Incidental Mutation 'IGL02008:Cpsf1'
ID 183278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf1
Ensembl Gene ENSMUSG00000034022
Gene Name cleavage and polyadenylation specific factor 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL02008
Quality Score
Status
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76487291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 161 (V161D)
Ref Sequence ENSEMBL: ENSMUSP00000155308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect probably damaging
Transcript: ENSMUST00000071898
AA Change: V161D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: V161D

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: ENSMUST00000229015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect probably damaging
Transcript: ENSMUST00000230157
AA Change: V161D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230557
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Coding Region Coverage
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,969,750 (GRCm39) T2252A probably benign Het
Abcc2 C T 19: 43,810,189 (GRCm39) probably benign Het
Abcf1 T C 17: 36,272,954 (GRCm39) E231G probably benign Het
Astn2 T C 4: 65,977,390 (GRCm39) Y379C probably damaging Het
Atp8b1 G T 18: 64,671,766 (GRCm39) probably benign Het
Atr T A 9: 95,763,473 (GRCm39) probably benign Het
Bdp1 A G 13: 100,160,335 (GRCm39) S2349P possibly damaging Het
Bmp2 T C 2: 133,402,886 (GRCm39) S146P probably damaging Het
Cacna1c T C 6: 118,692,885 (GRCm39) S218G probably null Het
Cand2 T C 6: 115,780,599 (GRCm39) V1161A probably damaging Het
Clec16a T C 16: 10,398,824 (GRCm39) V330A probably damaging Het
Ctsh A G 9: 89,943,600 (GRCm39) Y75C probably damaging Het
Cyp26c1 C A 19: 37,677,371 (GRCm39) L267M probably damaging Het
Cyp26c1 T A 19: 37,677,372 (GRCm39) L267Q probably damaging Het
Cyp2c50 G A 19: 40,079,543 (GRCm39) W212* probably null Het
Dnah5 T A 15: 28,343,698 (GRCm39) M2366K probably damaging Het
Ermp1 A G 19: 29,590,320 (GRCm39) M794T probably damaging Het
F11 G T 8: 45,703,132 (GRCm39) S186Y probably damaging Het
Fam184b A T 5: 45,690,165 (GRCm39) F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 (GRCm38) I347V probably benign Het
Fip1l1 C T 5: 74,706,084 (GRCm39) T114I possibly damaging Het
Gbp7 A C 3: 142,252,211 (GRCm39) D598A probably benign Het
Gm1110 T A 9: 26,794,526 (GRCm39) D500V probably benign Het
Gm3248 T A 14: 5,943,928 (GRCm38) M99L probably benign Het
Gpi-ps A T 8: 5,689,896 (GRCm39) noncoding transcript Het
Hspa9 G A 18: 35,081,028 (GRCm39) R218* probably null Het
Ikbip G A 10: 90,929,119 (GRCm39) probably null Het
Kcnb2 C T 1: 15,781,033 (GRCm39) T635M probably benign Het
Krtap29-1 T A 11: 99,869,105 (GRCm39) I259F possibly damaging Het
Lnpep T C 17: 17,791,219 (GRCm39) T442A probably benign Het
Mgat1 T A 11: 49,151,562 (GRCm39) I15N probably damaging Het
Nlrp9c A T 7: 26,084,576 (GRCm39) S334R probably benign Het
Notch2 A T 3: 98,054,612 (GRCm39) D2425V probably damaging Het
Ntn1 C T 11: 68,104,089 (GRCm39) V520M probably damaging Het
Or10d1b A G 9: 39,613,549 (GRCm39) V172A probably damaging Het
Or4p18 T A 2: 88,232,421 (GRCm39) T286S possibly damaging Het
Or5d39 A T 2: 87,979,922 (GRCm39) V147E probably damaging Het
Or6c3b T A 10: 129,527,887 (GRCm39) T8S probably benign Het
Or8g55 A T 9: 39,784,781 (GRCm39) D70V probably damaging Het
Or8k39 A C 2: 86,563,521 (GRCm39) I145R possibly damaging Het
Osr2 A G 15: 35,302,138 (GRCm39) H246R probably damaging Het
Papolg T C 11: 23,829,898 (GRCm39) R224G probably damaging Het
Pax6 T A 2: 105,522,623 (GRCm39) probably null Het
Pcyox1 A G 6: 86,369,250 (GRCm39) V192A probably benign Het
Phf1 C T 17: 27,154,260 (GRCm39) A159V possibly damaging Het
Ppfia4 G A 1: 134,260,129 (GRCm39) R45W probably damaging Het
Psmb9 T A 17: 34,402,653 (GRCm39) K109M probably damaging Het
Ptprt T A 2: 161,769,593 (GRCm39) Y424F probably benign Het
Ptrh2 A G 11: 86,580,592 (GRCm39) I70V probably benign Het
Rnf213 G A 11: 119,309,135 (GRCm39) probably benign Het
Rom1 T A 19: 8,905,368 (GRCm39) I271F probably benign Het
Satb2 T A 1: 56,835,952 (GRCm39) D731V possibly damaging Het
Serpinb7 G T 1: 107,375,859 (GRCm39) G159V possibly damaging Het
Slit1 T C 19: 41,634,579 (GRCm39) I393V probably damaging Het
Spata20 T A 11: 94,374,289 (GRCm39) D327V probably damaging Het
Spata31e3 G A 13: 50,400,721 (GRCm39) P535L probably benign Het
Spmap2l A T 5: 77,208,605 (GRCm39) I378L probably benign Het
Tbc1d32 G T 10: 56,027,871 (GRCm39) Q744K possibly damaging Het
Tmem108 G T 9: 103,366,439 (GRCm39) N517K possibly damaging Het
Trp63 T A 16: 25,681,211 (GRCm39) N160K probably damaging Het
Ttll5 T C 12: 85,980,385 (GRCm39) S119P probably damaging Het
Ubqln3 T A 7: 103,791,523 (GRCm39) Q189L probably damaging Het
Vwa5a G A 9: 38,649,072 (GRCm39) R638H probably benign Het
Wdr3 A G 3: 100,058,298 (GRCm39) S436P probably damaging Het
Zfp975 A T 7: 42,312,215 (GRCm39) C133S probably damaging Het
Zfp976 A T 7: 42,263,656 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,657,303 (GRCm39) M860V probably damaging Het
Zscan4d T C 7: 10,896,296 (GRCm39) E358G 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
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
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
Posted On 2014-05-07