Incidental Mutation 'IGL02346:Prpf39'
ID289278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf39
Ensembl Gene ENSMUSG00000035597
Gene Namepre-mRNA processing factor 39
SynonymsSrcs1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.946) question?
Stock #IGL02346
Quality Score
Status
Chromosome12
Chromosomal Location65036333-65063386 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 65057736 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 525 (T525I)
Ref Sequence ENSEMBL: ENSMUSP00000112953 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000120580] [ENSMUST00000129956] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913] [ENSMUST00000223315]
Predicted Effect probably benign
Transcript: ENSMUST00000021332
SMART Domains Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949

DomainStartEndE-ValueType
PDB:2KFV|A 1 73 2e-45 PDB
low complexity region 91 100 N/A INTRINSIC
Pfam:FKBP_C 121 221 3.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120580
AA Change: T525I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112953
Gene: ENSMUSG00000035597
AA Change: T525I

DomainStartEndE-ValueType
HAT 107 139 3.71e-2 SMART
HAT 141 173 4.39e-4 SMART
HAT 181 216 2.07e0 SMART
HAT 218 251 1.36e2 SMART
low complexity region 277 290 N/A INTRINSIC
Blast:HAT 323 363 6e-18 BLAST
HAT 365 397 3.2e-6 SMART
HAT 398 431 3.21e1 SMART
HAT 505 537 3.63e1 SMART
low complexity region 645 664 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129956
SMART Domains Protein: ENSMUSP00000114713
Gene: ENSMUSG00000035597

DomainStartEndE-ValueType
Blast:HAT 107 139 7e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220729
Predicted Effect probably benign
Transcript: ENSMUST00000220730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220957
Predicted Effect probably benign
Transcript: ENSMUST00000220983
Predicted Effect probably benign
Transcript: ENSMUST00000221166
Predicted Effect probably benign
Transcript: ENSMUST00000221608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222154
Predicted Effect probably benign
Transcript: ENSMUST00000221913
Predicted Effect probably benign
Transcript: ENSMUST00000223315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223167
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,238,699 I1948F probably damaging Het
Adgre1 T C 17: 57,443,919 V531A probably benign Het
Ano3 A T 2: 110,770,926 probably benign Het
Api5 A T 2: 94,427,530 F125I possibly damaging Het
Arhgap21 A G 2: 20,879,951 probably benign Het
Atp13a5 T A 16: 29,327,736 K247* probably null Het
Ccdc58 T C 16: 36,091,835 V87A probably damaging Het
Col9a1 C T 1: 24,223,609 A585V probably damaging Het
Eef1akmt3 A G 10: 127,032,936 V223A probably benign Het
Eml1 T C 12: 108,537,441 S766P possibly damaging Het
Fam13b G T 18: 34,462,105 A402E probably benign Het
Gad2 A G 2: 22,629,939 probably benign Het
Gbf1 A G 19: 46,285,930 E1859G probably damaging Het
Gli3 T G 13: 15,723,693 V786G probably damaging Het
Gm5592 A G 7: 41,289,465 S724G probably damaging Het
Hgs A G 11: 120,482,551 Y634C probably damaging Het
Hoxa3 T A 6: 52,170,599 probably benign Het
Id4 C A 13: 48,261,713 Y72* probably null Het
Il5ra T A 6: 106,742,658 E71D probably benign Het
Kcnh4 G A 11: 100,756,942 T168M possibly damaging Het
Kdm3b A T 18: 34,834,238 I1699L probably damaging Het
Madd A G 2: 91,162,491 Y1048H probably damaging Het
Nr2f1 C A 13: 78,195,408 V246L probably damaging Het
Oas2 A T 5: 120,736,088 I560N probably benign Het
Olfr24 T C 9: 18,754,769 I289V probably damaging Het
Olfr27 T C 9: 39,144,643 L181P probably damaging Het
Olfr346 A T 2: 36,688,004 M1L probably benign Het
Pclo A G 5: 14,677,538 probably benign Het
Pdss2 T C 10: 43,345,643 F184L possibly damaging Het
Ralgps1 A T 2: 33,157,770 probably null Het
Rasal3 A G 17: 32,399,349 W161R probably damaging Het
Sema5b T A 16: 35,649,755 V329D probably damaging Het
Serpinb9g A T 13: 33,486,531 M1L probably benign Het
Sptb C T 12: 76,621,014 D770N probably damaging Het
Tdp2 T C 13: 24,841,352 V368A possibly damaging Het
Uggt1 A G 1: 36,179,670 S59P probably benign Het
Vmn2r9 T A 5: 108,842,984 N837I probably benign Het
Vmn2r-ps130 T C 17: 23,061,527 V54A possibly damaging Het
Wdr7 A T 18: 63,865,336 E1118V probably benign Het
Wwox A G 8: 114,712,118 H308R probably benign Het
Zbtb41 C A 1: 139,447,100 P766Q probably damaging Het
Other mutations in Prpf39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00834:Prpf39 APN 12 65043263 missense probably damaging 0.99
IGL01025:Prpf39 APN 12 65042481 unclassified probably benign
IGL01323:Prpf39 APN 12 65042724 missense possibly damaging 0.70
IGL02966:Prpf39 APN 12 65042779 missense probably benign 0.45
IGL03189:Prpf39 APN 12 65043302 nonsense probably null
IGL03357:Prpf39 APN 12 65061437 unclassified probably benign
R0103:Prpf39 UTSW 12 65055283 missense possibly damaging 0.56
R0103:Prpf39 UTSW 12 65055283 missense possibly damaging 0.56
R0328:Prpf39 UTSW 12 65043371 splice site probably benign
R0549:Prpf39 UTSW 12 65056256 missense probably benign 0.05
R0840:Prpf39 UTSW 12 65048206 missense probably benign 0.21
R1248:Prpf39 UTSW 12 65053966 splice site probably benign
R1322:Prpf39 UTSW 12 65042662 missense possibly damaging 0.48
R1481:Prpf39 UTSW 12 65053314 missense probably damaging 1.00
R2209:Prpf39 UTSW 12 65057915 critical splice donor site probably null
R2232:Prpf39 UTSW 12 65044012 nonsense probably null
R2507:Prpf39 UTSW 12 65057815 missense probably benign 0.36
R2508:Prpf39 UTSW 12 65057815 missense probably benign 0.36
R2959:Prpf39 UTSW 12 65042523 missense probably damaging 1.00
R3117:Prpf39 UTSW 12 65057877 missense possibly damaging 0.79
R3118:Prpf39 UTSW 12 65057877 missense possibly damaging 0.79
R3980:Prpf39 UTSW 12 65061457 unclassified probably benign
R4407:Prpf39 UTSW 12 65056266 missense probably damaging 1.00
R4620:Prpf39 UTSW 12 65042563 missense probably benign
R4926:Prpf39 UTSW 12 65044056 missense possibly damaging 0.90
R5154:Prpf39 UTSW 12 65048277 missense probably benign 0.29
R6248:Prpf39 UTSW 12 65042754 missense probably damaging 1.00
R6334:Prpf39 UTSW 12 65042813 splice site probably null
R6614:Prpf39 UTSW 12 65042563 missense probably benign
R6749:Prpf39 UTSW 12 65056274 missense possibly damaging 0.94
R6944:Prpf39 UTSW 12 65042680 missense probably benign 0.03
R7023:Prpf39 UTSW 12 65053300 missense possibly damaging 0.94
R7503:Prpf39 UTSW 12 65053393 missense probably benign 0.04
R7532:Prpf39 UTSW 12 65053371 missense probably benign 0.00
R7608:Prpf39 UTSW 12 65053446 missense probably benign 0.41
R8286:Prpf39 UTSW 12 65056358 missense probably benign
R8439:Prpf39 UTSW 12 65055262 missense possibly damaging 0.95
R8787:Prpf39 UTSW 12 65042781 missense possibly damaging 0.95
Posted On2015-04-16