Incidental Mutation 'R7739:Cpsf1'
ID 596452
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 045795-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7739 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76484511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 657 (M657L)
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 benign
Transcript: ENSMUST00000071898
AA Change: M657L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: M657L

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 benign
Transcript: ENSMUST00000230157
AA Change: M657L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C A 15: 57,885,875 (GRCm39) A336S probably benign Het
Abca8b A G 11: 109,865,417 (GRCm39) S347P probably benign Het
Acvr1 T C 2: 58,352,983 (GRCm39) T326A possibly damaging Het
Atp13a4 A G 16: 29,275,419 (GRCm39) I355T Het
Atp2a2 G A 5: 122,607,768 (GRCm39) T247I probably damaging Het
Atp2b1 T A 10: 98,837,227 (GRCm39) D555E probably benign Het
Aurkb G T 11: 68,939,058 (GRCm39) G94* probably null Het
B130006D01Rik A T 11: 95,616,986 (GRCm39) H37L unknown Het
Cabin1 A G 10: 75,494,492 (GRCm39) L1629P probably damaging Het
Ccdc168 G A 1: 44,095,578 (GRCm39) T1840I possibly damaging Het
Ccdc80 A C 16: 44,916,186 (GRCm39) D314A probably benign Het
Cdc42bpg T A 19: 6,360,845 (GRCm39) I201N probably damaging Het
Chd9 T C 8: 91,761,653 (GRCm39) L2246P probably damaging Het
Dmtf1 A G 5: 9,190,453 (GRCm39) V87A probably damaging Het
Drd5 G T 5: 38,477,421 (GRCm39) W138L probably damaging Het
Dspp G A 5: 104,326,012 (GRCm39) D792N unknown Het
Fat2 C A 11: 55,171,957 (GRCm39) E2919* probably null Het
Fgf20 A G 8: 40,732,937 (GRCm39) V167A probably damaging Het
Grm5 T C 7: 87,779,266 (GRCm39) V934A possibly damaging Het
Gtf3c3 G T 1: 54,444,198 (GRCm39) A730D possibly damaging Het
H2-T24 A G 17: 36,325,483 (GRCm39) V335A probably benign Het
Havcr2 T G 11: 46,347,384 (GRCm39) N120K probably damaging Het
Hmcn2 T C 2: 31,348,038 (GRCm39) F4895L possibly damaging Het
Igsf3 T C 3: 101,342,847 (GRCm39) Y475H probably damaging Het
Lonp1 T C 17: 56,933,620 (GRCm39) D85G probably benign Het
Lrrc49 T C 9: 60,500,975 (GRCm39) S657G probably benign Het
Lrrk2 T A 15: 91,584,816 (GRCm39) Y382N probably damaging Het
Macf1 T C 4: 123,279,391 (GRCm39) D3870G probably damaging Het
Mtf1 T A 4: 124,718,081 (GRCm39) C260S probably damaging Het
Naa35 A G 13: 59,747,598 (GRCm39) D110G probably damaging Het
Npas3 A T 12: 54,115,501 (GRCm39) T808S probably damaging Het
Or5a1 A G 19: 12,097,909 (GRCm39) W56R probably damaging Het
Pax9 A T 12: 56,746,884 (GRCm39) H240L probably benign Het
Pik3c2a T C 7: 115,993,529 (GRCm39) T413A probably benign Het
Pik3r1 A G 13: 101,846,205 (GRCm39) V127A probably benign Het
Pik3r5 A G 11: 68,381,324 (GRCm39) E170G probably damaging Het
Polr1a T C 6: 71,931,819 (GRCm39) I966T possibly damaging Het
Prelid2 A G 18: 42,045,433 (GRCm39) probably null Het
Rab29 T A 1: 131,799,923 (GRCm39) M166K probably damaging Het
Rab2b T C 14: 52,503,717 (GRCm39) E135G probably damaging Het
Rnf103 T A 6: 71,486,463 (GRCm39) S365T possibly damaging Het
Rnf213 G A 11: 119,301,687 (GRCm39) E387K Het
Sh3d19 T C 3: 86,031,038 (GRCm39) V734A probably benign Het
Spata31e5 T A 1: 28,816,689 (GRCm39) T448S possibly damaging Het
Spmip3 T A 1: 177,570,828 (GRCm39) I54K probably damaging Het
Ssbp1 T G 6: 40,454,914 (GRCm39) N124K probably damaging Het
Tbc1d31 C T 15: 57,799,494 (GRCm39) R227* probably null Het
Tcerg1 A G 18: 42,657,039 (GRCm39) T174A unknown Het
Tenm2 T C 11: 35,960,388 (GRCm39) S980G possibly damaging Het
Trim30a T C 7: 104,079,386 (GRCm39) I156M possibly damaging Het
Trim39 T C 17: 36,571,396 (GRCm39) D454G possibly damaging Het
Trpc7 A T 13: 56,921,579 (GRCm39) *863K probably null Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Vmn1r33 C T 6: 66,589,357 (GRCm39) D66N probably benign Het
Vmn2r8 A T 5: 108,950,043 (GRCm39) I268N probably damaging Het
Vmn2r91 A C 17: 18,356,080 (GRCm39) E582D probably benign Het
Vtcn1 T C 3: 100,791,211 (GRCm39) F83S probably damaging Het
Wdr81 G T 11: 75,332,811 (GRCm39) D684E Het
Wipi1 A G 11: 109,470,535 (GRCm39) S295P probably damaging Het
Zfp27 A T 7: 29,593,699 (GRCm39) H755Q possibly damaging Het
Zfp963 A G 8: 70,195,533 (GRCm39) F307L 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
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
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'- GCAATCACCTTGGACTGCTG -3'
(R):5'- TTGTTCAAGTCTCGCCACTG -3'

Sequencing Primer
(F):5'- ATCACCTTGGACTGCTGTAGGAAG -3'
(R):5'- AACCACCTTGTCCACAGT -3'
Posted On 2019-11-26