Incidental Mutation 'IGL01886:Prpf8'
ID 179134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf8
Ensembl Gene ENSMUSG00000020850
Gene Name pre-mRNA processing factor 8
Synonyms Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL01886
Quality Score
Status
Chromosome 11
Chromosomal Location 75486816-75509449 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75495744 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 1075 (Q1075K)
Ref Sequence ENSEMBL: ENSMUSP00000099568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect probably benign
Transcript: ENSMUST00000018449
AA Change: Q1075K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: Q1075K

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-84 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 393 801 3.6e-226 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1079 7.1e-49 PFAM
Pfam:U5_2-snRNA_bdg 1208 1343 1.9e-73 PFAM
Pfam:U6-snRNA_bdg 1442 1601 3.7e-97 PFAM
Pfam:PRP8_domainIV 1760 1990 1.5e-132 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102510
AA Change: Q1075K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: Q1075K

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-90 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 395 801 2.9e-239 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1077 1.5e-51 PFAM
Pfam:U5_2-snRNA_bdg 1210 1343 1.1e-77 PFAM
Pfam:U6-snRNA_bdg 1442 1600 4.2e-97 PFAM
Pfam:PRP8_domainIV 1760 1989 9.8e-134 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131283
AA Change: Q1020K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: Q1020K

DomainStartEndE-ValueType
Pfam:PRO8NT 58 92 1.9e-13 PFAM
Pfam:PRO8NT 90 154 2.5e-30 PFAM
low complexity region 314 333 N/A INTRINSIC
Pfam:PROCN 338 746 1.7e-226 PFAM
low complexity region 747 759 N/A INTRINSIC
Pfam:RRM_4 931 1024 5.3e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133995
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 (GRCm38) V136M probably benign Het
Ankrd34c A T 9: 89,730,265 (GRCm38) L8M possibly damaging Het
Anks6 C A 4: 47,044,850 (GRCm38) W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 (GRCm38) N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 (GRCm38) probably benign Het
Clec7a A T 6: 129,463,177 (GRCm38) probably benign Het
Cyp3a13 G A 5: 137,898,820 (GRCm38) P411S probably damaging Het
Elavl2 A G 4: 91,264,093 (GRCm38) V129A probably damaging Het
Ercc6 T A 14: 32,569,580 (GRCm38) S994T possibly damaging Het
Esco1 T A 18: 10,595,262 (GRCm38) K8I probably damaging Het
Esr1 T A 10: 4,856,861 (GRCm38) I259K probably damaging Het
Filip1l A G 16: 57,571,250 (GRCm38) I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm38) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm38) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Grin3a T A 4: 49,702,814 (GRCm38) I891F probably damaging Het
Kat7 T C 11: 95,306,133 (GRCm38) T27A probably benign Het
Kdm1a A G 4: 136,561,016 (GRCm38) probably null Het
Kifc5b T C 17: 26,932,117 (GRCm38) V663A probably damaging Het
Lama1 T G 17: 67,807,797 (GRCm38) S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 (GRCm38) V279I probably benign Het
Mast3 A T 8: 70,782,139 (GRCm38) L774Q possibly damaging Het
Med27 C A 2: 29,413,482 (GRCm38) P9Q probably damaging Het
Myo5a C A 9: 75,169,090 (GRCm38) probably benign Het
Myoz1 T C 14: 20,655,309 (GRCm38) K14E probably damaging Het
Neb T C 2: 52,183,845 (GRCm38) probably benign Het
Nlrp1a T C 11: 71,123,501 (GRCm38) T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 (GRCm38) Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 (GRCm38) C124F probably damaging Het
Orc1 T A 4: 108,603,957 (GRCm38) probably null Het
Pnkp G A 7: 44,862,207 (GRCm38) A76T probably damaging Het
Polr3h T C 15: 81,917,390 (GRCm38) E95G probably damaging Het
Prpf40b T A 15: 99,304,447 (GRCm38) M62K unknown Het
Ptprg A G 14: 12,179,280 (GRCm38) K766E probably benign Het
Rabgap1l A T 1: 160,342,042 (GRCm38) N778K probably damaging Het
Riok3 T A 18: 12,139,385 (GRCm38) N204K probably damaging Het
Shank3 A G 15: 89,531,663 (GRCm38) K650E probably damaging Het
Sim1 T A 10: 50,984,315 (GRCm38) S758T probably damaging Het
Slu7 T G 11: 43,439,260 (GRCm38) N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 (GRCm38) probably null Het
Taf6l C T 19: 8,778,086 (GRCm38) probably null Het
Ubtfl1 G A 9: 18,409,721 (GRCm38) V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 (GRCm38) noncoding transcript Het
Other mutations in Prpf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01376:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01393:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01395:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01554:Prpf8 APN 11 75,495,646 (GRCm38) missense probably damaging 1.00
IGL01560:Prpf8 APN 11 75,490,406 (GRCm38) missense possibly damaging 0.55
IGL01946:Prpf8 APN 11 75,499,992 (GRCm38) missense probably damaging 1.00
IGL02022:Prpf8 APN 11 75,501,834 (GRCm38) nonsense probably null
IGL02077:Prpf8 APN 11 75,495,809 (GRCm38) missense probably damaging 0.96
IGL02141:Prpf8 APN 11 75,490,672 (GRCm38) missense possibly damaging 0.68
IGL02455:Prpf8 APN 11 75,509,258 (GRCm38) missense probably benign 0.32
cutter UTSW 11 75,495,426 (GRCm38) splice site probably null
BB009:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
BB019:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
PIT4514001:Prpf8 UTSW 11 75,496,355 (GRCm38) missense possibly damaging 0.53
R0254:Prpf8 UTSW 11 75,506,362 (GRCm38) missense possibly damaging 0.93
R0270:Prpf8 UTSW 11 75,505,249 (GRCm38) missense probably damaging 0.99
R0504:Prpf8 UTSW 11 75,501,942 (GRCm38) splice site probably benign
R0573:Prpf8 UTSW 11 75,490,654 (GRCm38) missense probably damaging 1.00
R0613:Prpf8 UTSW 11 75,503,444 (GRCm38) missense probably damaging 1.00
R0893:Prpf8 UTSW 11 75,493,949 (GRCm38) missense probably damaging 1.00
R0967:Prpf8 UTSW 11 75,494,430 (GRCm38) missense probably damaging 1.00
R0975:Prpf8 UTSW 11 75,508,674 (GRCm38) unclassified probably benign
R1123:Prpf8 UTSW 11 75,495,285 (GRCm38) missense probably damaging 1.00
R1183:Prpf8 UTSW 11 75,490,330 (GRCm38) missense possibly damaging 0.95
R1857:Prpf8 UTSW 11 75,495,423 (GRCm38) critical splice donor site probably null
R1901:Prpf8 UTSW 11 75,504,744 (GRCm38) missense probably damaging 0.99
R1950:Prpf8 UTSW 11 75,496,511 (GRCm38) missense possibly damaging 0.72
R2116:Prpf8 UTSW 11 75,487,721 (GRCm38) missense possibly damaging 0.51
R2147:Prpf8 UTSW 11 75,490,531 (GRCm38) missense probably benign
R2185:Prpf8 UTSW 11 75,487,113 (GRCm38) nonsense probably null
R2271:Prpf8 UTSW 11 75,495,363 (GRCm38) missense probably damaging 1.00
R2272:Prpf8 UTSW 11 75,495,363 (GRCm38) missense probably damaging 1.00
R2898:Prpf8 UTSW 11 75,496,034 (GRCm38) missense probably benign 0.00
R3744:Prpf8 UTSW 11 75,506,721 (GRCm38) splice site probably null
R3893:Prpf8 UTSW 11 75,500,257 (GRCm38) missense possibly damaging 0.73
R4400:Prpf8 UTSW 11 75,490,702 (GRCm38) missense possibly damaging 0.63
R4510:Prpf8 UTSW 11 75,491,826 (GRCm38) missense probably damaging 0.96
R4511:Prpf8 UTSW 11 75,491,826 (GRCm38) missense probably damaging 0.96
R4784:Prpf8 UTSW 11 75,492,505 (GRCm38) missense probably damaging 1.00
R5089:Prpf8 UTSW 11 75,509,228 (GRCm38) splice site probably null
R5186:Prpf8 UTSW 11 75,489,783 (GRCm38) missense possibly damaging 0.93
R5215:Prpf8 UTSW 11 75,500,204 (GRCm38) missense probably benign 0.02
R5288:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5362:Prpf8 UTSW 11 75,506,410 (GRCm38) missense possibly damaging 0.53
R5384:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5386:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5423:Prpf8 UTSW 11 75,508,958 (GRCm38) missense probably damaging 1.00
R5472:Prpf8 UTSW 11 75,503,643 (GRCm38) missense possibly damaging 0.89
R5539:Prpf8 UTSW 11 75,503,638 (GRCm38) missense probably benign 0.20
R5620:Prpf8 UTSW 11 75,505,101 (GRCm38) missense possibly damaging 0.95
R5669:Prpf8 UTSW 11 75,504,738 (GRCm38) missense probably damaging 1.00
R5887:Prpf8 UTSW 11 75,500,908 (GRCm38) missense possibly damaging 0.87
R5948:Prpf8 UTSW 11 75,509,189 (GRCm38) missense possibly damaging 0.95
R6073:Prpf8 UTSW 11 75,494,022 (GRCm38) critical splice donor site probably null
R6250:Prpf8 UTSW 11 75,493,508 (GRCm38) missense possibly damaging 0.95
R6358:Prpf8 UTSW 11 75,491,495 (GRCm38) missense probably benign 0.33
R6629:Prpf8 UTSW 11 75,495,426 (GRCm38) splice site probably null
R6804:Prpf8 UTSW 11 75,499,809 (GRCm38) missense possibly damaging 0.71
R6922:Prpf8 UTSW 11 75,490,736 (GRCm38) missense probably damaging 1.00
R7035:Prpf8 UTSW 11 75,504,828 (GRCm38) missense possibly damaging 0.72
R7038:Prpf8 UTSW 11 75,496,158 (GRCm38) missense probably benign 0.02
R7089:Prpf8 UTSW 11 75,508,548 (GRCm38) missense probably damaging 0.99
R7101:Prpf8 UTSW 11 75,490,400 (GRCm38) missense possibly damaging 0.85
R7114:Prpf8 UTSW 11 75,503,355 (GRCm38) nonsense probably null
R7182:Prpf8 UTSW 11 75,490,727 (GRCm38) missense possibly damaging 0.96
R7290:Prpf8 UTSW 11 75,493,957 (GRCm38) missense possibly damaging 0.85
R7323:Prpf8 UTSW 11 75,491,784 (GRCm38) missense probably benign 0.32
R7485:Prpf8 UTSW 11 75,508,912 (GRCm38) nonsense probably null
R7522:Prpf8 UTSW 11 75,509,276 (GRCm38) missense possibly damaging 0.82
R7546:Prpf8 UTSW 11 75,508,374 (GRCm38) missense probably damaging 1.00
R7596:Prpf8 UTSW 11 75,491,504 (GRCm38) missense probably benign 0.03
R7699:Prpf8 UTSW 11 75,500,196 (GRCm38) missense probably benign 0.02
R7731:Prpf8 UTSW 11 75,508,906 (GRCm38) missense probably damaging 0.97
R7821:Prpf8 UTSW 11 75,494,474 (GRCm38) missense probably benign 0.01
R7932:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
R8039:Prpf8 UTSW 11 75,502,542 (GRCm38) missense possibly damaging 0.95
R8067:Prpf8 UTSW 11 75,500,150 (GRCm38) missense probably damaging 0.98
R8316:Prpf8 UTSW 11 75,499,815 (GRCm38) missense possibly damaging 0.71
R8560:Prpf8 UTSW 11 75,491,774 (GRCm38) nonsense probably null
R8823:Prpf8 UTSW 11 75,493,456 (GRCm38) missense probably benign 0.05
R8977:Prpf8 UTSW 11 75,496,044 (GRCm38) missense probably benign 0.12
R9116:Prpf8 UTSW 11 75,489,763 (GRCm38) missense possibly damaging 0.71
R9166:Prpf8 UTSW 11 75,496,514 (GRCm38) missense possibly damaging 0.53
R9360:Prpf8 UTSW 11 75,490,330 (GRCm38) missense possibly damaging 0.95
R9453:Prpf8 UTSW 11 75,506,386 (GRCm38) missense possibly damaging 0.56
R9518:Prpf8 UTSW 11 75,503,660 (GRCm38) missense possibly damaging 0.72
R9532:Prpf8 UTSW 11 75,494,782 (GRCm38) missense probably benign 0.01
R9626:Prpf8 UTSW 11 75,494,855 (GRCm38) missense possibly damaging 0.53
R9760:Prpf8 UTSW 11 75,503,431 (GRCm38) missense probably benign 0.20
X0028:Prpf8 UTSW 11 75,506,764 (GRCm38) missense probably damaging 0.99
Z1177:Prpf8 UTSW 11 75,503,334 (GRCm38) missense probably benign 0.35
Posted On 2014-05-07