Incidental Mutation 'R4030:Cpsf1'
ID 313199
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4030 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76485979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 397 (T397M)
Ref Sequence ENSEMBL: ENSMUSP00000155308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000071898
AA Change: T397M

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: T397M

DomainStartEndE-ValueType
Pfam:MMS1_N 92 684 7.2e-42 PFAM
low complexity region 902 910 N/A INTRINSIC
Pfam:CPSF_A 1071 1407 4.9e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229447
Predicted Effect possibly damaging
Transcript: ENSMUST00000230157
AA Change: T397M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
2700062C07Rik C T 18: 24,608,715 (GRCm39) P145L probably benign Het
Akap3 A T 6: 126,841,984 (GRCm39) D201V probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Bpifb2 T C 2: 153,733,237 (GRCm39) S400P probably benign Het
Brd7 A T 8: 89,059,559 (GRCm39) I617N probably damaging Het
Cdhr2 C A 13: 54,865,674 (GRCm39) P224Q probably damaging Het
Cdon A G 9: 35,403,202 (GRCm39) N1104S probably damaging Het
Ceacam3 T C 7: 16,892,267 (GRCm39) Y337H probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Crhr2 T C 6: 55,094,662 (GRCm39) D32G probably benign Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dpyd A G 3: 118,690,815 (GRCm39) D308G probably benign Het
Dsp A G 13: 38,375,404 (GRCm39) N1063S possibly damaging Het
E030030I06Rik C A 10: 22,024,899 (GRCm39) G5C unknown Het
Ehbp1 T C 11: 22,235,498 (GRCm39) T32A probably damaging Het
Fbxo9 C A 9: 78,005,623 (GRCm39) probably null Het
Gpatch3 G A 4: 133,305,458 (GRCm39) R231H possibly damaging Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
H2-Q6 C A 17: 35,644,792 (GRCm39) Q194K probably benign Het
Hmgb1 A G 5: 148,987,510 (GRCm39) M13T probably benign Het
Kdm5a T A 6: 120,382,074 (GRCm39) L706* probably null Het
Krt12 A T 11: 99,312,854 (GRCm39) F63L unknown Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Lgr4 T C 2: 109,820,096 (GRCm39) S102P probably benign Het
Loxl4 A T 19: 42,596,798 (GRCm39) V71E probably damaging Het
Lrrc36 A C 8: 106,153,439 (GRCm39) N83T probably damaging Het
Med26 G A 8: 73,250,413 (GRCm39) R229C probably damaging Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mroh8 T A 2: 157,055,640 (GRCm39) D986V probably damaging Het
Mrpl49 T C 19: 6,105,230 (GRCm39) D77G probably benign Het
Mrps30 T C 13: 118,517,077 (GRCm39) N381D probably damaging Het
Mrtfa G A 15: 80,899,985 (GRCm39) T729I probably benign Het
Omd T A 13: 49,743,125 (GRCm39) N58K probably benign Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4a75 C A 2: 89,448,207 (GRCm39) V110F probably damaging Het
Plpp5 T A 8: 26,210,631 (GRCm39) L74Q probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Prex2 T A 1: 11,278,792 (GRCm39) Y1374N probably benign Het
Rbak A T 5: 143,159,724 (GRCm39) I443K probably damaging Het
Rhpn1 A T 15: 75,582,406 (GRCm39) S195C probably damaging Het
Rnf115 T A 3: 96,693,299 (GRCm39) I210N probably damaging Het
Rock2 G A 12: 17,025,480 (GRCm39) V1234I probably damaging Het
Scube2 A G 7: 109,430,978 (GRCm39) V407A probably benign Het
Serpina3n G T 12: 104,377,660 (GRCm39) probably null Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slco2b1 A G 7: 99,332,032 (GRCm39) L283P probably damaging Het
Spag1 G A 15: 36,234,447 (GRCm39) V736M probably damaging Het
Srebf2 T A 15: 82,062,984 (GRCm39) C434S probably damaging Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Trhr2 T C 8: 123,087,438 (GRCm39) M1V probably null Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn2r105 T C 17: 20,429,016 (GRCm39) R687G probably damaging Het
Vmn2r73 T C 7: 85,521,044 (GRCm39) Y308C possibly damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zfyve9 A G 4: 108,576,898 (GRCm39) V61A possibly damaging Het
Other mutations in Cpsf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Cpsf1 APN 15 76,484,416 (GRCm39) missense probably benign 0.27
IGL01013:Cpsf1 APN 15 76,483,497 (GRCm39) nonsense probably null
IGL01599:Cpsf1 APN 15 76,480,741 (GRCm39) missense probably damaging 1.00
IGL02008:Cpsf1 APN 15 76,487,291 (GRCm39) missense probably damaging 1.00
IGL02291:Cpsf1 APN 15 76,487,021 (GRCm39) missense probably damaging 1.00
IGL02901:Cpsf1 APN 15 76,483,696 (GRCm39) nonsense probably null
IGL02929:Cpsf1 APN 15 76,486,327 (GRCm39) critical splice donor site probably null
IGL03402:Cpsf1 APN 15 76,480,203 (GRCm39) splice site probably null
R0005:Cpsf1 UTSW 15 76,484,880 (GRCm39) critical splice donor site probably null
R0044:Cpsf1 UTSW 15 76,483,753 (GRCm39) missense probably benign
R0044:Cpsf1 UTSW 15 76,483,753 (GRCm39) missense probably benign
R0487:Cpsf1 UTSW 15 76,481,202 (GRCm39) missense probably damaging 1.00
R0510:Cpsf1 UTSW 15 76,487,857 (GRCm39) intron probably benign
R0630:Cpsf1 UTSW 15 76,486,171 (GRCm39) missense probably damaging 1.00
R0780:Cpsf1 UTSW 15 76,484,577 (GRCm39) missense probably benign 0.17
R1617:Cpsf1 UTSW 15 76,486,570 (GRCm39) nonsense probably null
R1717:Cpsf1 UTSW 15 76,486,766 (GRCm39) missense possibly damaging 0.77
R1889:Cpsf1 UTSW 15 76,486,356 (GRCm39) missense probably benign 0.06
R1994:Cpsf1 UTSW 15 76,487,360 (GRCm39) missense probably benign 0.03
R2168:Cpsf1 UTSW 15 76,487,937 (GRCm39) missense possibly damaging 0.69
R2359:Cpsf1 UTSW 15 76,481,873 (GRCm39) missense probably benign 0.02
R2697:Cpsf1 UTSW 15 76,483,529 (GRCm39) missense probably damaging 1.00
R2847:Cpsf1 UTSW 15 76,487,051 (GRCm39) missense probably damaging 1.00
R2848:Cpsf1 UTSW 15 76,487,051 (GRCm39) missense probably damaging 1.00
R3409:Cpsf1 UTSW 15 76,485,981 (GRCm39) nonsense probably null
R3410:Cpsf1 UTSW 15 76,485,981 (GRCm39) nonsense probably null
R3815:Cpsf1 UTSW 15 76,485,349 (GRCm39) missense probably benign 0.22
R4491:Cpsf1 UTSW 15 76,481,922 (GRCm39) missense possibly damaging 0.85
R4615:Cpsf1 UTSW 15 76,481,137 (GRCm39) missense possibly damaging 0.88
R5227:Cpsf1 UTSW 15 76,483,148 (GRCm39) missense probably damaging 1.00
R5353:Cpsf1 UTSW 15 76,486,771 (GRCm39) missense probably damaging 1.00
R5548:Cpsf1 UTSW 15 76,481,527 (GRCm39) missense possibly damaging 0.95
R5552:Cpsf1 UTSW 15 76,483,846 (GRCm39) missense probably benign 0.27
R5746:Cpsf1 UTSW 15 76,484,037 (GRCm39) missense probably benign 0.01
R6319:Cpsf1 UTSW 15 76,481,167 (GRCm39) missense probably damaging 1.00
R6360:Cpsf1 UTSW 15 76,481,655 (GRCm39) frame shift probably null
R6572:Cpsf1 UTSW 15 76,481,655 (GRCm39) frame shift probably null
R6574:Cpsf1 UTSW 15 76,481,655 (GRCm39) frame shift probably null
R6576:Cpsf1 UTSW 15 76,481,655 (GRCm39) frame shift probably null
R6577:Cpsf1 UTSW 15 76,481,655 (GRCm39) frame shift probably null
R6588:Cpsf1 UTSW 15 76,481,022 (GRCm39) missense probably damaging 1.00
R6595:Cpsf1 UTSW 15 76,486,710 (GRCm39) missense probably damaging 1.00
R6621:Cpsf1 UTSW 15 76,487,719 (GRCm39) missense probably damaging 1.00
R6880:Cpsf1 UTSW 15 76,486,739 (GRCm39) missense probably benign 0.06
R6954:Cpsf1 UTSW 15 76,483,696 (GRCm39) missense probably damaging 1.00
R7100:Cpsf1 UTSW 15 76,480,314 (GRCm39) missense possibly damaging 0.73
R7255:Cpsf1 UTSW 15 76,481,743 (GRCm39) missense probably damaging 1.00
R7318:Cpsf1 UTSW 15 76,481,475 (GRCm39) nonsense probably null
R7371:Cpsf1 UTSW 15 76,484,775 (GRCm39) missense probably damaging 1.00
R7387:Cpsf1 UTSW 15 76,486,766 (GRCm39) missense possibly damaging 0.77
R7446:Cpsf1 UTSW 15 76,485,950 (GRCm39) missense probably benign
R7612:Cpsf1 UTSW 15 76,481,209 (GRCm39) missense probably benign 0.00
R7739:Cpsf1 UTSW 15 76,484,511 (GRCm39) missense probably benign 0.00
R7878:Cpsf1 UTSW 15 76,484,700 (GRCm39) missense probably damaging 1.00
R8334:Cpsf1 UTSW 15 76,487,787 (GRCm39) missense probably benign 0.26
R8345:Cpsf1 UTSW 15 76,485,690 (GRCm39) missense probably benign
R8382:Cpsf1 UTSW 15 76,485,151 (GRCm39) missense probably benign
R8403:Cpsf1 UTSW 15 76,484,483 (GRCm39) missense probably damaging 0.96
R8968:Cpsf1 UTSW 15 76,486,169 (GRCm39) nonsense probably null
R8972:Cpsf1 UTSW 15 76,481,528 (GRCm39) missense probably damaging 1.00
R9257:Cpsf1 UTSW 15 76,484,992 (GRCm39) missense probably benign
R9627:Cpsf1 UTSW 15 76,484,088 (GRCm39) missense probably damaging 0.97
R9776:Cpsf1 UTSW 15 76,486,779 (GRCm39) missense probably damaging 1.00
X0052:Cpsf1 UTSW 15 76,480,502 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CAACTATGGACGCTAGCCTC -3'
(R):5'- GCTGCTAGTGTCCTTACCAC -3'

Sequencing Primer
(F):5'- TGTCCAGCCCACTGCAG -3'
(R):5'- GTCCTTACCACCAGTGTAAGTAGG -3'
Posted On 2015-04-30