Incidental Mutation 'IGL02192:Cpsf3'
ID 283938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf3
Ensembl Gene ENSMUSG00000054309
Gene Name cleavage and polyadenylation specificity factor 3
Synonyms 73 kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL02192
Quality Score
Status
Chromosome 12
Chromosomal Location 21336274-21365057 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 21360197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000222968]
AlphaFold Q9QXK7
Predicted Effect probably null
Transcript: ENSMUST00000067284
SMART Domains Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309

DomainStartEndE-ValueType
Lactamase_B 24 234 8.27e-12 SMART
Beta-Casp 246 367 7.32e-45 SMART
Pfam:RMMBL 380 422 9.9e-17 PFAM
CPSF73-100_C 477 683 6.78e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220940
Predicted Effect probably benign
Transcript: ENSMUST00000221042
Predicted Effect probably benign
Transcript: ENSMUST00000222968
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,825 (GRCm39) M545K possibly damaging Het
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Anxa13 A T 15: 58,220,628 (GRCm39) noncoding transcript Het
Ap2b1 C T 11: 83,237,592 (GRCm39) T552I possibly damaging Het
Cars1 T C 7: 143,125,325 (GRCm39) S388G probably damaging Het
Cdh18 A T 15: 23,460,402 (GRCm39) D544V probably damaging Het
Chat T C 14: 32,145,279 (GRCm39) R377G possibly damaging Het
Col14a1 A G 15: 55,225,798 (GRCm39) T154A unknown Het
Col9a1 C T 1: 24,261,068 (GRCm39) P311S probably damaging Het
Dock8 T C 19: 25,055,569 (GRCm39) probably null Het
Eml6 A G 11: 29,755,743 (GRCm39) I837T probably benign Het
Epb41 T C 4: 131,657,028 (GRCm39) T792A probably damaging Het
Exph5 A T 9: 53,287,625 (GRCm39) R1569* probably null Het
F13b A T 1: 139,445,071 (GRCm39) T574S probably damaging Het
Fam184b G T 5: 45,695,062 (GRCm39) D727E probably benign Het
Fhip1a A G 3: 85,580,633 (GRCm39) L524P possibly damaging Het
Fhod3 T C 18: 25,189,415 (GRCm39) L619P probably damaging Het
Fsd1l A G 4: 53,647,754 (GRCm39) I66V probably benign Het
Fv1 A G 4: 147,954,712 (GRCm39) D426G possibly damaging Het
Gm3371 A T 14: 44,641,235 (GRCm39) probably benign Het
Hnf1a A T 5: 115,098,177 (GRCm39) S142T probably damaging Het
Itgb3 A G 11: 104,534,765 (GRCm39) I541V probably benign Het
Itgbl1 G T 14: 124,081,338 (GRCm39) C239F probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Larp1b G T 3: 40,921,929 (GRCm39) S116I probably benign Het
Lmtk3 A G 7: 45,443,933 (GRCm39) probably benign Het
Mapk10 T C 5: 103,137,513 (GRCm39) I235V probably damaging Het
Mctp1 C T 13: 76,879,887 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,285 (GRCm39) D1819N probably damaging Het
Muc6 T C 7: 141,217,717 (GRCm39) T2254A possibly damaging Het
Nbr1 T A 11: 101,460,417 (GRCm39) S444T probably damaging Het
Ncor2 A T 5: 125,101,301 (GRCm39) D1956E probably damaging Het
Ndufaf5 T C 2: 140,030,663 (GRCm39) V183A probably benign Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Npy5r T A 8: 67,133,998 (GRCm39) H265L probably benign Het
Or10j2 T A 1: 173,098,417 (GRCm39) L225H probably damaging Het
Or8k16 G A 2: 85,520,472 (GRCm39) G233D possibly damaging Het
Pop1 A G 15: 34,529,217 (GRCm39) E749G probably benign Het
Ppil3 T C 1: 58,477,547 (GRCm39) I66V probably damaging Het
Prl4a1 C A 13: 28,202,554 (GRCm39) T43K possibly damaging Het
Prop1 A G 11: 50,844,113 (GRCm39) probably benign Het
Qrsl1 A T 10: 43,761,010 (GRCm39) I218N probably damaging Het
Rbm22 T A 18: 60,697,484 (GRCm39) M63K possibly damaging Het
Rictor T C 15: 6,815,895 (GRCm39) S1056P probably benign Het
Rps6kb2 T C 19: 4,207,587 (GRCm39) T388A probably damaging Het
Slc7a5 A G 8: 122,613,129 (GRCm39) probably benign Het
Sp100 A T 1: 85,635,722 (GRCm39) D509V probably damaging Het
Spata18 G T 5: 73,829,861 (GRCm39) probably null Het
Sspo C A 6: 48,436,502 (GRCm39) T1254K possibly damaging Het
Stk19 A G 17: 35,051,134 (GRCm39) probably benign Het
Taar8b T A 10: 23,967,262 (GRCm39) I311F probably damaging Het
Themis2 C A 4: 132,510,658 (GRCm39) probably null Het
Tll2 T C 19: 41,074,702 (GRCm39) Y937C possibly damaging Het
Trim34a T A 7: 103,896,939 (GRCm39) M1K probably null Het
Usp50 G A 2: 126,619,958 (GRCm39) T118I possibly damaging Het
Vps13d G A 4: 144,875,428 (GRCm39) S1693F probably benign Het
Vps16 T A 2: 130,282,852 (GRCm39) I467N probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Cpsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Cpsf3 APN 12 21,351,457 (GRCm39) missense probably damaging 1.00
IGL02192:Cpsf3 APN 12 21,360,194 (GRCm39) unclassified probably benign
IGL02651:Cpsf3 APN 12 21,343,298 (GRCm39) missense probably damaging 1.00
IGL02963:Cpsf3 APN 12 21,352,423 (GRCm39) missense probably damaging 0.99
IGL03072:Cpsf3 APN 12 21,345,089 (GRCm39) missense possibly damaging 0.83
IGL03307:Cpsf3 APN 12 21,346,715 (GRCm39) missense possibly damaging 0.87
IGL03335:Cpsf3 APN 12 21,356,888 (GRCm39) splice site probably null
R0419:Cpsf3 UTSW 12 21,347,800 (GRCm39) missense probably damaging 1.00
R0441:Cpsf3 UTSW 12 21,350,085 (GRCm39) missense probably damaging 1.00
R1669:Cpsf3 UTSW 12 21,355,332 (GRCm39) missense probably damaging 1.00
R1797:Cpsf3 UTSW 12 21,356,851 (GRCm39) missense probably benign 0.01
R1801:Cpsf3 UTSW 12 21,363,791 (GRCm39) missense probably benign 0.01
R1860:Cpsf3 UTSW 12 21,346,733 (GRCm39) missense probably damaging 1.00
R3782:Cpsf3 UTSW 12 21,350,067 (GRCm39) missense possibly damaging 0.83
R3953:Cpsf3 UTSW 12 21,363,806 (GRCm39) missense probably benign
R3954:Cpsf3 UTSW 12 21,363,806 (GRCm39) missense probably benign
R3955:Cpsf3 UTSW 12 21,363,806 (GRCm39) missense probably benign
R3957:Cpsf3 UTSW 12 21,363,806 (GRCm39) missense probably benign
R4922:Cpsf3 UTSW 12 21,351,538 (GRCm39) missense probably damaging 1.00
R5112:Cpsf3 UTSW 12 21,341,785 (GRCm39) missense probably benign
R5363:Cpsf3 UTSW 12 21,358,986 (GRCm39) missense probably benign 0.00
R5507:Cpsf3 UTSW 12 21,347,929 (GRCm39) missense probably damaging 1.00
R6090:Cpsf3 UTSW 12 21,345,194 (GRCm39) missense probably damaging 0.99
R6144:Cpsf3 UTSW 12 21,356,887 (GRCm39) splice site probably null
R6238:Cpsf3 UTSW 12 21,350,163 (GRCm39) missense probably damaging 1.00
R7229:Cpsf3 UTSW 12 21,346,738 (GRCm39) critical splice donor site probably null
R7974:Cpsf3 UTSW 12 21,358,006 (GRCm39) missense probably damaging 1.00
R8175:Cpsf3 UTSW 12 21,350,178 (GRCm39) missense probably benign 0.07
R8914:Cpsf3 UTSW 12 21,345,112 (GRCm39) missense probably damaging 1.00
R9087:Cpsf3 UTSW 12 21,358,995 (GRCm39) missense probably damaging 1.00
R9149:Cpsf3 UTSW 12 21,356,844 (GRCm39) missense possibly damaging 0.64
R9301:Cpsf3 UTSW 12 21,350,112 (GRCm39) missense possibly damaging 0.93
R9378:Cpsf3 UTSW 12 21,358,039 (GRCm39) missense possibly damaging 0.95
R9476:Cpsf3 UTSW 12 21,350,080 (GRCm39) missense probably damaging 1.00
X0060:Cpsf3 UTSW 12 21,352,393 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16