Incidental Mutation 'R7025:Prpf40b'
ID 545929
Institutional Source Beutler Lab
Gene Symbol Prpf40b
Ensembl Gene ENSMUSG00000023007
Gene Name pre-mRNA processing factor 40B
Synonyms 2610317D23Rik
MMRRC Submission 045126-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R7025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 99192968-99214899 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 99204281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 182 (Q182*)
Ref Sequence ENSEMBL: ENSMUSP00000115869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000118287] [ENSMUST00000128352] [ENSMUST00000136980] [ENSMUST00000140806] [ENSMUST00000145482]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023745
AA Change: Q182*
SMART Domains Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: Q182*

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 693 776 N/A INTRINSIC
low complexity region 777 796 N/A INTRINSIC
low complexity region 809 825 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118287
AA Change: Q182*
SMART Domains Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: Q182*

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 694 777 N/A INTRINSIC
low complexity region 778 797 N/A INTRINSIC
low complexity region 810 826 N/A INTRINSIC
low complexity region 845 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128352
SMART Domains Protein: ENSMUSP00000119556
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000136980
AA Change: Q176*
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: Q176*

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
low complexity region 22 46 N/A INTRINSIC
low complexity region 50 81 N/A INTRINSIC
WW 87 119 7.6e-9 SMART
WW 128 160 1.75e-8 SMART
low complexity region 176 206 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
FF 270 324 2.36e-14 SMART
FF 404 464 6.94e-3 SMART
FF 484 544 1.41e0 SMART
FF 613 669 3.41e-11 SMART
low complexity region 681 764 N/A INTRINSIC
low complexity region 765 784 N/A INTRINSIC
low complexity region 797 813 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140806
SMART Domains Protein: ENSMUSP00000121260
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 73 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000145482
AA Change: Q182*
SMART Domains Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: Q182*

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 693 708 N/A INTRINSIC
low complexity region 719 780 N/A INTRINSIC
low complexity region 781 800 N/A INTRINSIC
low complexity region 813 829 N/A INTRINSIC
low complexity region 848 869 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd4 T A 11: 102,995,364 (GRCm39) L90M probably damaging Het
Acot7 T C 4: 152,262,646 (GRCm39) S7P unknown Het
Ahcyl2 T C 6: 29,908,420 (GRCm39) Y388H probably damaging Het
Atp1a2 T A 1: 172,112,117 (GRCm39) R593* probably null Het
Bicral T C 17: 47,112,594 (GRCm39) T869A probably benign Het
Brca2 C T 5: 150,463,943 (GRCm39) P1236S probably benign Het
Cacna2d1 C T 5: 16,557,666 (GRCm39) Q699* probably null Het
Ccser2 T C 14: 36,661,964 (GRCm39) N407D probably damaging Het
Cd300lg A G 11: 101,933,900 (GRCm39) Y49C probably damaging Het
Cdh12 C A 15: 21,358,900 (GRCm39) T108K probably damaging Het
Ctnnd1 A T 2: 84,440,950 (GRCm39) I715K possibly damaging Het
Cyp17a1 T A 19: 46,659,419 (GRCm39) D137V probably damaging Het
Dbr1 A G 9: 99,458,036 (GRCm39) T19A probably damaging Het
Dnah3 C T 7: 119,629,233 (GRCm39) A1441T possibly damaging Het
Dpt G A 1: 164,624,508 (GRCm39) D70N probably damaging Het
Elk4 C A 1: 131,947,107 (GRCm39) P366Q probably damaging Het
Eml4 A C 17: 83,732,740 (GRCm39) D131A probably benign Het
Faap24 A G 7: 35,092,296 (GRCm39) I207T possibly damaging Het
Fam219a T C 4: 41,521,925 (GRCm39) S41G probably benign Het
Gask1b T C 3: 79,793,855 (GRCm39) Y108H probably damaging Het
Ifi203 T C 1: 173,755,951 (GRCm39) probably benign Het
Inpp4a T C 1: 37,408,504 (GRCm39) V295A probably benign Het
Kif2a A G 13: 107,119,102 (GRCm39) Y267H probably damaging Het
Kprp T A 3: 92,732,504 (GRCm39) Q182L probably benign Het
Krt90 T C 15: 101,465,610 (GRCm39) K337R possibly damaging Het
Lrp2 T A 2: 69,313,372 (GRCm39) Y2453F possibly damaging Het
Magel2 A C 7: 62,029,535 (GRCm39) Y813S unknown Het
Myh7 C A 14: 55,212,101 (GRCm39) E1548* probably null Het
Myh8 A G 11: 67,188,365 (GRCm39) T1009A probably benign Het
Nab2 T A 10: 127,502,377 (GRCm39) probably benign Het
Neb T C 2: 52,186,285 (GRCm39) D929G possibly damaging Het
Nelfb A C 2: 25,100,505 (GRCm39) V155G probably damaging Het
Nmur1 C A 1: 86,315,570 (GRCm39) M65I possibly damaging Het
Nop56 C T 2: 130,119,801 (GRCm39) R81* probably null Het
Npnt C T 3: 132,614,157 (GRCm39) C47Y probably damaging Het
Nrp1 G T 8: 129,207,435 (GRCm39) C610F probably damaging Het
Or4a71 T A 2: 89,357,948 (GRCm39) I269F probably damaging Het
Or5d45 T C 2: 88,153,606 (GRCm39) K148E probably damaging Het
Or6c63-ps1 T A 10: 128,900,544 (GRCm39) M1L probably benign Het
Pax5 G A 4: 44,679,501 (GRCm39) Q93* probably null Het
Pcnt G T 10: 76,239,669 (GRCm39) Q1273K probably damaging Het
Pde4dip G A 3: 97,631,499 (GRCm39) Q1137* probably null Het
Pfas A T 11: 68,881,586 (GRCm39) D959E probably benign Het
Pira13 T A 7: 3,824,261 (GRCm39) K629* probably null Het
Prex1 TCCGACCCC TCCGACCCCGACCCC 2: 166,455,107 (GRCm39) probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rpe65 A C 3: 159,328,322 (GRCm39) E406A probably damaging Het
Serpina3k A T 12: 104,307,401 (GRCm39) Y211F probably benign Het
Shkbp1 T C 7: 27,054,706 (GRCm39) I65V possibly damaging Het
Slc22a29 G A 19: 8,137,944 (GRCm39) P544S probably benign Het
Stab2 T C 10: 86,686,701 (GRCm39) D2281G probably damaging Het
Tjp2 A G 19: 24,110,052 (GRCm39) M64T probably benign Het
Tnfrsf8 C T 4: 145,000,973 (GRCm39) V378I possibly damaging Het
Trpm1 A T 7: 63,876,462 (GRCm39) probably null Het
Ubqln3 A G 7: 103,790,482 (GRCm39) I536T probably benign Het
Vmn1r44 A G 6: 89,870,736 (GRCm39) T161A possibly damaging Het
Vmn2r108 T A 17: 20,691,345 (GRCm39) I393F possibly damaging Het
Other mutations in Prpf40b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Prpf40b APN 15 99,214,012 (GRCm39) missense probably benign 0.04
IGL00821:Prpf40b APN 15 99,214,382 (GRCm39) missense probably benign 0.04
IGL00949:Prpf40b APN 15 99,204,419 (GRCm39) missense probably benign 0.00
IGL01621:Prpf40b APN 15 99,207,926 (GRCm39) unclassified probably benign
IGL01816:Prpf40b APN 15 99,213,099 (GRCm39) missense probably damaging 1.00
IGL01878:Prpf40b APN 15 99,204,413 (GRCm39) missense possibly damaging 0.84
IGL01886:Prpf40b APN 15 99,202,328 (GRCm39) missense unknown
IGL02025:Prpf40b APN 15 99,212,469 (GRCm39) missense probably damaging 1.00
IGL02440:Prpf40b APN 15 99,204,747 (GRCm39) missense probably damaging 0.98
R0101:Prpf40b UTSW 15 99,204,681 (GRCm39) splice site probably benign
R0284:Prpf40b UTSW 15 99,214,274 (GRCm39) splice site probably benign
R0356:Prpf40b UTSW 15 99,203,080 (GRCm39) splice site probably null
R0602:Prpf40b UTSW 15 99,202,352 (GRCm39) missense unknown
R0632:Prpf40b UTSW 15 99,214,170 (GRCm39) missense probably benign 0.04
R1220:Prpf40b UTSW 15 99,214,229 (GRCm39) missense probably benign 0.10
R1660:Prpf40b UTSW 15 99,203,442 (GRCm39) missense probably damaging 1.00
R2224:Prpf40b UTSW 15 99,201,172 (GRCm39) start gained probably benign
R2245:Prpf40b UTSW 15 99,203,047 (GRCm39) intron probably benign
R2342:Prpf40b UTSW 15 99,204,049 (GRCm39) missense probably damaging 0.98
R4019:Prpf40b UTSW 15 99,214,357 (GRCm39) missense probably benign 0.10
R4449:Prpf40b UTSW 15 99,212,544 (GRCm39) missense probably damaging 1.00
R4622:Prpf40b UTSW 15 99,214,197 (GRCm39) missense probably benign 0.01
R4869:Prpf40b UTSW 15 99,207,726 (GRCm39) intron probably benign
R5960:Prpf40b UTSW 15 99,212,785 (GRCm39) missense probably damaging 1.00
R6734:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R6735:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R6776:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R6783:Prpf40b UTSW 15 99,212,784 (GRCm39) missense probably damaging 1.00
R7544:Prpf40b UTSW 15 99,203,899 (GRCm39) missense probably benign 0.01
R7733:Prpf40b UTSW 15 99,206,224 (GRCm39) critical splice donor site probably null
R8133:Prpf40b UTSW 15 99,202,319 (GRCm39) missense unknown
R8193:Prpf40b UTSW 15 99,201,949 (GRCm39) missense unknown
R8248:Prpf40b UTSW 15 99,214,166 (GRCm39) missense unknown
R8669:Prpf40b UTSW 15 99,201,228 (GRCm39) start codon destroyed probably null
R8670:Prpf40b UTSW 15 99,207,621 (GRCm39) missense probably damaging 0.96
R9191:Prpf40b UTSW 15 99,202,064 (GRCm39) missense probably null
X0019:Prpf40b UTSW 15 99,205,584 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTCGTCAAACAAGAGTCTGC -3'
(R):5'- TGGAAAGTTTGAGGCTGCAATG -3'

Sequencing Primer
(F):5'- CAAGAGTCTGCAGGGTAAGTTTG -3'
(R):5'- TTTGAGGCTGCAATGAAAGGG -3'
Posted On 2019-05-13