Incidental Mutation 'R0356:Prpf40b'
ID 65392
Institutional Source Beutler Lab
Gene Symbol Prpf40b
Ensembl Gene ENSMUSG00000023007
Gene Name pre-mRNA processing factor 40B
Synonyms 2610317D23Rik
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # R0356 (G1)
Quality Score 105
Status Validated
Chromosome 15
Chromosomal Location 99192968-99214899 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 99203080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000023745] [ENSMUST00000118287] [ENSMUST00000128352] [ENSMUST00000128352] [ENSMUST00000136980] [ENSMUST00000136980] [ENSMUST00000145482] [ENSMUST00000140806]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023745
SMART Domains Protein: ENSMUSP00000023745
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
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: ENSMUST00000023745
SMART Domains Protein: ENSMUSP00000023745
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
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
SMART Domains Protein: ENSMUSP00000113282
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
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 null
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: 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 noncoding transcript
Transcript: ENSMUST00000130575
Predicted Effect probably null
Transcript: ENSMUST00000136980
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007

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 null
Transcript: ENSMUST00000136980
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007

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 noncoding transcript
Transcript: ENSMUST00000138036
Predicted Effect probably null
Transcript: ENSMUST00000145482
SMART Domains Protein: ENSMUSP00000115869
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
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139330
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tgm5 T A 2: 120,884,055 (GRCm39) T313S probably damaging Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign 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
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
R7025:Prpf40b UTSW 15 99,204,281 (GRCm39) nonsense probably null
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'- AGGACTGTTAGTCGGCAGAGATCC -3'
(R):5'- TGTTCCAGCCACAGCAGCTAGAAG -3'

Sequencing Primer
(F):5'- GATCCCTGGGAACAGGACAC -3'
(R):5'- AGAAGCCTACTAAGCCCTTGTTC -3'
Posted On 2013-08-08