Incidental Mutation 'R5284:Prpf18'
ID 402914
Institutional Source Beutler Lab
Gene Symbol Prpf18
Ensembl Gene ENSMUSG00000039449
Gene Name pre-mRNA processing factor 18
Synonyms 2810441A10Rik
MMRRC Submission 042841-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5284 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 4626869-4656924 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 4650481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 50 (Q50*)
Ref Sequence ENSEMBL: ENSMUSP00000116495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035721] [ENSMUST00000152362] [ENSMUST00000192470]
AlphaFold Q8BM39
Predicted Effect probably null
Transcript: ENSMUST00000035721
AA Change: Q50*
SMART Domains Protein: ENSMUSP00000041428
Gene: ENSMUSG00000039449
AA Change: Q50*

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 188 332 5e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144650
Predicted Effect probably null
Transcript: ENSMUST00000152362
AA Change: Q50*
SMART Domains Protein: ENSMUSP00000116495
Gene: ENSMUSG00000039449
AA Change: Q50*

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 189 331 3.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153881
Predicted Effect probably benign
Transcript: ENSMUST00000192470
SMART Domains Protein: ENSMUSP00000141457
Gene: ENSMUSG00000039449

DomainStartEndE-ValueType
SFM 3 53 1.7e-26 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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 found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T A 7: 45,630,483 (GRCm39) Q1259L probably benign Het
Arhgef26 T C 3: 62,327,052 (GRCm39) S522P probably damaging Het
Asic5 C T 3: 81,915,830 (GRCm39) P218L probably damaging Het
Atad1 T C 19: 32,664,671 (GRCm39) M248V probably benign Het
Bank1 T C 3: 135,769,915 (GRCm39) D522G probably damaging Het
Bod1l G A 5: 41,977,810 (GRCm39) S1168L probably benign Het
Cactin A G 10: 81,159,596 (GRCm39) D51G probably damaging Het
Camkk1 A G 11: 72,928,381 (GRCm39) D261G probably benign Het
Cep152 A G 2: 125,421,941 (GRCm39) S930P probably damaging Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Crim1 A T 17: 78,620,695 (GRCm39) R378S possibly damaging Het
Dcun1d4 T C 5: 73,680,025 (GRCm39) probably null Het
Dhdds A G 4: 133,707,523 (GRCm39) V187A probably benign Het
Ecpas C T 4: 58,836,172 (GRCm39) E723K possibly damaging Het
Egfem1 A G 3: 29,704,936 (GRCm39) E251G possibly damaging Het
Ehhadh T C 16: 21,582,094 (GRCm39) probably null Het
Ep400 A G 5: 110,815,990 (GRCm39) V2724A probably damaging Het
Epb41l4a T A 18: 33,931,853 (GRCm39) T581S probably damaging Het
Erg C T 16: 95,260,102 (GRCm39) M1I probably null Het
Fastkd1 T C 2: 69,542,532 (GRCm39) T92A probably benign Het
Gabpb1 T C 2: 126,494,277 (GRCm39) H116R possibly damaging Het
Gucy2c A G 6: 136,740,041 (GRCm39) L262P possibly damaging Het
Ifi203 C T 1: 173,756,274 (GRCm39) probably benign Het
Kcnk13 A C 12: 100,027,548 (GRCm39) I208L probably benign Het
Klhl7 A G 5: 24,364,615 (GRCm39) T550A probably benign Het
Krtap12-1 G T 10: 77,556,799 (GRCm39) C114F possibly damaging Het
Myh7b A G 2: 155,474,234 (GRCm39) T1650A probably benign Het
Myo19 T A 11: 84,776,098 (GRCm39) probably null Het
Nav1 C T 1: 135,377,701 (GRCm39) W1656* probably null Het
Nup188 A T 2: 30,220,647 (GRCm39) S907C probably damaging Het
Oplah A T 15: 76,190,759 (GRCm39) H125Q probably benign Het
Or6d12 T A 6: 116,493,513 (GRCm39) Y258* probably null Het
Pcnx1 A T 12: 81,965,803 (GRCm39) T657S probably benign Het
Phf14 C A 6: 11,997,119 (GRCm39) Q796K probably damaging Het
Plaa T C 4: 94,457,874 (GRCm39) I699V probably benign Het
Prex2 C A 1: 11,336,314 (GRCm39) S1504* probably null Het
Rnf213 A G 11: 119,349,692 (GRCm39) Y3851C possibly damaging Het
Rpgrip1 A G 14: 52,386,733 (GRCm39) D726G probably damaging Het
Sacm1l T C 9: 123,415,485 (GRCm39) S487P probably damaging Het
Setdb1 G T 3: 95,234,881 (GRCm39) R941S probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Smg8 G A 11: 86,971,137 (GRCm39) S878L possibly damaging Het
Trpc4 T A 3: 54,187,368 (GRCm39) V440E probably damaging Het
Tsen15 A G 1: 152,247,624 (GRCm39) S123P probably damaging Het
Tspan12 G T 6: 21,835,466 (GRCm39) A69D probably damaging Het
Ubiad1 G A 4: 148,520,955 (GRCm39) T223M probably damaging Het
Ubtfl1 A T 9: 18,320,741 (GRCm39) K90* probably null Het
Wdr19 C T 5: 65,382,752 (GRCm39) T492I probably damaging Het
Zfp423 C T 8: 88,508,305 (GRCm39) D659N possibly damaging Het
Other mutations in Prpf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0437:Prpf18 UTSW 2 4,648,572 (GRCm39) missense possibly damaging 0.94
R3735:Prpf18 UTSW 2 4,648,484 (GRCm39) missense probably benign 0.13
R4918:Prpf18 UTSW 2 4,641,981 (GRCm39) missense probably benign 0.01
R4929:Prpf18 UTSW 2 4,629,348 (GRCm39) splice site probably null
R5122:Prpf18 UTSW 2 4,648,520 (GRCm39) missense probably damaging 0.97
R5478:Prpf18 UTSW 2 4,643,705 (GRCm39) missense probably benign 0.01
R6272:Prpf18 UTSW 2 4,638,258 (GRCm39) missense probably damaging 1.00
R7217:Prpf18 UTSW 2 4,650,435 (GRCm39) missense probably benign 0.01
R9046:Prpf18 UTSW 2 4,640,464 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GCGTTACACGTGCATTTTCC -3'
(R):5'- ATGCTCTCCACGTGTCATGC -3'

Sequencing Primer
(F):5'- TGTGCTGGGAATCCAACTC -3'
(R):5'- CACGTGTCATGCTCCTGAGTG -3'
Posted On 2016-07-22