Incidental Mutation 'R4922:Cpsf3'
ID378707
Institutional Source Beutler Lab
Gene Symbol Cpsf3
Ensembl Gene ENSMUSG00000054309
Gene Namecleavage and polyadenylation specificity factor 3
Synonyms73 kDa
MMRRC Submission 042524-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.955) question?
Stock #R4922 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location21285391-21315056 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21301537 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 353 (I353T)
Ref Sequence ENSEMBL: ENSMUSP00000068148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067284] [ENSMUST00000221145] [ENSMUST00000222968]
Predicted Effect probably damaging
Transcript: ENSMUST00000067284
AA Change: I353T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: I353T

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 probably benign
Transcript: ENSMUST00000221042
Predicted Effect probably benign
Transcript: ENSMUST00000221145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222883
Predicted Effect probably damaging
Transcript: ENSMUST00000222968
AA Change: I353T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.27 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 97% (76/78)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900011O08Rik A G 16: 13,986,819 H10R possibly damaging Het
4932438A13Rik T A 3: 36,987,165 I2564K probably damaging Het
5830473C10Rik A G 5: 90,579,711 H396R possibly damaging Het
Adgrb2 G T 4: 130,007,852 C423F probably damaging Het
Akap11 A T 14: 78,512,780 Y722* probably null Het
Anxa3 A T 5: 96,820,429 I114F probably damaging Het
Arfgef3 T A 10: 18,592,186 R1755S probably damaging Het
Atf7ip A T 6: 136,560,041 T91S possibly damaging Het
B020004J07Rik T A 4: 101,835,532 M424L probably benign Het
Bcl2 C A 1: 106,712,646 A79S probably benign Het
Bmp10 C T 6: 87,433,575 P117S probably benign Het
Bmpr2 A G 1: 59,867,424 T559A probably benign Het
Cd200r1 A T 16: 44,789,676 Y86F probably damaging Het
Cemip T A 7: 83,947,100 probably benign Het
Cfap52 A G 11: 67,931,722 probably null Het
Chml T C 1: 175,687,146 H60R possibly damaging Het
Cic TCCCCC TCCCCCCCC 7: 25,291,670 probably benign Het
Clec12a A G 6: 129,359,478 Y201C probably damaging Het
Col15a1 T C 4: 47,258,719 V370A probably benign Het
Csf2rb T A 15: 78,346,467 V470E probably benign Het
Cyp4a10 C A 4: 115,521,094 Q126K probably benign Het
Dennd1b T C 1: 139,085,914 S249P probably damaging Het
Dnase2a A G 8: 84,908,996 probably null Het
Dpp10 T C 1: 123,378,153 N490S probably benign Het
Enc1 C T 13: 97,245,735 A251V probably benign Het
Fancd2 T C 6: 113,585,473 V1258A probably benign Het
Fancm G A 12: 65,106,892 probably null Het
Fbxo16 C T 14: 65,299,208 T177I probably benign Het
Gm10471 A T 5: 26,084,793 I212N probably damaging Het
Gm1965 T C 6: 89,146,543 noncoding transcript Het
Gm6768 A G 12: 119,262,517 noncoding transcript Het
Hal A T 10: 93,503,539 M497L probably damaging Het
Hectd4 T C 5: 121,359,315 L3936S possibly damaging Het
Hs3st4 G T 7: 124,397,187 G359W probably damaging Het
Il6st C T 13: 112,502,865 P608L probably damaging Het
Kctd18 A C 1: 57,965,548 probably benign Het
Kntc1 T A 5: 123,802,246 S1636T probably damaging Het
Lrrn1 A T 6: 107,568,350 S370C probably damaging Het
Mtcl1 A C 17: 66,348,479 C968G probably benign Het
Mylip G A 13: 45,408,762 A347T probably damaging Het
Naip2 T C 13: 100,154,960 S1157G probably benign Het
Neu4 T A 1: 94,022,478 V53E probably damaging Het
Nxpe3 T C 16: 55,860,324 I302V probably benign Het
Olfr1229 A T 2: 89,282,467 L243Q possibly damaging Het
Olfr266 A T 3: 106,822,260 C100S probably damaging Het
Otos T C 1: 92,644,368 T79A probably damaging Het
Pde4a T C 9: 21,210,713 I578T probably damaging Het
Prex2 C T 1: 11,169,940 P927S probably damaging Het
Prrxl1 A T 14: 32,608,406 N160I probably damaging Het
Prune2 A T 19: 17,122,752 K1873N probably benign Het
Ptk7 C A 17: 46,576,491 probably null Het
Reln T A 5: 21,995,587 probably null Het
Rgl2 A G 17: 33,932,775 probably benign Het
Rnf145 T A 11: 44,557,236 probably benign Het
Ryr2 T C 13: 11,709,963 E2488G probably damaging Het
Sgo2b A T 8: 63,926,630 M1056K possibly damaging Het
Snapc4 A G 2: 26,369,233 V635A probably benign Het
Snx19 T A 9: 30,437,467 Y101N probably benign Het
Sorl1 C A 9: 42,014,450 probably null Het
Sp110 C G 1: 85,589,118 E219D probably damaging Het
Tmem30b G A 12: 73,545,714 P209L probably damaging Het
Trbv12-2 G T 6: 41,119,147 C52F probably damaging Het
Tsc2 T A 17: 24,600,369 D1304V probably benign Het
Ugt2b36 T C 5: 87,066,324 Y487C probably damaging Het
Vmn1r10 T A 6: 57,113,826 N134K probably damaging Het
Wdr27 C A 17: 14,920,754 probably null Het
Wdr66 T C 5: 123,256,053 V335A probably benign Het
Wdr75 T C 1: 45,816,478 F430L probably damaging Het
Zfp629 A G 7: 127,612,127 I170T probably damaging Het
Other mutations in Cpsf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02039:Cpsf3 APN 12 21301456 missense probably damaging 1.00
IGL02192:Cpsf3 APN 12 21310193 unclassified probably benign
IGL02192:Cpsf3 APN 12 21310196 critical splice acceptor site probably null
IGL02651:Cpsf3 APN 12 21293297 missense probably damaging 1.00
IGL02963:Cpsf3 APN 12 21302422 missense probably damaging 0.99
IGL03072:Cpsf3 APN 12 21295088 missense possibly damaging 0.83
IGL03307:Cpsf3 APN 12 21296714 missense possibly damaging 0.87
IGL03335:Cpsf3 APN 12 21306887 splice site probably null
R0419:Cpsf3 UTSW 12 21297799 missense probably damaging 1.00
R0441:Cpsf3 UTSW 12 21300084 missense probably damaging 1.00
R1669:Cpsf3 UTSW 12 21305331 missense probably damaging 1.00
R1797:Cpsf3 UTSW 12 21306850 missense probably benign 0.01
R1801:Cpsf3 UTSW 12 21313790 missense probably benign 0.01
R1860:Cpsf3 UTSW 12 21296732 missense probably damaging 1.00
R3782:Cpsf3 UTSW 12 21300066 missense possibly damaging 0.83
R3953:Cpsf3 UTSW 12 21313805 missense probably benign
R3954:Cpsf3 UTSW 12 21313805 missense probably benign
R3955:Cpsf3 UTSW 12 21313805 missense probably benign
R3957:Cpsf3 UTSW 12 21313805 missense probably benign
R5112:Cpsf3 UTSW 12 21291784 missense probably benign
R5363:Cpsf3 UTSW 12 21308985 missense probably benign 0.00
R5507:Cpsf3 UTSW 12 21297928 missense probably damaging 1.00
R6090:Cpsf3 UTSW 12 21295193 missense probably damaging 0.99
R6144:Cpsf3 UTSW 12 21306886 splice site probably null
R6238:Cpsf3 UTSW 12 21300162 missense probably damaging 1.00
X0060:Cpsf3 UTSW 12 21302392 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CATGCAGAAGTGTGATTACTTTACG -3'
(R):5'- CGCCCCTCATCTGAGAAATCTAG -3'

Sequencing Primer
(F):5'- ACTTTACGAGGAGACTGTTTGACCAG -3'
(R):5'- GTAATTTTGAGCAAAAATGTCTGGGG -3'
Posted On2016-04-15