Incidental Mutation 'R0487:Cpsf1'
ID 42374
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 038686-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R0487 (G1)
Quality Score 181
Status Not validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76481202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1218 (N1218I)
Ref Sequence ENSEMBL: ENSMUSP00000071794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000162503] [ENSMUST00000161732] [ENSMUST00000161612] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect probably damaging
Transcript: ENSMUST00000071898
AA Change: N1218I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: N1218I

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: ENSMUST00000159005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160410
Predicted Effect probably benign
Transcript: ENSMUST00000160784
SMART Domains Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 9.2e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162139
Predicted Effect probably benign
Transcript: ENSMUST00000162503
SMART Domains Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Pfam:ABC1 188 304 2.3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229015
Predicted Effect probably benign
Transcript: ENSMUST00000229287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229367
Predicted Effect probably benign
Transcript: ENSMUST00000161732
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229007
Predicted Effect probably benign
Transcript: ENSMUST00000161612
SMART Domains Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000230157
AA Change: N1218I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230557
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,281,687 (GRCm39) M3190L probably benign Het
Adgrv1 A T 13: 81,637,154 (GRCm39) L3429H probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Ahnak A G 19: 8,984,515 (GRCm39) N1933S probably benign Het
Amacr A G 15: 10,984,835 (GRCm39) D151G probably benign Het
Ano9 A T 7: 140,687,762 (GRCm39) H255Q possibly damaging Het
Asphd2 A T 5: 112,539,501 (GRCm39) Y111N possibly damaging Het
Cage1 T A 13: 38,209,334 (GRCm39) K214N probably benign Het
Cdkn2c A G 4: 109,518,606 (GRCm39) L116P probably damaging Het
Cltc C T 11: 86,624,490 (GRCm39) R148H probably damaging Het
Cmbl A G 15: 31,582,176 (GRCm39) N58D probably damaging Het
Cpa6 T C 1: 10,479,487 (GRCm39) T249A possibly damaging Het
Csf2rb T C 15: 78,232,531 (GRCm39) S613P probably benign Het
Ctnnd1 A G 2: 84,439,411 (GRCm39) S761P probably damaging Het
Cxcr6 A C 9: 123,639,463 (GRCm39) I155L probably benign Het
Ecpas A G 4: 58,819,155 (GRCm39) V1265A probably damaging Het
Fam216a A G 5: 122,508,576 (GRCm39) probably null Het
Fgf10 T A 13: 118,918,147 (GRCm39) probably null Het
Fgf17 T C 14: 70,875,996 (GRCm39) T79A probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm1527 G T 3: 28,980,828 (GRCm39) V643L probably benign Het
Hmcn2 A T 2: 31,276,689 (GRCm39) Q1556L possibly damaging Het
Hspa4l C T 3: 40,738,758 (GRCm39) T616I possibly damaging Het
Irag2 A G 6: 145,110,986 (GRCm39) S264G probably benign Het
Irgm1 T C 11: 48,757,154 (GRCm39) D219G probably damaging Het
Jcad A G 18: 4,673,243 (GRCm39) D335G probably damaging Het
Kcnh4 A G 11: 100,641,084 (GRCm39) F455S probably damaging Het
Khdrbs3 T C 15: 68,889,210 (GRCm39) Y120H probably damaging Het
Kndc1 A T 7: 139,493,939 (GRCm39) T507S probably null Het
Lepr G T 4: 101,625,290 (GRCm39) E482* probably null Het
Mcemp1 T A 8: 3,717,507 (GRCm39) M146K probably benign Het
Mllt10 A G 2: 18,211,948 (GRCm39) T411A probably damaging Het
Myh8 A T 11: 67,192,837 (GRCm39) I1543L probably benign Het
Myo1f T C 17: 33,797,258 (GRCm39) S147P probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Or5j1 C T 2: 86,878,837 (GRCm39) V248I probably damaging Het
Plaat1 G A 16: 29,039,331 (GRCm39) probably null Het
Plch2 G A 4: 155,093,469 (GRCm39) R57C probably damaging Het
Rbm20 G A 19: 53,839,626 (GRCm39) G872R probably damaging Het
Retsat A T 6: 72,583,414 (GRCm39) I373F probably damaging Het
Rnf145 T C 11: 44,446,056 (GRCm39) F297L probably benign Het
Ros1 A T 10: 52,031,204 (GRCm39) M479K possibly damaging Het
Rubcnl T A 14: 75,273,521 (GRCm39) N244K probably benign Het
Samhd1 A G 2: 156,952,535 (GRCm39) F406L probably damaging Het
Sdsl A T 5: 120,597,533 (GRCm39) V258D probably damaging Het
Sec24c C G 14: 20,733,467 (GRCm39) P166A probably benign Het
Sele C A 1: 163,881,184 (GRCm39) Y461* probably null Het
Slc22a1 G T 17: 12,881,487 (GRCm39) S334* probably null Het
Spem1 T G 11: 69,712,691 (GRCm39) probably null Het
Stat3 T C 11: 100,794,469 (GRCm39) E280G probably damaging Het
Stxbp4 T C 11: 90,483,186 (GRCm39) H280R probably benign Het
Tas2r129 G A 6: 132,928,906 (GRCm39) C281Y probably benign Het
Tas2r129 T G 6: 132,928,907 (GRCm39) C281W probably benign Het
Tcp11 T A 17: 28,298,897 (GRCm39) probably null Het
Tnrc6b G A 15: 80,764,876 (GRCm39) V793M probably benign Het
Vmn2r59 A C 7: 41,696,528 (GRCm39) Y71* probably null Het
Wdr35 T C 12: 9,062,743 (GRCm39) probably null Het
Zan A G 5: 137,411,620 (GRCm39) probably null Het
Zap70 G T 1: 36,818,365 (GRCm39) V351L probably damaging Het
Zfp609 G T 9: 65,609,916 (GRCm39) Q1016K unknown Het
Zfp641 C A 15: 98,187,060 (GRCm39) V188L probably benign Het
Zpld2 A T 4: 133,930,089 (GRCm39) L72Q probably 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
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
R4030:Cpsf1 UTSW 15 76,485,979 (GRCm39) missense possibly damaging 0.96
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'- GGCATTGTCCACCATGAAGTCCAC -3'
(R):5'- AAAAGTGTGTGACCTCTCCCCTCC -3'

Sequencing Primer
(F):5'- GTATACCTCCAAAGGCTTGGC -3'
(R):5'- cctctcccctcccctcc -3'
Posted On 2013-05-23