Incidental Mutation 'R6574:Cpsf1'
ID 523367
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 044698-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R6574 (G1)
Quality Score 200.468
Status Not validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CCCCTGCATGAGGCAGGTCCC to CCCC at 76481655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000162503] [ENSMUST00000161732] [ENSMUST00000161612] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect probably null
Transcript: ENSMUST00000071898
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022

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: ENSMUST00000229269
Predicted Effect probably benign
Transcript: ENSMUST00000229287
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 noncoding transcript
Transcript: ENSMUST00000161311
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: ENSMUST00000229367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162254
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 noncoding transcript
Transcript: ENSMUST00000162139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
Predicted Effect probably null
Transcript: ENSMUST00000230157
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A C 3: 146,356,613 (GRCm39) D98E probably benign Het
Ackr3 T C 1: 90,141,790 (GRCm39) I83T probably damaging Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ano1 A C 7: 144,161,653 (GRCm39) probably null Het
Arap1 T A 7: 101,053,208 (GRCm39) I532N probably damaging Het
Bsn A G 9: 107,991,153 (GRCm39) V1533A possibly damaging Het
Ccdc83 T C 7: 89,875,885 (GRCm39) S329G possibly damaging Het
Ccno T A 13: 113,124,719 (GRCm39) D96E probably benign Het
Degs1 T C 1: 182,106,638 (GRCm39) Y207C probably damaging Het
Dnah7a A T 1: 53,495,693 (GRCm39) probably null Het
Dnah9 C T 11: 66,059,107 (GRCm39) A63T probably benign Het
Eif4e1b T C 13: 54,932,711 (GRCm39) F100S probably damaging Het
Eps8 A T 6: 137,460,596 (GRCm39) Y722* probably null Het
Etfa A T 9: 55,402,910 (GRCm39) I96N probably damaging Het
Flt4 A G 11: 49,516,199 (GRCm39) T101A probably benign Het
Gabra4 A G 5: 71,781,268 (GRCm39) I381T probably benign Het
Gria2 A G 3: 80,596,603 (GRCm39) V821A probably damaging Het
Gss G T 2: 155,423,931 (GRCm39) T51K probably damaging Het
Igkv13-84 C A 6: 68,916,977 (GRCm39) Y91* probably null Het
Iqcb1 A T 16: 36,691,863 (GRCm39) Q487H probably damaging Het
Itga8 G A 2: 12,234,972 (GRCm39) H429Y probably benign Het
Myo1c T G 11: 75,547,124 (GRCm39) probably benign Het
Odad2 C A 18: 7,129,394 (GRCm39) probably null Het
Pcdhga5 T C 18: 37,828,434 (GRCm39) L294P probably damaging Het
Pkd2l2 T C 18: 34,558,134 (GRCm39) L271P probably damaging Het
Plcb2 T C 2: 118,549,654 (GRCm39) D290G probably damaging Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Ppp1r15a T C 7: 45,173,533 (GRCm39) D425G probably benign Het
Ppp2r3d G A 9: 101,071,584 (GRCm39) P678L probably benign Het
Ptbp2 T G 3: 119,541,596 (GRCm39) Q147P probably damaging Het
Sez6l A G 5: 112,724,692 (GRCm39) S15P possibly damaging Het
Slc25a10 T C 11: 120,387,903 (GRCm39) F199L probably benign Het
Slc4a8 A G 15: 100,705,197 (GRCm39) N801S probably damaging Het
Sucnr1 T C 3: 59,994,020 (GRCm39) Y183H probably damaging Het
Tmem67 T C 4: 12,063,086 (GRCm39) D520G possibly damaging Het
Trgc3 G T 13: 19,445,293 (GRCm39) R80S probably benign Het
Trrap G T 5: 144,752,360 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,473,331 (GRCm39) P803L probably benign Het
Ubash3a A T 17: 31,451,370 (GRCm39) Q423L probably damaging Het
Ucp1 G A 8: 84,020,718 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,476,421 (GRCm39) N425K probably damaging Het
Vps52 A G 17: 34,181,452 (GRCm39) M418V probably null 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
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
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'- GCTCCTTCTCATACAGGACC -3'
(R):5'- CAATGCCAGGTAAGGGTGAATC -3'

Sequencing Primer
(F):5'- CTCATACAGGACCTTGAATTTGTTC -3'
(R):5'- CCAGGTAAGGGTGAATCTAGCAG -3'
Posted On 2018-06-22