Incidental Mutation 'R7878:Cpsf1'
ID 608596
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 045930-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7878 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76484700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 619 (V619A)
Ref Sequence ENSEMBL: ENSMUSP00000071794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000161732] [ENSMUST00000162503] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect probably damaging
Transcript: ENSMUST00000071898
AA Change: V619A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: V619A

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 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 probably benign
Transcript: ENSMUST00000161612
SMART Domains Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161732
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000229287
Predicted Effect probably damaging
Transcript: ENSMUST00000230157
AA Change: V619A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G A 10: 20,857,330 (GRCm39) probably null Het
Ak7 T A 12: 105,733,008 (GRCm39) I584N probably damaging Het
Akip1 A T 7: 109,306,609 (GRCm39) Y102F probably damaging Het
Alg9 T C 9: 50,754,083 (GRCm39) Y588H probably benign Het
Arid1a A T 4: 133,414,582 (GRCm39) N831K unknown Het
Bcl2l11 T A 2: 127,970,608 (GRCm39) L19* probably null Het
Btn1a1 T C 13: 23,643,214 (GRCm39) T412A possibly damaging Het
Ccbe1 T C 18: 66,209,462 (GRCm39) N193D possibly damaging Het
Ccdc168 T C 1: 44,095,174 (GRCm39) S1975G probably benign Het
Cd96 A G 16: 45,938,139 (GRCm39) S109P probably damaging Het
Cdh23 A C 10: 60,149,979 (GRCm39) I2622S possibly damaging Het
Cmya5 G T 13: 93,226,265 (GRCm39) T2941K probably damaging Het
Cntn1 T C 15: 92,192,934 (GRCm39) Y679H probably damaging Het
Elp5 T A 11: 69,861,425 (GRCm39) I185F probably damaging Het
Frem1 A G 4: 82,938,917 (GRCm39) V55A probably benign Het
Kif1b A T 4: 149,299,454 (GRCm39) Y985N probably damaging Het
Lao1 A G 4: 118,824,619 (GRCm39) N234D probably benign Het
Lima1 C T 15: 99,717,431 (GRCm39) V192I probably benign Het
Lrp2 T G 2: 69,338,153 (GRCm39) D1209A probably damaging Het
Lrp2 C A 2: 69,338,154 (GRCm39) D1209Y probably damaging Het
Luzp1 A G 4: 136,269,163 (GRCm39) H462R probably benign Het
Mab21l1 A T 3: 55,691,438 (GRCm39) T342S probably benign Het
Mst1 T C 9: 107,961,812 (GRCm39) V657A probably benign Het
Mtmr11 A G 3: 96,076,515 (GRCm39) K490R probably benign Het
Myh3 A G 11: 66,978,077 (GRCm39) D383G probably damaging Het
Nectin1 G A 9: 43,715,198 (GRCm39) G478D probably benign Het
Nrip1 A G 16: 76,091,554 (GRCm39) M1T probably null Het
Odad1 A G 7: 45,573,984 (GRCm39) E17G possibly damaging Het
Odad2 G T 18: 7,217,801 (GRCm39) H638N probably benign Het
Or1j10 A G 2: 36,267,145 (GRCm39) D119G probably damaging Het
Or52z15 A T 7: 103,332,471 (GRCm39) H182L probably damaging Het
Pnisr C A 4: 21,874,370 (GRCm39) F704L unknown Het
Ptpn21 T A 12: 98,681,387 (GRCm39) K82N probably damaging Het
Pyroxd2 T G 19: 42,731,104 (GRCm39) probably null Het
Pzp A G 6: 128,489,274 (GRCm39) S446P possibly damaging Het
Rbck1 T A 2: 152,160,330 (GRCm39) I450F probably damaging Het
Rnase4 T A 14: 51,342,333 (GRCm39) L19Q probably damaging Het
Rrp9 A G 9: 106,358,516 (GRCm39) E118G probably damaging Het
Sec22a A G 16: 35,168,005 (GRCm39) S169P probably benign Het
Sema5b G A 16: 35,481,996 (GRCm39) S957N probably benign Het
Serpina3g A T 12: 104,204,361 (GRCm39) probably benign Het
Skint2 A T 4: 112,506,942 (GRCm39) I322F possibly damaging Het
Spata31h1 G A 10: 82,119,856 (GRCm39) R4385W probably benign Het
Sspo G A 6: 48,469,460 (GRCm39) C4471Y probably damaging Het
Stk16 T A 1: 75,189,589 (GRCm39) L167* probably null Het
Tanc2 G A 11: 105,804,241 (GRCm39) R245H Het
Tdpoz1 G A 3: 93,578,431 (GRCm39) Q118* probably null Het
Tekt3 C T 11: 62,961,277 (GRCm39) R149* probably null Het
Tenm4 A G 7: 96,501,564 (GRCm39) E1256G probably damaging Het
Tie1 G A 4: 118,335,621 (GRCm39) R791C probably damaging Het
Tpr T A 1: 150,299,411 (GRCm39) S1204T possibly damaging Het
Trim28 G T 7: 12,758,289 (GRCm39) probably benign Het
Ucp1 A G 8: 84,024,521 (GRCm39) N282S probably benign Het
Unc80 T A 1: 66,640,300 (GRCm39) D1402E possibly damaging Het
Vmn1r69 T A 7: 10,314,717 (GRCm39) T5S probably benign Het
Zfyve28 T A 5: 34,356,999 (GRCm39) K733M 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
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
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
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'- TGATAACCACATAGGGATCAGCC -3'
(R):5'- TTATTCTTAGCCGGGAAGACTC -3'

Sequencing Primer
(F):5'- ATAGGGATCAGCCACGGCAC -3'
(R):5'- TTAGCCGGGAAGACTCAACCATG -3'
Posted On 2019-12-20