Incidental Mutation 'IGL02440:Prpf40b'
ID 293433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf40b
Ensembl Gene ENSMUSG00000023007
Gene Name pre-mRNA processing factor 40B
Synonyms 2610317D23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.167) question?
Stock # IGL02440
Quality Score
Status
Chromosome 15
Chromosomal Location 99192968-99214899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99204747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 263 (S263P)
Ref Sequence ENSEMBL: ENSMUSP00000122649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000118287] [ENSMUST00000128352] [ENSMUST00000136980] [ENSMUST00000145482] [ENSMUST00000140806]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023745
AA Change: S269P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
AA Change: S269P

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 possibly damaging
Transcript: ENSMUST00000118287
AA Change: S269P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
AA Change: S269P

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 noncoding transcript
Transcript: ENSMUST00000130575
Predicted Effect probably damaging
Transcript: ENSMUST00000136980
AA Change: S263P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
AA Change: S263P

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 possibly damaging
Transcript: ENSMUST00000145482
AA Change: S269P

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
AA Change: S269P

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: ENSMUST00000139330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153692
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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,824,777 (GRCm39) probably benign Het
Bmt2 C T 6: 13,628,609 (GRCm39) R358Q probably damaging Het
C2cd6 A G 1: 59,114,259 (GRCm39) I182T probably benign Het
Calr3 T C 8: 73,185,276 (GRCm39) T100A probably benign Het
Cln3 T C 7: 126,181,954 (GRCm39) K36R probably benign Het
Ddx25 C T 9: 35,468,974 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,313,899 (GRCm39) V1677E probably damaging Het
Dnah10 A G 5: 124,850,883 (GRCm39) E1684G probably damaging Het
Dnah9 A G 11: 65,846,072 (GRCm39) S2989P probably damaging Het
F5 A T 1: 164,034,635 (GRCm39) T1845S possibly damaging Het
Folh1 G T 7: 86,383,312 (GRCm39) N478K probably benign Het
Gpr22 T C 12: 31,759,139 (GRCm39) I328V probably damaging Het
Itln1 C T 1: 171,359,097 (GRCm39) A128T probably benign Het
Itprid1 A G 6: 55,861,713 (GRCm39) T97A possibly damaging Het
Kank1 A G 19: 25,410,272 (GRCm39) K1322R probably damaging Het
Klhdc2 A G 12: 69,350,414 (GRCm39) Y153C probably damaging Het
Lonp2 T A 8: 87,350,813 (GRCm39) M1K probably null Het
Mtor T A 4: 148,630,886 (GRCm39) M2281K probably benign Het
Mtor T A 4: 148,576,104 (GRCm39) N1378K probably benign Het
Myo1e G A 9: 70,254,022 (GRCm39) R557H probably damaging Het
Nedd4l T C 18: 65,296,244 (GRCm39) probably null Het
Or2r3 T C 6: 42,449,100 (GRCm39) D4G probably benign Het
Or2t46 A T 11: 58,472,035 (GRCm39) M122L probably damaging Het
Or2z9 T A 8: 72,854,374 (GRCm39) F257I probably damaging Het
Or9i16 A T 19: 13,865,223 (GRCm39) M117K probably damaging Het
Pcdh18 T C 3: 49,699,052 (GRCm39) probably benign Het
Phldb1 T C 9: 44,626,700 (GRCm39) T582A probably damaging Het
Plxna2 A T 1: 194,428,458 (GRCm39) E509D probably benign Het
Poln A T 5: 34,286,474 (GRCm39) D231E probably damaging Het
Prex2 G A 1: 11,223,881 (GRCm39) R735Q possibly damaging Het
Sfmbt2 C T 2: 10,573,194 (GRCm39) A574V probably damaging Het
Slc12a3 T C 8: 95,058,310 (GRCm39) I152T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,145,293 (GRCm39) I391V probably benign Het
Tbx4 A G 11: 85,781,720 (GRCm39) E80G probably damaging Het
Vmn2r22 A G 6: 123,614,364 (GRCm39) Y409H probably benign Het
Zfp691 T G 4: 119,027,493 (GRCm39) R246S probably damaging Het
Zfp846 T C 9: 20,499,796 (GRCm39) 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
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
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
Posted On 2015-04-16