Incidental Mutation 'IGL01599:Cpsf1'
ID 92055
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 # IGL01599
Quality Score
Status
Chromosome 15
Chromosomal Location 76480003-76491791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76480741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1295 (L1295P)
Ref Sequence ENSEMBL: ENSMUSP00000155308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071898] [ENSMUST00000160784] [ENSMUST00000161612] [ENSMUST00000162503] [ENSMUST00000161732] [ENSMUST00000230157] [ENSMUST00000231042]
AlphaFold Q9EPU4
Predicted Effect probably damaging
Transcript: ENSMUST00000071898
AA Change: L1295P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: L1295P

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: ENSMUST00000159949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229007
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: 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: ENSMUST00000229269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229367
Predicted Effect probably benign
Transcript: ENSMUST00000161732
SMART Domains Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550

DomainStartEndE-ValueType
transmembrane domain 50 69 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000230157
AA Change: L1295P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230081
Predicted Effect probably benign
Transcript: ENSMUST00000231042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229798
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229437
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,856 (GRCm39) V105A probably benign Het
Acr T C 15: 89,452,617 (GRCm39) V18A probably benign Het
Adgra2 G A 8: 27,608,761 (GRCm39) A540T possibly damaging Het
Aldh16a1 A G 7: 44,791,517 (GRCm39) F753L probably damaging Het
Ankfy1 T A 11: 72,629,191 (GRCm39) Y338N probably benign Het
Aox3 C T 1: 58,208,953 (GRCm39) R829C probably damaging Het
Arhgef11 T C 3: 87,644,353 (GRCm39) S1535P probably benign Het
C4b A G 17: 34,961,993 (GRCm39) probably benign Het
Ccdc157 A G 11: 4,098,781 (GRCm39) C242R probably damaging Het
Cep135 T A 5: 76,741,194 (GRCm39) M90K possibly damaging Het
Cfap36 A T 11: 29,194,057 (GRCm39) probably null Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Copb2 T C 9: 98,463,203 (GRCm39) S473P probably damaging Het
Cpb1 C T 3: 20,306,118 (GRCm39) probably null Het
Dmp1 C T 5: 104,360,328 (GRCm39) Q335* probably null Het
Dyrk1a T A 16: 94,492,743 (GRCm39) S621T possibly damaging Het
Exoc5 T A 14: 49,272,421 (GRCm39) Q331L probably benign Het
Fmnl1 G A 11: 103,077,482 (GRCm39) V287M probably damaging Het
Fras1 T C 5: 96,857,750 (GRCm39) S2015P possibly damaging Het
Gm7052 T C 17: 22,258,985 (GRCm39) probably benign Het
Gprc5c A G 11: 114,755,078 (GRCm39) I252V probably benign Het
Ints3 C T 3: 90,301,629 (GRCm39) probably null Het
L1td1 A G 4: 98,625,581 (GRCm39) D592G probably damaging Het
Lamb3 A G 1: 193,025,720 (GRCm39) M1137V probably benign Het
Leng8 C A 7: 4,148,481 (GRCm39) A751E probably benign Het
Lfng T C 5: 140,598,290 (GRCm39) V204A probably damaging Het
Lsm14b A G 2: 179,674,396 (GRCm39) D233G probably damaging Het
Map4 C T 9: 109,863,836 (GRCm39) P354S probably benign Het
Mapt G A 11: 104,185,741 (GRCm39) V53M probably damaging Het
Mier1 T G 4: 103,012,738 (GRCm39) S377A possibly damaging Het
Neurog1 T C 13: 56,399,660 (GRCm39) D29G probably damaging Het
Npr3 G A 15: 11,895,875 (GRCm39) A257V probably damaging Het
Nup188 T C 2: 30,217,537 (GRCm39) V824A possibly damaging Het
Olfm4 T C 14: 80,258,750 (GRCm39) S333P probably damaging Het
Or7g30 T G 9: 19,353,111 (GRCm39) F301V probably benign Het
Or9a4 A C 6: 40,549,186 (GRCm39) I289L probably damaging Het
Pbxip1 C A 3: 89,350,897 (GRCm39) probably benign Het
Pde9a G T 17: 31,633,124 (GRCm39) C38F probably damaging Het
Plb1 A T 5: 32,499,888 (GRCm39) probably benign Het
Plcz1 T C 6: 139,947,982 (GRCm39) probably benign Het
Plxnb1 T C 9: 108,939,672 (GRCm39) V1447A probably damaging Het
Pnldc1 A T 17: 13,125,415 (GRCm39) M73K probably benign Het
Psg20 C T 7: 18,414,963 (GRCm39) V311M possibly damaging Het
Psmd2 G T 16: 20,478,155 (GRCm39) probably null Het
Rabgap1 T C 2: 37,446,281 (GRCm39) V859A probably damaging Het
Rad51b T A 12: 79,374,002 (GRCm39) S194T probably benign Het
Rb1cc1 C T 1: 6,318,995 (GRCm39) Q788* probably null Het
Ror2 C T 13: 53,265,653 (GRCm39) G468R probably damaging Het
Slamf7 A G 1: 171,468,754 (GRCm39) I46T possibly damaging Het
Stab2 A G 10: 86,758,759 (GRCm39) S1060P probably damaging Het
Syndig1 T A 2: 149,845,203 (GRCm39) V242E probably damaging Het
Tgfbr3 G A 5: 107,266,317 (GRCm39) T801M probably damaging Het
Tmem132c T C 5: 127,436,616 (GRCm39) probably benign Het
Trav21-dv12 T C 14: 54,114,188 (GRCm39) Y103H probably damaging Het
Tut4 T C 4: 108,370,596 (GRCm39) S871P possibly damaging Het
Ubr3 T C 2: 69,768,522 (GRCm39) V443A probably damaging Het
Uhrf2 G T 19: 30,069,520 (GRCm39) C749F probably damaging Het
Ulk2 G T 11: 61,682,262 (GRCm39) S751* probably null Het
Wrn G A 8: 33,731,039 (GRCm39) P1098S possibly damaging Het
Xrcc5 T C 1: 72,385,508 (GRCm39) V533A possibly damaging Het
Zc3h13 T C 14: 75,547,163 (GRCm39) S223P 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
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
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 2013-12-09