Incidental Mutation 'R6572:Cpsf1'
ID 526299
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 044696-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R6572 (G1)
Quality Score 217.468
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (62/64)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,425,961 (GRCm39) Q34* probably null Het
Adamts3 T A 5: 90,009,468 (GRCm39) H65L possibly damaging Het
Ago2 A G 15: 72,998,826 (GRCm39) V257A probably benign Het
Ahnak A G 19: 8,985,340 (GRCm39) K2208R probably damaging Het
Apc2 C T 10: 80,147,613 (GRCm39) S860L probably damaging Het
Arhgap18 A G 10: 26,722,412 (GRCm39) probably null Het
Arhgap33 T C 7: 30,226,635 (GRCm39) E524G probably damaging Het
Ascc3 C T 10: 50,566,343 (GRCm39) Q763* probably null Het
Atg2a T C 19: 6,304,695 (GRCm39) L1184P probably damaging Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Btbd17 A T 11: 114,683,046 (GRCm39) L222Q probably damaging Het
Chst13 G T 6: 90,286,588 (GRCm39) R125S probably benign Het
Cracr2a T C 6: 127,585,715 (GRCm39) probably null Het
Dchs1 T A 7: 105,408,013 (GRCm39) T1940S possibly damaging Het
Ddit4l G T 3: 137,332,111 (GRCm39) R159L probably benign Het
Dock3 A G 9: 106,866,674 (GRCm39) Y679H probably damaging Het
Dyrk4 T G 6: 126,874,201 (GRCm39) I130L probably benign Het
Eml2 T C 7: 18,930,539 (GRCm39) V373A possibly damaging Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Ephb1 A G 9: 101,944,097 (GRCm39) F312L probably benign Het
Fndc9 A T 11: 46,128,708 (GRCm39) I76F probably damaging Het
Frk G A 10: 34,459,963 (GRCm39) R186K probably benign Het
Gpatch3 G T 4: 133,302,191 (GRCm39) G41C probably damaging Het
Greb1l T A 18: 10,522,131 (GRCm39) H633Q probably benign Het
Gstt4 T A 10: 75,650,954 (GRCm39) T223S probably damaging Het
Hpd C T 5: 123,318,739 (GRCm39) E60K probably benign Het
Inpp5d C T 1: 87,623,118 (GRCm39) P403S probably damaging Het
Klk1b9 T A 7: 43,629,159 (GRCm39) I189K probably benign Het
Kmt2e A T 5: 23,702,579 (GRCm39) H239L possibly damaging Het
Lrriq3 A G 3: 154,887,312 (GRCm39) D344G probably benign Het
Neb A G 2: 52,168,859 (GRCm39) I1892T probably damaging Het
Neto2 A T 8: 86,397,033 (GRCm39) I73N possibly damaging Het
Nipal3 A T 4: 135,174,564 (GRCm39) S396T probably benign Het
Or1e35 A G 11: 73,797,629 (GRCm39) S230P possibly damaging Het
Or51q1c T A 7: 103,648,391 (GRCm39) probably null Het
Phf20l1 T A 15: 66,481,396 (GRCm39) V264D probably damaging Het
Pigs A G 11: 78,230,190 (GRCm39) Y319C probably damaging Het
Pkd2l2 T C 18: 34,571,824 (GRCm39) Y608H probably damaging Het
Ppard G T 17: 28,516,093 (GRCm39) E106* probably null Het
Pramel11 C T 4: 143,621,943 (GRCm39) V471I possibly damaging Het
Pramel16 A G 4: 143,676,262 (GRCm39) S281P probably benign Het
Psenen T C 7: 30,261,773 (GRCm39) T48A probably benign Het
Ralgps2 A T 1: 156,651,620 (GRCm39) probably null Het
Ripk4 T A 16: 97,547,105 (GRCm39) R323* probably null Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Scgb2b24 T A 7: 33,437,902 (GRCm39) E68D probably damaging Het
Setx A G 2: 29,063,706 (GRCm39) D2334G possibly damaging Het
Sh3bp4 A G 1: 89,072,643 (GRCm39) D497G possibly damaging Het
Smarca2 A T 19: 26,656,573 (GRCm39) I850F possibly damaging Het
Smyd1 A G 6: 71,202,396 (GRCm39) Y270H probably damaging Het
Spidr T A 16: 15,730,380 (GRCm39) probably null Het
Srms T C 2: 180,854,450 (GRCm39) D39G probably benign Het
Trpc2 T A 7: 101,739,213 (GRCm39) I528N probably damaging Het
Tshr A G 12: 91,505,134 (GRCm39) I691V probably benign Het
Urb1 A C 16: 90,584,302 (GRCm39) V560G probably benign Het
Usp37 A G 1: 74,534,941 (GRCm39) S2P possibly damaging Het
Vmn1r60 G A 7: 5,547,599 (GRCm39) S167F probably benign Het
Vmn2r89 G A 14: 51,693,450 (GRCm39) V267I probably damaging Het
Washc3 T A 10: 88,049,568 (GRCm39) D63E probably benign Het
Wdr89 A G 12: 75,680,159 (GRCm39) S32P probably damaging Het
Zfp157 T C 5: 138,455,313 (GRCm39) S504P 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
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
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'- GCTCCTTCTCATACAGGACC -3'
(R):5'- CAATGCCAGGTAAGGGTGAATC -3'

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