Incidental Mutation 'IGL02440:Prpf40b'
ID293433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf40b
Ensembl Gene ENSMUSG00000023007
Gene Namepre-mRNA processing factor 40B
Synonyms2610317D23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.180) question?
Stock #IGL02440
Quality Score
Status
Chromosome15
Chromosomal Location99295087-99317018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99306866 bp
ZygosityHeterozygous
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] [ENSMUST00000140806] [ENSMUST00000145482]
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 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
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: ENSMUST00000150641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153692
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: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Itln1 C T 1: 171,531,529 A128T probably benign Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Prpf40b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Prpf40b APN 15 99316131 missense probably benign 0.04
IGL00821:Prpf40b APN 15 99316501 missense probably benign 0.04
IGL00949:Prpf40b APN 15 99306538 missense probably benign 0.00
IGL01621:Prpf40b APN 15 99310045 unclassified probably benign
IGL01816:Prpf40b APN 15 99315218 missense probably damaging 1.00
IGL01878:Prpf40b APN 15 99306532 missense possibly damaging 0.84
IGL01886:Prpf40b APN 15 99304447 missense unknown
IGL02025:Prpf40b APN 15 99314588 missense probably damaging 1.00
R0101:Prpf40b UTSW 15 99306800 splice site probably benign
R0284:Prpf40b UTSW 15 99316393 splice site probably benign
R0356:Prpf40b UTSW 15 99305199 splice site probably null
R0602:Prpf40b UTSW 15 99304471 missense unknown
R0632:Prpf40b UTSW 15 99316289 missense probably benign 0.04
R1220:Prpf40b UTSW 15 99316348 missense probably benign 0.10
R1660:Prpf40b UTSW 15 99305561 missense probably damaging 1.00
R2224:Prpf40b UTSW 15 99303291 start gained probably benign
R2245:Prpf40b UTSW 15 99305166 intron probably benign
R2342:Prpf40b UTSW 15 99306168 missense probably damaging 0.98
R4019:Prpf40b UTSW 15 99316476 missense probably benign 0.10
R4449:Prpf40b UTSW 15 99314663 missense probably damaging 1.00
R4622:Prpf40b UTSW 15 99316316 missense probably benign 0.01
R4869:Prpf40b UTSW 15 99309845 intron probably benign
R5960:Prpf40b UTSW 15 99314904 missense probably damaging 1.00
R6734:Prpf40b UTSW 15 99314903 missense probably damaging 1.00
R6735:Prpf40b UTSW 15 99314903 missense probably damaging 1.00
R6776:Prpf40b UTSW 15 99314903 missense probably damaging 1.00
R6783:Prpf40b UTSW 15 99314903 missense probably damaging 1.00
R7025:Prpf40b UTSW 15 99306400 nonsense probably null
R7544:Prpf40b UTSW 15 99306018 missense probably benign 0.01
R7733:Prpf40b UTSW 15 99308343 critical splice donor site probably null
R8133:Prpf40b UTSW 15 99304438 missense unknown
R8193:Prpf40b UTSW 15 99304068 missense unknown
R8248:Prpf40b UTSW 15 99316285 missense unknown
X0019:Prpf40b UTSW 15 99307703 missense probably damaging 1.00
Posted On2015-04-16