Incidental Mutation 'IGL03018:Cpsf6'
ID407956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf6
Ensembl Gene ENSMUSG00000055531
Gene Namecleavage and polyadenylation specific factor 6
SynonymsHPBRII-4, CFIM68, 4733401N12Rik, HPBRII-7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL03018
Quality Score
Status
Chromosome10
Chromosomal Location117344673-117380015 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117367956 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 30 (D30E)
Ref Sequence ENSEMBL: ENSMUSP00000135848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069168] [ENSMUST00000175924] [ENSMUST00000176670] [ENSMUST00000176686] [ENSMUST00000177145]
Predicted Effect unknown
Transcript: ENSMUST00000069168
AA Change: D31E
SMART Domains Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: D31E

DomainStartEndE-ValueType
RRM 82 157 8.79e-11 SMART
low complexity region 182 365 N/A INTRINSIC
low complexity region 376 400 N/A INTRINSIC
low complexity region 422 438 N/A INTRINSIC
low complexity region 489 551 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000175924
AA Change: D30E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531
AA Change: D30E

DomainStartEndE-ValueType
PDB:3Q2T|D 19 91 3e-48 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176567
Predicted Effect unknown
Transcript: ENSMUST00000176670
AA Change: D31E
SMART Domains Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: D31E

DomainStartEndE-ValueType
RRM 82 157 8.79e-11 SMART
low complexity region 182 232 N/A INTRINSIC
low complexity region 273 402 N/A INTRINSIC
low complexity region 413 437 N/A INTRINSIC
low complexity region 459 475 N/A INTRINSIC
low complexity region 526 588 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000176686
AA Change: D31E
SMART Domains Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: D31E

DomainStartEndE-ValueType
RRM 82 157 8.79e-11 SMART
low complexity region 182 365 N/A INTRINSIC
low complexity region 376 400 N/A INTRINSIC
low complexity region 422 438 N/A INTRINSIC
low complexity region 489 552 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000177145
AA Change: D31E
SMART Domains Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: D31E

DomainStartEndE-ValueType
RRM 82 157 8.79e-11 SMART
low complexity region 182 365 N/A INTRINSIC
low complexity region 376 400 N/A INTRINSIC
low complexity region 422 438 N/A INTRINSIC
low complexity region 489 551 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.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,702,451 V474E probably damaging Het
Casc1 A G 6: 145,183,305 F394S probably damaging Het
Edem1 T C 6: 108,829,142 F135L probably damaging Het
Elf3 C T 1: 135,256,065 E239K possibly damaging Het
Farp1 C T 14: 121,102,169 A53V probably benign Het
Gli3 T A 13: 15,660,132 L400Q probably damaging Het
Gm7257 A G 9: 36,433,427 T84A possibly damaging Het
Gtf2i T A 5: 134,289,335 I109F possibly damaging Het
Lat2 A T 5: 134,602,591 I191N probably damaging Het
Mtf1 G A 4: 124,838,663 A505T probably benign Het
Naa30 G T 14: 49,173,240 E208D probably benign Het
Nlrp5 T C 7: 23,417,747 Y299H probably benign Het
Npc1 T A 18: 12,214,379 N195Y probably damaging Het
Olfr1101 T G 2: 86,989,005 Y57S probably damaging Het
Olfr1182 T C 2: 88,446,819 N40D probably damaging Het
Olfr453 A G 6: 42,744,814 Y259C probably damaging Het
Olfr830 T C 9: 18,876,227 M300T probably benign Het
Olfr832 A T 9: 18,944,881 I78F probably damaging Het
Pcdh9 G A 14: 93,015,576 A1217V probably null Het
Pdhb C T 14: 8,171,537 probably benign Het
Pknox2 A G 9: 36,954,697 Y75H probably damaging Het
Ptprn2 T C 12: 117,211,943 S748P probably damaging Het
Ranbp6 A G 19: 29,811,389 V521A probably damaging Het
Samd7 A G 3: 30,762,145 K347E probably damaging Het
Selenom A G 11: 3,516,508 D63G probably damaging Het
Sema6d T C 2: 124,659,600 V487A possibly damaging Het
Tapt1 A T 5: 44,204,324 M109K probably damaging Het
Trib1 T C 15: 59,654,484 F301S probably damaging Het
Tspyl1 T C 10: 34,283,116 V279A probably damaging Het
Ubr2 C T 17: 46,954,046 V1184I possibly damaging Het
Urb1 T C 16: 90,788,156 I526V probably benign Het
Vtcn1 A G 3: 100,883,910 D88G probably damaging Het
Yod1 T G 1: 130,718,958 L191V probably benign Het
Other mutations in Cpsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Cpsf6 APN 10 117366129 unclassified probably benign
IGL03392:Cpsf6 APN 10 117367979 missense probably damaging 1.00
R1006:Cpsf6 UTSW 10 117366068 splice site probably benign
R1239:Cpsf6 UTSW 10 117361343 unclassified probably benign
R1611:Cpsf6 UTSW 10 117361828 intron probably benign
R2041:Cpsf6 UTSW 10 117359128 missense probably damaging 0.99
R2117:Cpsf6 UTSW 10 117366120 unclassified probably benign
R2225:Cpsf6 UTSW 10 117363036 unclassified probably benign
R4752:Cpsf6 UTSW 10 117361368 splice site probably benign
R5001:Cpsf6 UTSW 10 117367961 missense possibly damaging 0.71
R5176:Cpsf6 UTSW 10 117361284 unclassified probably benign
R5393:Cpsf6 UTSW 10 117362016 unclassified probably benign
R5696:Cpsf6 UTSW 10 117361029 unclassified probably benign
R7216:Cpsf6 UTSW 10 117362023 missense unknown
R7226:Cpsf6 UTSW 10 117361822 missense unknown
R7522:Cpsf6 UTSW 10 117367829 missense unknown
Z1088:Cpsf6 UTSW 10 117356041 missense unknown
Posted On2016-08-02