Incidental Mutation 'R1782:Puf60'
ID 195431
Institutional Source Beutler Lab
Gene Symbol Puf60
Ensembl Gene ENSMUSG00000002524
Gene Name poly-U binding splicing factor 60
Synonyms 2410104I19Rik, 2810454F19Rik
MMRRC Submission 039813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R1782 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 75942031-75952773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75943724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 216 (I216L)
Ref Sequence ENSEMBL: ENSMUSP00000002599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000227316] [ENSMUST00000230924]
AlphaFold Q3UEB3
Predicted Effect probably benign
Transcript: ENSMUST00000002599
AA Change: I216L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524
AA Change: I216L

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: ENSMUST00000002603
SMART Domains Protein: ENSMUSP00000002603
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1306 1321 N/A INTRINSIC
coiled coil region 1390 1420 N/A INTRINSIC
low complexity region 1452 1464 N/A INTRINSIC
low complexity region 1498 1515 N/A INTRINSIC
low complexity region 1549 1560 N/A INTRINSIC
low complexity region 1648 1665 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063747
SMART Domains Protein: ENSMUSP00000068056
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1595 1612 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100527
AA Change: I233L

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524
AA Change: I233L

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 probably benign
Transcript: ENSMUST00000109946
SMART Domains Protein: ENSMUSP00000105572
Gene: ENSMUSG00000022568

DomainStartEndE-ValueType
LRR 58 80 1.99e0 SMART
LRR 81 104 2.54e2 SMART
LRR 127 149 3.56e2 SMART
LRR 150 172 2.33e1 SMART
LRR 173 195 2.45e0 SMART
LRR_TYP 196 218 7.78e-3 SMART
LRR 219 241 7.79e0 SMART
LRR 242 265 1.41e0 SMART
LRR 288 310 2.47e2 SMART
LRR_TYP 311 334 2.36e-2 SMART
LRR 335 356 7.8e1 SMART
LRR 357 380 1.22e2 SMART
low complexity region 455 466 N/A INTRINSIC
low complexity region 502 511 N/A INTRINSIC
coiled coil region 653 685 N/A INTRINSIC
PDZ 722 801 2e-23 SMART
low complexity region 822 837 N/A INTRINSIC
PDZ 856 936 1.23e-23 SMART
low complexity region 941 965 N/A INTRINSIC
low complexity region 968 978 N/A INTRINSIC
PDZ 998 1079 6.7e-25 SMART
PDZ 1095 1178 3.88e-21 SMART
low complexity region 1282 1293 N/A INTRINSIC
coiled coil region 1362 1392 N/A INTRINSIC
low complexity region 1424 1436 N/A INTRINSIC
low complexity region 1470 1487 N/A INTRINSIC
low complexity region 1521 1532 N/A INTRINSIC
low complexity region 1620 1637 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229496
Predicted Effect probably benign
Transcript: ENSMUST00000227316
Predicted Effect probably benign
Transcript: ENSMUST00000230924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230143
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,971 (GRCm39) T2573S probably benign Het
Adgra3 G T 5: 50,129,404 (GRCm39) T738K probably benign Het
Adgrl4 C T 3: 151,248,442 (GRCm39) Q705* probably null Het
Atp2b1 T G 10: 98,839,063 (GRCm39) D630E probably benign Het
Atp2c1 G A 9: 105,308,786 (GRCm39) R577C probably damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
C8g T A 2: 25,389,094 (GRCm39) D163V possibly damaging Het
Catsper1 T C 19: 5,385,937 (GRCm39) Y57H probably benign Het
Ccdc25 C T 14: 66,091,597 (GRCm39) A72V probably benign Het
Cdca2 T G 14: 67,915,260 (GRCm39) E666D probably benign Het
Cdh23 G A 10: 60,324,321 (GRCm39) T313I probably damaging Het
Cfap57 C A 4: 118,472,172 (GRCm39) R69L probably damaging Het
Chat C A 14: 32,130,944 (GRCm39) V566L probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Cog1 A G 11: 113,544,792 (GRCm39) T325A probably benign Het
Cxcl10 A G 5: 92,495,662 (GRCm39) *94Q probably null Het
Cyp4a12b T C 4: 115,291,178 (GRCm39) Y369H probably damaging Het
Dhx33 T C 11: 70,892,466 (GRCm39) Y101C probably damaging Het
Dock6 A G 9: 21,723,142 (GRCm39) M1593T probably damaging Het
Dpy19l3 T C 7: 35,407,580 (GRCm39) T488A possibly damaging Het
Elapor2 A T 5: 9,471,620 (GRCm39) K320N possibly damaging Het
Fbxw14 A G 9: 109,107,759 (GRCm39) I205T possibly damaging Het
Fbxw7 T C 3: 84,811,126 (GRCm39) F84L probably benign Het
Flii T C 11: 60,605,462 (GRCm39) T1212A probably benign Het
Fosl1 T A 19: 5,500,210 (GRCm39) I43N probably damaging Het
Gabrr2 G A 4: 33,085,593 (GRCm39) A338T probably damaging Het
Gask1b T C 3: 79,793,838 (GRCm39) L102S possibly damaging Het
Gatad2b T C 3: 90,249,178 (GRCm39) V72A probably benign Het
Gorasp1 G T 9: 119,761,888 (GRCm39) N48K probably damaging Het
Gramd1b C A 9: 40,324,633 (GRCm39) D139Y probably damaging Het
Gtf3c1 A T 7: 125,266,246 (GRCm39) V1030E probably damaging Het
Havcr2 C T 11: 46,345,844 (GRCm39) T6I unknown Het
Hgs A G 11: 120,369,331 (GRCm39) E340G probably damaging Het
Irx2 A G 13: 72,779,585 (GRCm39) T290A probably benign Het
Itgb8 T A 12: 119,155,853 (GRCm39) I200F probably damaging Het
Josd2 A G 7: 44,120,577 (GRCm39) I105V probably damaging Het
Kcnh7 T A 2: 62,566,513 (GRCm39) D806V probably damaging Het
Kctd8 A G 5: 69,498,319 (GRCm39) V109A possibly damaging Het
Kmt2d T A 15: 98,755,429 (GRCm39) probably benign Het
Krtap2-4 A T 11: 99,505,353 (GRCm39) V86E probably damaging Het
Lgr6 C G 1: 134,915,717 (GRCm39) V344L probably damaging Het
Lime1 A T 2: 181,024,849 (GRCm39) R168W possibly damaging Het
Macroh2a1 A T 13: 56,222,134 (GRCm39) M339K probably damaging Het
Magel2 C T 7: 62,030,605 (GRCm39) Q1170* probably null Het
Ndufaf3 A T 9: 108,443,210 (GRCm39) I169N probably damaging Het
Neb T A 2: 52,174,357 (GRCm39) K1501* probably null Het
Nim1k A T 13: 120,173,687 (GRCm39) S402R probably benign Het
Nt5dc2 T G 14: 30,860,158 (GRCm39) S395R probably damaging Het
Oaz2 G T 9: 65,596,143 (GRCm39) V132L probably benign Het
Or2t45 T A 11: 58,669,631 (GRCm39) L226H probably damaging Het
Or4l1 A T 14: 50,166,096 (GRCm39) W302R probably benign Het
Or5b104 T A 19: 13,072,167 (GRCm39) I282F probably damaging Het
Or7g25 C T 9: 19,159,877 (GRCm39) V273I probably benign Het
Or8k39 T C 2: 86,563,026 (GRCm39) K310R probably benign Het
Pfkl A G 10: 77,824,554 (GRCm39) V717A probably benign Het
Phf8-ps T C 17: 33,286,662 (GRCm39) I47V probably benign Het
Phgdh C T 3: 98,228,063 (GRCm39) V231I probably damaging Het
Pkhd1 A T 1: 20,635,935 (GRCm39) M465K probably damaging Het
Ppp3r1 A G 11: 17,148,281 (GRCm39) H163R probably benign Het
Prune2 T A 19: 17,099,537 (GRCm39) N1680K probably benign Het
Rev3l T A 10: 39,675,881 (GRCm39) N190K probably benign Het
Rp1 G A 1: 4,419,312 (GRCm39) S600L probably benign Het
Rpl3l A G 17: 24,952,430 (GRCm39) I217V probably benign Het
Scly T A 1: 91,236,102 (GRCm39) V194D probably damaging Het
Scnn1b A G 7: 121,517,184 (GRCm39) T607A probably benign Het
Slc13a3 G A 2: 165,287,439 (GRCm39) L172F probably benign Het
Sorbs2 A G 8: 46,258,733 (GRCm39) Y1090C probably damaging Het
Spag17 T A 3: 99,918,070 (GRCm39) M351K probably benign Het
St14 A G 9: 31,011,460 (GRCm39) Y444H probably damaging Het
Taf8 C A 17: 47,809,136 (GRCm39) A109S probably benign Het
Tbc1d30 T A 10: 121,103,525 (GRCm39) K502N probably damaging Het
Them5 T C 3: 94,251,796 (GRCm39) S136P probably benign Het
Tmem248 T A 5: 130,260,769 (GRCm39) N111K probably damaging Het
Tmem74 C A 15: 43,730,348 (GRCm39) V232L probably damaging Het
Tnip2 A T 5: 34,657,012 (GRCm39) H264Q probably benign Het
Trim5 A G 7: 103,915,023 (GRCm39) probably null Het
Trim63 A G 4: 134,050,349 (GRCm39) Q211R probably benign Het
Trrap T C 5: 144,759,513 (GRCm39) V2231A possibly damaging Het
Ttn T C 2: 76,565,831 (GRCm39) S28174G probably benign Het
Ugt2b36 T C 5: 87,229,440 (GRCm39) D341G possibly damaging Het
Uroc1 G A 6: 90,313,901 (GRCm39) E63K probably damaging Het
Ush2a T C 1: 188,643,382 (GRCm39) V4248A probably benign Het
Usp1 A G 4: 98,822,435 (GRCm39) H583R probably damaging Het
Usp8 T A 2: 126,561,971 (GRCm39) F55Y probably damaging Het
Vmn2r13 T A 5: 109,306,040 (GRCm39) T513S probably benign Het
Wdr73 T C 7: 80,541,526 (GRCm39) T339A probably damaging Het
Wnt2 T A 6: 18,008,639 (GRCm39) N266I possibly damaging Het
Wwp2 AGAACT A 8: 108,233,031 (GRCm39) probably null 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
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
R6927:Puf60 UTSW 15 75,947,663 (GRCm39) missense probably benign
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'- TGGGACGACTGGGCCTTCTCATATTC -3'
(R):5'- CTTTGGAGCAGATGAACTCTGTGATGC -3'

Sequencing Primer
(F):5'- AGTAAGAGGCGGGCTCC -3'
(R):5'- tgggaggcagaggcagg -3'
Posted On 2014-05-23