Incidental Mutation 'IGL02187:Prpf6'
ID283709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf6
Ensembl Gene ENSMUSG00000002455
Gene Namepre-mRNA splicing factor 6
SynonymsANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02187
Quality Score
Status
Chromosome2
Chromosomal Location181591868-181655660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 181616016 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 94 (Y94H)
Ref Sequence ENSEMBL: ENSMUSP00000121340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000132714] [ENSMUST00000136481]
Predicted Effect probably damaging
Transcript: ENSMUST00000002529
AA Change: Y94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: Y94H

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 2.5e-52 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000132714
AA Change: Y35H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455
AA Change: Y35H

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136481
AA Change: Y94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: Y94H

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 1.3e-62 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139955
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 113,713,194 E922D possibly damaging Het
Asxl3 T A 18: 22,524,978 M2015K probably damaging Het
C8a C A 4: 104,862,736 R15L probably damaging Het
Catsperg2 A G 7: 29,721,366 V47A probably benign Het
Ccdc84 C T 9: 44,410,787 probably benign Het
Cdhr2 C T 13: 54,733,710 T1081I possibly damaging Het
Cep85 T A 4: 134,131,305 M752L possibly damaging Het
Cxcr3 T A X: 101,732,877 S60C probably damaging Het
Cyp24a1 T A 2: 170,494,093 N208I probably damaging Het
Cyp2c38 A G 19: 39,436,205 I223T probably benign Het
Dennd6a A G 14: 26,606,926 I35V probably benign Het
Emb T G 13: 117,268,971 probably benign Het
Fbxo3 T C 2: 104,027,950 Y30H probably damaging Het
Fnbp1l G A 3: 122,568,800 R120* probably null Het
Galnt2 T C 8: 124,305,506 probably benign Het
Gckr T C 5: 31,307,424 probably benign Het
Gpr101 A G X: 57,501,481 F103S probably damaging Het
Gprasp1 T A X: 135,799,163 V35E probably damaging Het
Ift80 C A 3: 68,985,456 W133L probably damaging Het
Impdh1 C A 6: 29,207,087 probably benign Het
Ino80 T C 2: 119,445,457 probably benign Het
Kansl1 A T 11: 104,378,831 probably null Het
Klhl20 C T 1: 161,109,710 V32I probably benign Het
Lrfn3 A G 7: 30,355,964 S519P probably damaging Het
Mrpl51 A G 6: 125,193,331 N100S probably benign Het
Mybpc3 T C 2: 91,135,452 I1203T probably benign Het
Nbr1 A G 11: 101,569,359 I394V possibly damaging Het
Nfasc G A 1: 132,570,481 T1155M probably damaging Het
Olfr854 T A 9: 19,567,097 T96S probably benign Het
Pan3 T C 5: 147,526,588 I440T probably benign Het
Patz1 T C 11: 3,291,134 L174P probably damaging Het
Paxx A G 2: 25,460,656 L62P probably damaging Het
Plekhh1 T C 12: 79,072,818 S972P probably damaging Het
Ppp1r13b G T 12: 111,835,038 T404K probably damaging Het
Prkaa2 T C 4: 105,047,166 N238S probably benign Het
Rtn4 T C 11: 29,708,291 I815T possibly damaging Het
Slc44a5 A G 3: 154,262,917 T582A probably benign Het
Slitrk3 A G 3: 73,050,272 L389S probably damaging Het
Srp54b T A 12: 55,252,775 M297K probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zmym4 T A 4: 126,870,273 I1325L probably damaging Het
Zswim2 C A 2: 83,923,638 R226L probably damaging Het
Other mutations in Prpf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Prpf6 APN 2 181631511 missense probably benign
IGL01729:Prpf6 APN 2 181654917 missense probably damaging 1.00
IGL02077:Prpf6 APN 2 181640664 missense probably damaging 1.00
IGL02452:Prpf6 APN 2 181649085 missense probably benign 0.00
IGL02881:Prpf6 APN 2 181632071 missense probably benign 0.21
IGL03220:Prpf6 APN 2 181632879 missense probably damaging 1.00
IGL02837:Prpf6 UTSW 2 181622263 missense probably damaging 1.00
R0069:Prpf6 UTSW 2 181615963 splice site probably null
R0189:Prpf6 UTSW 2 181655457 missense probably benign 0.00
R0479:Prpf6 UTSW 2 181651127 missense probably benign 0.18
R0532:Prpf6 UTSW 2 181622211 missense possibly damaging 0.71
R0628:Prpf6 UTSW 2 181636048 missense probably damaging 0.96
R0674:Prpf6 UTSW 2 181631974 missense probably benign 0.05
R1863:Prpf6 UTSW 2 181608174 missense possibly damaging 0.81
R1954:Prpf6 UTSW 2 181632077 missense probably benign
R1955:Prpf6 UTSW 2 181632077 missense probably benign
R4612:Prpf6 UTSW 2 181632079 missense possibly damaging 0.81
R4627:Prpf6 UTSW 2 181601474 missense probably damaging 0.96
R5033:Prpf6 UTSW 2 181650106 missense possibly damaging 0.69
R5053:Prpf6 UTSW 2 181649453 missense probably benign 0.00
R5121:Prpf6 UTSW 2 181636043 missense probably benign
R5181:Prpf6 UTSW 2 181649546 missense probably damaging 0.98
R5380:Prpf6 UTSW 2 181608266 missense probably damaging 1.00
R5490:Prpf6 UTSW 2 181608165 missense probably benign 0.01
R5638:Prpf6 UTSW 2 181645588 missense probably benign 0.32
R5680:Prpf6 UTSW 2 181649140 missense probably damaging 0.99
R6152:Prpf6 UTSW 2 181621787 missense probably damaging 1.00
R6252:Prpf6 UTSW 2 181647363 missense probably damaging 1.00
R6317:Prpf6 UTSW 2 181631436 missense probably benign 0.06
R6501:Prpf6 UTSW 2 181621920 nonsense probably null
R6789:Prpf6 UTSW 2 181616051 nonsense probably null
R7023:Prpf6 UTSW 2 181620640 missense probably damaging 1.00
R7043:Prpf6 UTSW 2 181649504 missense probably benign
R7214:Prpf6 UTSW 2 181640596 missense probably damaging 1.00
Posted On2015-04-16