Incidental Mutation 'IGL03392:Cpsf6'
ID421093
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: 0.946) question?
Stock #IGL03392
Quality Score
Status
Chromosome10
Chromosomal Location117344673-117380015 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117367979 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 23 (Y23N)
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: Y24N
SMART Domains Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: Y24N

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 damaging
Transcript: ENSMUST00000175924
AA Change: Y23N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531
AA Change: Y23N

DomainStartEndE-ValueType
PDB:3Q2T|D 19 91 3e-48 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176567
Predicted Effect unknown
Transcript: ENSMUST00000176670
AA Change: Y24N
SMART Domains Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: Y24N

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: Y24N
SMART Domains Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: Y24N

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: Y24N
SMART Domains Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: Y24N

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,562,011 D692E probably damaging Het
Adgrb3 T A 1: 25,504,448 R366S probably damaging Het
Afg3l2 C A 18: 67,414,069 probably benign Het
Cd5 T C 19: 10,726,289 probably benign Het
Cnbd1 A G 4: 18,862,111 S360P probably damaging Het
Col13a1 A T 10: 61,885,711 L305I possibly damaging Het
Commd7 A T 2: 153,622,764 probably benign Het
Cry1 A G 10: 85,157,129 V75A possibly damaging Het
Cyp2c39 A G 19: 39,513,323 N107D probably benign Het
Dcaf11 T A 14: 55,561,421 V45E probably damaging Het
Dnm2 A G 9: 21,474,611 E310G probably damaging Het
Fat3 T A 9: 16,003,862 I1597L probably benign Het
Fcamr A G 1: 130,800,948 probably benign Het
Fer A G 17: 63,991,642 I529V probably damaging Het
Fhdc1 T C 3: 84,444,519 K1133R possibly damaging Het
Foxd3 A G 4: 99,657,195 K191E probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gbp8 A G 5: 105,016,544 probably null Het
Glb1 T G 9: 114,430,321 N106K probably damaging Het
Hpx A G 7: 105,592,402 I295T probably damaging Het
Ipo5 T A 14: 120,942,687 D844E probably damaging Het
Krt17 T C 11: 100,259,735 I159V possibly damaging Het
Lgi4 G A 7: 31,063,180 probably null Het
Lrrc49 T C 9: 60,666,280 probably benign Het
Ltn1 T C 16: 87,425,611 K178R probably damaging Het
Myh8 T A 11: 67,294,418 W832R probably damaging Het
Nbn A G 4: 15,962,362 N30S probably damaging Het
Olfr1245 A T 2: 89,575,249 V159D probably damaging Het
Olfr1312 T A 2: 112,042,976 N19Y probably benign Het
Olfr137 A G 17: 38,304,895 S189P probably benign Het
Olfr632 T C 7: 103,938,025 V215A probably benign Het
Pcdh15 A T 10: 74,624,272 I1314F probably damaging Het
Phf14 G A 6: 11,962,659 S435N probably damaging Het
Prss45 T A 9: 110,840,550 Y231* probably null Het
Pus7l T C 15: 94,536,568 D339G probably damaging Het
Sbk2 A G 7: 4,957,409 F254S probably damaging Het
Serpina1b T G 12: 103,732,070 K173N possibly damaging Het
Slc13a5 G A 11: 72,245,178 T469I probably damaging Het
Spon1 A G 7: 114,034,287 E655G probably damaging Het
Sv2b T C 7: 75,156,760 probably null Het
Treh A G 9: 44,685,931 D514G probably damaging Het
Umodl1 T A 17: 30,996,355 L1051Q probably damaging Het
Usp5 A G 6: 124,826,387 F4S probably damaging Het
Vmn1r16 A G 6: 57,322,894 S248P probably damaging Het
Other mutations in Cpsf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Cpsf6 APN 10 117366129 unclassified probably benign
IGL03018:Cpsf6 APN 10 117367956 missense probably benign 0.02
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