Incidental Mutation 'IGL01729:Prpf6'
ID105408
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 #IGL01729
Quality Score
Status
Chromosome2
Chromosomal Location181591868-181655660 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 181654917 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 876 (D876E)
Ref Sequence ENSEMBL: ENSMUSP00000121340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000136481] [ENSMUST00000207856]
Predicted Effect probably damaging
Transcript: ENSMUST00000002529
AA Change: D876E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: D876E

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: ENSMUST00000136481
AA Change: D876E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: D876E

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 probably benign
Transcript: ENSMUST00000207856
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A G 15: 83,228,325 F86L probably damaging Het
Acer3 A G 7: 98,216,865 V217A probably benign Het
Adcy10 T C 1: 165,513,168 probably null Het
Adcy8 C T 15: 64,806,662 V481I probably damaging Het
Ano3 C T 2: 110,781,394 probably null Het
Arhgap23 C T 11: 97,453,961 T583I probably damaging Het
Atp2a1 A G 7: 126,457,934 L173P probably damaging Het
Clgn T C 8: 83,397,650 W74R probably damaging Het
Clstn3 T C 6: 124,449,794 S523G probably benign Het
Dnah10 A C 5: 124,787,465 K2245Q probably benign Het
Dsg1b G T 18: 20,405,238 V634L possibly damaging Het
Dzip3 A T 16: 48,928,363 V864E possibly damaging Het
Ear2 A T 14: 44,103,244 R120* probably null Het
Fam171b T C 2: 83,855,537 probably benign Het
Fam186b G A 15: 99,280,251 S398L probably benign Het
Gabrp T C 11: 33,552,689 K392E probably damaging Het
Gm10355 G A 3: 101,306,683 noncoding transcript Het
Gm3424 T C 14: 5,829,323 Y90C probably damaging Het
Gm8165 A G 14: 43,672,729 V212A unknown Het
Grm7 G A 6: 111,246,184 R395Q probably benign Het
Il1r1 T A 1: 40,294,826 N185K probably damaging Het
Jam3 A G 9: 27,105,525 F80L probably damaging Het
Map1s T C 8: 70,913,068 Y206H probably damaging Het
Mettl11b T A 1: 163,725,003 D18V probably damaging Het
Mroh7 A G 4: 106,704,205 Y614H possibly damaging Het
Pate2 T C 9: 35,670,592 Y61H probably damaging Het
Prox1 T A 1: 190,161,175 T358S probably benign Het
Rpf1 G A 3: 146,507,149 R311C probably damaging Het
Rpusd2 T A 2: 119,035,356 V178D probably damaging Het
Stx2 A G 5: 128,990,978 F222L probably benign Het
Themis T A 10: 28,761,591 Y230* probably null Het
Tmem132e T C 11: 82,435,116 L314P possibly damaging Het
Tmtc3 T C 10: 100,447,155 E846G probably benign Het
Trem1 T C 17: 48,244,575 V88A possibly damaging Het
Trim21 G A 7: 102,563,893 A66V probably damaging Het
Trip4 A C 9: 65,874,892 V186G probably benign Het
Vps9d1 T C 8: 123,247,000 E348G probably damaging Het
Xrn2 T C 2: 147,036,797 probably null Het
Zfp36 A G 7: 28,378,463 S7P probably damaging Het
Other mutations in Prpf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Prpf6 APN 2 181631511 missense probably benign
IGL02077:Prpf6 APN 2 181640664 missense probably damaging 1.00
IGL02187:Prpf6 APN 2 181616016 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
R7538:Prpf6 UTSW 2 181652455 missense probably benign 0.16
Posted On2014-01-21