Incidental Mutation 'IGL03256:Puf60'
ID 414660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Puf60
Ensembl Gene ENSMUSG00000002524
Gene Name poly-U binding splicing factor 60
Synonyms 2410104I19Rik, 2810454F19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL03256
Quality Score
Status
Chromosome 15
Chromosomal Location 75942031-75952773 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75942445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 459 (D459V)
Ref Sequence ENSEMBL: ENSMUSP00000002599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002599] [ENSMUST00000002603] [ENSMUST00000063747] [ENSMUST00000100527] [ENSMUST00000109946] [ENSMUST00000230924] [ENSMUST00000227316]
AlphaFold Q3UEB3
Predicted Effect possibly damaging
Transcript: ENSMUST00000002599
AA Change: D459V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000002599
Gene: ENSMUSG00000002524
AA Change: D459V

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: D476V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000098096
Gene: ENSMUSG00000002524
AA Change: D476V

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: ENSMUST00000230968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230143
Predicted Effect probably benign
Transcript: ENSMUST00000230924
Predicted Effect probably benign
Transcript: ENSMUST00000227316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229496
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C T 8: 73,199,043 (GRCm39) T150I probably benign Het
Adam2 T C 14: 66,291,280 (GRCm39) N333D probably benign Het
Aifm3 G A 16: 17,324,174 (GRCm39) R578Q probably benign Het
Arid2 C A 15: 96,268,643 (GRCm39) Q919K probably benign Het
Atp6v1a T C 16: 43,931,451 (GRCm39) probably benign Het
Bicd1 A T 6: 149,415,083 (GRCm39) T599S probably benign Het
Bltp1 T C 3: 36,960,832 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,409,299 (GRCm39) R601W probably damaging Het
Clca3a2 A C 3: 144,792,153 (GRCm39) S369R possibly damaging Het
Cyfip1 T G 7: 55,557,182 (GRCm39) V795G possibly damaging Het
Ddb1 A G 19: 10,599,225 (GRCm39) T544A probably benign Het
Defb43 T C 14: 63,255,329 (GRCm39) I54T probably damaging Het
Dera A G 6: 137,756,643 (GRCm39) M89V probably benign Het
Fam227b T A 2: 125,830,923 (GRCm39) K427I probably damaging Het
Frk A G 10: 34,483,838 (GRCm39) I400V probably benign Het
Gk5 T A 9: 96,011,106 (GRCm39) L72H probably damaging Het
Gprc6a T A 10: 51,504,445 (GRCm39) Y133F possibly damaging Het
Hecw1 A G 13: 14,455,069 (GRCm39) L662P probably damaging Het
Hecw1 G T 13: 14,455,070 (GRCm39) L662M probably benign Het
Il12b T A 11: 44,298,757 (GRCm39) S71T probably benign Het
Kdm2a A T 19: 4,395,538 (GRCm39) probably benign Het
Lhfpl6 A G 3: 52,950,974 (GRCm39) R83G possibly damaging Het
Magel2 C A 7: 62,030,162 (GRCm39) T1022K unknown Het
Mycbp2 C A 14: 103,426,025 (GRCm39) V2367F possibly damaging Het
Nap1l3 C T X: 121,305,905 (GRCm39) G271D probably benign Het
Nars2 T A 7: 96,689,117 (GRCm39) D346E possibly damaging Het
Nek11 T A 9: 105,121,613 (GRCm39) E435D probably damaging Het
Nfam1 C T 15: 82,894,611 (GRCm39) G205R probably benign Het
Or10aa1 T C 1: 173,869,774 (GRCm39) L86P probably damaging Het
Or1e35 A T 11: 73,797,522 (GRCm39) N265K probably benign Het
Or5b118 T A 19: 13,448,631 (GRCm39) M99K probably damaging Het
Otud3 G A 4: 138,636,928 (GRCm39) R78W probably damaging Het
Oxct2a C T 4: 123,216,758 (GRCm39) A208T probably damaging Het
Pcdh11x A T X: 119,310,607 (GRCm39) E683D probably benign Het
Phtf2 C A 5: 21,008,250 (GRCm39) V144L probably damaging Het
Pkn2 T C 3: 142,509,311 (GRCm39) probably null Het
Ralgapa2 A G 2: 146,302,632 (GRCm39) probably null Het
Rapgef6 A C 11: 54,548,255 (GRCm39) Q813P probably damaging Het
Rsf1 A T 7: 97,328,211 (GRCm39) D1071V possibly damaging Het
Sctr T C 1: 119,959,289 (GRCm39) probably benign Het
Serpini1 A G 3: 75,526,481 (GRCm39) I244M probably benign Het
Tada2a C A 11: 83,978,018 (GRCm39) probably benign Het
Tada3 A T 6: 113,352,092 (GRCm39) H112Q possibly damaging Het
Tnxb T A 17: 34,907,694 (GRCm39) L1246Q probably damaging Het
Txndc16 T C 14: 45,389,353 (GRCm39) N449S probably damaging Het
Usp34 T A 11: 23,370,090 (GRCm39) Y1771* probably null Het
Vav2 A T 2: 27,161,912 (GRCm39) probably null Het
Virma T C 4: 11,542,207 (GRCm39) probably benign Het
Vmn1r78 T A 7: 11,886,725 (GRCm39) I112N probably damaging Het
Vnn3 A T 10: 23,727,698 (GRCm39) probably benign 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
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
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
Posted On 2016-08-02