probably null Het
Ppp2r3d G C 9: 101,052,547 (GRCm39) H221D probably damaging Het
Prl2c5 A T 13: 13,357,503 (GRCm39) probably null Het
Rdh16f1 T C 10: 127,624,561 (GRCm39) V133A probably benign Het
Robo2 T A 16: 73,778,946 (GRCm39) D389V probably damaging Het
Slc22a23 G T 13: 34,528,362 (GRCm39) A140D probably benign Het
Slc25a42 A G 8: 70,641,573 (GRCm39) L136P probably damaging Het
Slc36a3 T A 11: 55,020,519 (GRCm39) M284L probably damaging Het
Tas2r115 T A 6: 132,714,895 (GRCm39) I19F probably damaging Het
Tmc2 A G 2: 130,103,300 (GRCm39) H812R probably benign Het
Vmn2r26 A G 6: 124,016,057 (GRCm39) S174G possibly damaging Het
Vstm4 T A 14: 32,585,959 (GRCm39) probably null Het
Vwc2 C A 11: 11,104,250 (GRCm39) P261T probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp335 A G 2: 164,735,640 (GRCm39) C1105R probably damaging Het
Zfp488 A G 14: 33,692,755 (GRCm39) L136P probably benign Het
Zzef1 G A 11: 72,803,983 (GRCm39) R2575H probably damaging Het
Other mutations in Puf60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02406:Puf60 APN 15 75,946,458 (GRCm39) missense probably damaging 0.98
IGL02468:Puf60 APN 15 75,947,685 (GRCm39) splice site probably benign
IGL03252:Puf60 APN 15 75,943,699 (GRCm39) missense probably damaging 1.00
IGL03256:Puf60 APN 15 75,942,445 (GRCm39) missense possibly damaging 0.47
IGL03344:Puf60 APN 15 75,942,229 (GRCm39) missense possibly damaging 0.83
R0194:Puf60 UTSW 15 75,942,334 (GRCm39) missense probably damaging 1.00
R0688:Puf60 UTSW 15 75,942,623 (GRCm39) missense probably damaging 1.00
R1746:Puf60 UTSW 15 75,942,633 (GRCm39) missense probably benign 0.08
R1770:Puf60 UTSW 15 75,942,723 (GRCm39) missense probably benign 0.00
R1782:Puf60 UTSW 15 75,943,724 (GRCm39) missense probably benign 0.32
R1818:Puf60 UTSW 15 75,943,323 (GRCm39) missense possibly damaging 0.91
R2172:Puf60 UTSW 15 75,942,313 (GRCm39) missense probably damaging 1.00
R4726:Puf60 UTSW 15 75,944,183 (GRCm39) splice site probably null
R5049:Puf60 UTSW 15 75,942,323 (GRCm39) missense probably damaging 1.00
R7199:Puf60 UTSW 15 75,943,717 (GRCm39) missense probably damaging 0.99
R7240:Puf60 UTSW 15 75,944,388 (GRCm39) unclassified probably benign
R8784:Puf60 UTSW 15 75,949,525 (GRCm39) missense unknown
R9058:Puf60 UTSW 15 75,944,382 (GRCm39) missense probably benign 0.07
R9058:Puf60 UTSW 15 75,942,425 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GTTTCACCAGCACACTCTTG -3'
(R):5'- CTGCATTCTAACCAGGCAGG -3'

Sequencing Primer
(F):5'- CATATTTCTTGGCCTGCAAGAG -3'
(R):5'- TTCTAACCAGGCAGGAGATAGTTTG -3'
Posted On 2018-11-28