Incidental Mutation 'R8278:Prpf4'
ID 638057
Institutional Source Beutler Lab
Gene Symbol Prpf4
Ensembl Gene ENSMUSG00000066148
Gene Name pre-mRNA processing factor 4
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.945) question?
Stock # R8278 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 62408797-62426990 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 62415256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084524]
AlphaFold Q9DAW6
Predicted Effect probably null
Transcript: ENSMUST00000084524
SMART Domains Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SFM 102 154 8.92e-25 SMART
WD40 219 258 1.14e-3 SMART
WD40 261 308 1.75e-4 SMART
WD40 311 350 5.18e-7 SMART
WD40 353 392 8.04e-4 SMART
WD40 395 434 2.57e-11 SMART
WD40 437 477 2.93e-6 SMART
WD40 480 519 1.74e-8 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610301B20Rik T A 4: 10,882,474 probably null Het
4930562C15Rik A T 16: 4,850,176 Q477L probably benign Het
Adcy10 A T 1: 165,503,288 D40V probably damaging Het
Cab39l T C 14: 59,539,113 Y248H probably damaging Het
Casr G T 16: 36,515,649 D99E probably damaging Het
Cdh16 T C 8: 104,618,475 E364G probably benign Het
Cep104 C T 4: 153,983,665 T189I possibly damaging Het
Chd7 T A 4: 8,862,485 probably null Het
Chit1 G A 1: 134,150,594 R380Q probably benign Het
Cpne2 A G 8: 94,554,688 K174R probably damaging Het
Dchs2 T A 3: 83,271,003 I1121N probably damaging Het
Fgf6 A T 6: 127,015,818 Y78F probably damaging Het
H2-T10 A T 17: 36,118,940 N320K probably benign Het
Heatr3 A T 8: 88,156,733 N398I possibly damaging Het
Hrh4 T C 18: 13,007,227 S60P probably damaging Het
Ikbip A G 10: 91,096,328 H278R probably benign Het
Jmy A T 13: 93,464,716 I394N probably damaging Het
Klhl8 T C 5: 103,874,241 E314G probably benign Het
Lhx9 A T 1: 138,838,586 C164S probably damaging Het
Loxl3 G T 6: 83,048,716 G352C probably damaging Het
Lrrk1 A G 7: 66,278,684 F1232S probably benign Het
Mpnd A G 17: 56,012,469 T311A probably benign Het
Mpp7 A T 18: 7,444,025 D132E probably benign Het
Nck2 T C 1: 43,554,580 S316P probably damaging Het
Nckap5 T C 1: 126,027,772 S348G probably damaging Het
Nyap1 C T 5: 137,731,815 R790H probably damaging Het
Olfr1489 C T 19: 13,633,594 T161I possibly damaging Het
Park2 A T 17: 12,050,722 N421Y probably benign Het
Pdcd11 G A 19: 47,106,297 V507I probably damaging Het
Pdzd2 T C 15: 12,375,909 H1380R probably benign Het
Pgap1 C T 1: 54,490,271 V763I probably benign Het
Pnmal2 G T 7: 16,946,338 V416L probably damaging Het
Psmb5 C T 14: 54,617,885 G36D probably benign Het
Ptprq A G 10: 107,686,378 S571P possibly damaging Het
Rap1gap A C 4: 137,717,437 S254R probably damaging Het
Rufy2 A T 10: 63,007,693 D492V probably benign Het
Ryr2 C A 13: 11,595,506 E4145* probably null Het
Sgsm1 A G 5: 113,260,092 F898L probably damaging Het
Slc26a9 C A 1: 131,761,776 A487D possibly damaging Het
Slc6a15 T C 10: 103,394,029 probably null Het
Smad9 A T 3: 54,789,266 T251S probably benign Het
Socs3 A T 11: 117,967,652 C193* probably null Het
Sox6 T A 7: 115,476,964 D813V probably damaging Het
Taf2 A T 15: 55,065,965 L65* probably null Het
Taf6 G A 5: 138,179,835 A468V probably benign Het
Tmem71 T C 15: 66,555,112 D78G probably damaging Het
Tob2 T C 15: 81,851,087 N227S probably benign Het
Trim34a C A 7: 104,249,416 Q180K probably damaging Het
Ugt1a9 T C 1: 88,071,656 L276P possibly damaging Het
Wdr33 G A 18: 31,827,352 R23Q possibly damaging Het
Wnt7b T G 15: 85,543,686 N189H Het
Zfp609 G A 9: 65,697,522 A1308V possibly damaging Het
Other mutations in Prpf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Prpf4 APN 4 62415396 splice site probably benign
IGL03158:Prpf4 APN 4 62416019 missense probably benign
R0389:Prpf4 UTSW 4 62422605 missense probably damaging 1.00
R0718:Prpf4 UTSW 4 62414540 splice site probably benign
R2183:Prpf4 UTSW 4 62411809 missense probably damaging 0.98
R5566:Prpf4 UTSW 4 62415969 missense probably benign 0.36
R6456:Prpf4 UTSW 4 62414632 critical splice donor site probably null
R6629:Prpf4 UTSW 4 62417860 missense possibly damaging 0.91
R7491:Prpf4 UTSW 4 62417876 missense probably damaging 1.00
R8199:Prpf4 UTSW 4 62422629 missense probably damaging 1.00
R8855:Prpf4 UTSW 4 62415998 missense probably benign 0.01
R9374:Prpf4 UTSW 4 62417894 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACGAGTGCCTGCTTTGTTC -3'
(R):5'- CTGGTTGTCTCAGGAATCTCC -3'

Sequencing Primer
(F):5'- GTTCTGTTACTGCACCAGACAC -3'
(R):5'- TCCTTATGGAGACGGGCCTC -3'
Posted On 2020-07-28