Incidental Mutation 'R7255:Cpsf1'
ID 564224
Institutional Source Beutler Lab
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
MMRRC Submission 045316-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7255 (G1)
Quality Score 195.009
Status Validated
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76481743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 1099 (T1099M)
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: T1099M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: T1099M

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: T1099M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 A G 19: 20,692,092 (GRCm39) S234P probably damaging Het
Arhgap28 T C 17: 68,159,999 (GRCm39) H650R probably damaging Het
Asic1 A G 15: 99,595,338 (GRCm39) D355G probably damaging Het
Atp8b1 T A 18: 64,689,939 (GRCm39) S598C probably damaging Het
Bcat1 C A 6: 144,978,511 (GRCm39) E237* probably null Het
Btbd16 A T 7: 130,387,722 (GRCm39) I114F probably benign Het
Casp2 A G 6: 42,245,841 (GRCm39) D166G probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Crisp4 C A 1: 18,200,455 (GRCm39) A116S probably damaging Het
Cyb5r3 A G 15: 83,044,366 (GRCm39) I168T probably damaging Het
Dip2b G A 15: 100,107,508 (GRCm39) D1407N probably benign Het
Dnajc8 A G 4: 132,278,884 (GRCm39) K201R probably benign Het
Dock10 C T 1: 80,520,816 (GRCm39) probably null Het
Dop1b C A 16: 93,567,034 (GRCm39) H1272N probably damaging Het
Dsc1 C T 18: 20,230,330 (GRCm39) R325Q probably benign Het
Enpp1 A T 10: 24,521,213 (GRCm39) I838K possibly damaging Het
Fcna T G 2: 25,516,040 (GRCm39) D159A probably damaging Het
Flnc G T 6: 29,445,765 (GRCm39) G840C probably damaging Het
Flt1 C T 5: 147,517,216 (GRCm39) A1024T probably damaging Het
Galc T C 12: 98,212,514 (GRCm39) K207R probably null Het
Gbp2b T A 3: 142,313,878 (GRCm39) L386Q probably damaging Het
Gm8297 T A 14: 16,165,868 (GRCm39) N48K probably damaging Het
Gm9639 G A 10: 77,630,372 (GRCm39) P180L unknown Het
Inpp5a A G 7: 139,091,364 (GRCm39) N116S probably damaging Het
Ipo9 T C 1: 135,313,726 (GRCm39) E984G probably benign Het
Klra4 A G 6: 130,036,605 (GRCm39) F145L probably damaging Het
Lag3 A G 6: 124,887,198 (GRCm39) L123P probably benign Het
Lyz3 T C 10: 117,070,327 (GRCm39) H150R probably benign Het
Med7 T A 11: 46,331,822 (GRCm39) M139K probably damaging Het
Mfsd2a A C 4: 122,845,814 (GRCm39) L153R possibly damaging Het
Mup9 A G 4: 60,377,336 (GRCm39) V71A probably benign Het
Myo16 A T 8: 10,549,169 (GRCm39) Q927L unknown Het
Myo9b T C 8: 71,743,535 (GRCm39) Y199H probably damaging Het
Nefm A G 14: 68,353,449 (GRCm39) F406L probably benign Het
Or10ag2 T A 2: 87,249,286 (GRCm39) L296Q probably damaging Het
Or10ak11 A T 4: 118,687,149 (GRCm39) F162I probably benign Het
Pamr1 T C 2: 102,441,929 (GRCm39) F173L probably damaging Het
Pds5b T A 5: 150,720,132 (GRCm39) D1205E probably benign Het
Plxna2 T G 1: 194,434,411 (GRCm39) F646V probably benign Het
Pnrc1 C T 4: 33,248,045 (GRCm39) G118D probably benign Het
Ppp1r16b T C 2: 158,603,311 (GRCm39) F412S probably benign Het
Prcc A T 3: 87,777,398 (GRCm39) V192E probably damaging Het
Psg19 A G 7: 18,527,973 (GRCm39) Y257H probably benign Het
Rfx7 T G 9: 72,527,110 (GRCm39) S1433R possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Sanbr G A 11: 23,570,465 (GRCm39) P145L probably benign Het
Sbspon G T 1: 15,954,021 (GRCm39) C86* probably null Het
Sdhb A G 4: 140,704,729 (GRCm39) E230G possibly damaging Het
Sema6b T C 17: 56,432,336 (GRCm39) T581A probably benign Het
Shkbp1 G T 7: 27,042,173 (GRCm39) T594K possibly damaging Het
Shpk A G 11: 73,090,486 (GRCm39) S48G probably benign Het
Slc1a3 A G 15: 8,672,483 (GRCm39) V332A possibly damaging Het
Slc25a25 T C 2: 32,311,384 (GRCm39) E135G possibly damaging Het
Slc5a8 A T 10: 88,745,493 (GRCm39) D367V probably damaging Het
Slco1c1 A G 6: 141,515,051 (GRCm39) T649A probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats1 T A 17: 45,765,131 (GRCm39) D163V probably damaging Het
Ssh2 T A 11: 77,316,419 (GRCm39) M304K probably damaging Het
Sulf1 T A 1: 12,929,232 (GRCm39) D166E probably benign Het
Syne1 A G 10: 5,283,446 (GRCm39) S1540P probably damaging Het
Tcf7l1 A T 6: 72,604,330 (GRCm39) probably null Het
Tet1 A T 10: 62,658,415 (GRCm39) M1477K probably benign Het
Tlr5 T C 1: 182,801,881 (GRCm39) F395S probably damaging Het
Trrap T C 5: 144,795,764 (GRCm39) L3847P probably damaging Het
Tsks C T 7: 44,602,112 (GRCm39) S276L probably benign Het
Uggt1 T C 1: 36,185,187 (GRCm39) E1519G probably damaging Het
Vps13a A G 19: 16,631,703 (GRCm39) probably null Het
Wdfy4 A G 14: 32,696,239 (GRCm39) V2768A Het
Wdr26 A C 1: 181,008,889 (GRCm39) I627R probably benign Het
Zfp160 T A 17: 21,245,749 (GRCm39) S100T probably benign 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
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'- TCCATGATCAGGATCTGGAAGG -3'
(R):5'- TGCAGACGACAGATACATCC -3'

Sequencing Primer
(F):5'- ACGTATGGAGATGGCCCACTC -3'
(R):5'- GACGACAGATACATCCACCCC -3'
Posted On 2019-06-26