Incidental Mutation 'R0450:Pcf11'
ID 39600
Institutional Source Beutler Lab
Gene Symbol Pcf11
Ensembl Gene ENSMUSG00000041328
Gene Name PCF11 cleavage and polyadenylation factor subunit
Synonyms 5730417B17Rik, 2500001H09Rik
MMRRC Submission 038650-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R0450 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 92292751-92319142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 92307039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 1043 (P1043L)
Ref Sequence ENSEMBL: ENSMUSP00000113717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119954]
AlphaFold G3X9Z4
Predicted Effect probably damaging
Transcript: ENSMUST00000119954
AA Change: P1043L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: P1043L

DomainStartEndE-ValueType
RPR 17 139 6.74e-43 SMART
low complexity region 173 194 N/A INTRINSIC
coiled coil region 202 243 N/A INTRINSIC
low complexity region 355 380 N/A INTRINSIC
low complexity region 421 434 N/A INTRINSIC
low complexity region 471 513 N/A INTRINSIC
low complexity region 793 819 N/A INTRINSIC
low complexity region 833 853 N/A INTRINSIC
internal_repeat_1 854 931 1.77e-14 PROSPERO
low complexity region 932 948 N/A INTRINSIC
internal_repeat_1 969 1105 1.77e-14 PROSPERO
low complexity region 1159 1178 N/A INTRINSIC
low complexity region 1294 1315 N/A INTRINSIC
low complexity region 1445 1458 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151177
AA Change: P965L
SMART Domains Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: P965L

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
low complexity region 147 172 N/A INTRINSIC
low complexity region 213 226 N/A INTRINSIC
low complexity region 263 305 N/A INTRINSIC
low complexity region 716 742 N/A INTRINSIC
low complexity region 756 776 N/A INTRINSIC
internal_repeat_1 777 854 3.34e-13 PROSPERO
low complexity region 855 871 N/A INTRINSIC
internal_repeat_1 892 1028 3.34e-13 PROSPERO
low complexity region 1082 1101 N/A INTRINSIC
low complexity region 1217 1238 N/A INTRINSIC
low complexity region 1368 1381 N/A INTRINSIC
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]
Allele List at MGI

All alleles(13) : Targeted, other(2) Gene trapped(11)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl G A 2: 127,722,423 (GRCm39) probably null Het
AI606181 A C 19: 41,582,170 (GRCm39) K113N unknown Het
Ankrd11 T C 8: 123,618,914 (GRCm39) D1646G possibly damaging Het
Ap2m1 T A 16: 20,360,990 (GRCm39) I334N possibly damaging Het
Arih2 T A 9: 108,482,291 (GRCm39) H490L possibly damaging Het
Ccdc168 T A 1: 44,100,257 (GRCm39) K280N possibly damaging Het
Cdhr1 T C 14: 36,802,633 (GRCm39) Y610C probably damaging Het
Cdkal1 C A 13: 29,875,579 (GRCm39) probably null Het
Cep76 A T 18: 67,767,850 (GRCm39) N227K probably benign Het
Clca4b A T 3: 144,619,112 (GRCm39) Y676N probably damaging Het
Cog2 T C 8: 125,255,797 (GRCm39) probably null Het
Col6a4 A T 9: 105,957,746 (GRCm39) V26D probably damaging Het
Dcaf11 T C 14: 55,806,537 (GRCm39) V446A probably damaging Het
Dync1h1 C A 12: 110,606,378 (GRCm39) Q2483K probably benign Het
Enpp3 A T 10: 24,652,679 (GRCm39) D759E probably damaging Het
Etfbkmt C T 6: 149,052,082 (GRCm39) R96W probably benign Het
Fam83a C A 15: 57,873,322 (GRCm39) Q384K probably benign Het
Glipr1l2 A G 10: 111,928,477 (GRCm39) D124G probably benign Het
Gucy2e T C 11: 69,126,402 (GRCm39) D326G probably benign Het
Hnrnph3 T A 10: 62,853,994 (GRCm39) R41S probably benign Het
Hnrnph3 T A 10: 62,855,279 (GRCm39) D2V probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr2 T C 6: 146,319,477 (GRCm39) T188A possibly damaging Het
Krt23 T A 11: 99,377,608 (GRCm39) I133L probably damaging Het
Krt74 T C 15: 101,671,751 (GRCm39) noncoding transcript Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Map1a A T 2: 121,136,255 (GRCm39) H2357L probably benign Het
Mbl1 A G 14: 40,880,706 (GRCm39) N198S probably damaging Het
Mcf2l A G 8: 13,047,337 (GRCm39) D233G probably damaging Het
Mdga2 T C 12: 66,517,700 (GRCm39) K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 (GRCm39) N3524S probably benign Het
Mospd3 A G 5: 137,595,294 (GRCm39) L233P probably damaging Het
Msto1 A G 3: 88,818,848 (GRCm39) L269P probably benign Het
Or4a39 A T 2: 89,237,135 (GRCm39) M96K probably damaging Het
Or5p5 T C 7: 107,413,895 (GRCm39) Y35H probably damaging Het
Or5w15 A G 2: 87,567,825 (GRCm39) V281A probably damaging Het
Or8b12i T C 9: 20,082,561 (GRCm39) Y102C probably benign Het
Or8g27 G A 9: 39,129,024 (GRCm39) V124I possibly damaging Het
Parp2 T A 14: 51,057,130 (GRCm39) Y361N probably damaging Het
Phf24 G T 4: 42,933,761 (GRCm39) V48L possibly damaging Het
Pkn1 C A 8: 84,398,953 (GRCm39) C678F probably damaging Het
Plcl2 T C 17: 50,915,010 (GRCm39) L673P probably damaging Het
Ppp1r3c A T 19: 36,711,617 (GRCm39) F51Y possibly damaging Het
Rem2 T C 14: 54,713,754 (GRCm39) probably benign Het
Smpdl3b A G 4: 132,472,449 (GRCm39) V108A probably damaging Het
Sncaip A G 18: 53,001,781 (GRCm39) T101A probably benign Het
Stk11 T C 10: 79,961,920 (GRCm39) V47A probably damaging Het
Tmpo A C 10: 90,998,958 (GRCm39) I276M probably benign Het
Trim55 G T 3: 19,725,256 (GRCm39) V258L possibly damaging Het
Ttn A G 2: 76,560,756 (GRCm39) V29215A probably damaging Het
Ubr4 T G 4: 139,157,534 (GRCm39) S2364A probably benign Het
Unc79 T A 12: 103,045,329 (GRCm39) probably null Het
Upb1 T C 10: 75,250,917 (GRCm39) probably null Het
Usp47 T C 7: 111,655,787 (GRCm39) S155P possibly damaging Het
Zfp628 A T 7: 4,922,732 (GRCm39) Q318L probably benign Het
Zfp729b A T 13: 67,739,253 (GRCm39) V1004E probably benign Het
Other mutations in Pcf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Pcf11 APN 7 92,310,894 (GRCm39) missense possibly damaging 0.51
IGL02439:Pcf11 APN 7 92,311,049 (GRCm39) missense possibly damaging 0.93
IGL02658:Pcf11 APN 7 92,296,254 (GRCm39) missense probably damaging 1.00
IGL02702:Pcf11 APN 7 92,310,826 (GRCm39) missense possibly damaging 0.76
3-1:Pcf11 UTSW 7 92,307,726 (GRCm39) missense probably damaging 1.00
R0015:Pcf11 UTSW 7 92,307,525 (GRCm39) missense probably benign 0.28
R0015:Pcf11 UTSW 7 92,307,525 (GRCm39) missense probably benign 0.28
R0078:Pcf11 UTSW 7 92,318,767 (GRCm39) missense possibly damaging 0.90
R0110:Pcf11 UTSW 7 92,307,039 (GRCm39) missense probably damaging 1.00
R0373:Pcf11 UTSW 7 92,310,423 (GRCm39) missense probably benign
R1717:Pcf11 UTSW 7 92,312,793 (GRCm39) missense probably benign 0.00
R1952:Pcf11 UTSW 7 92,310,546 (GRCm39) missense probably damaging 1.00
R1965:Pcf11 UTSW 7 92,310,809 (GRCm39) missense probably benign
R2045:Pcf11 UTSW 7 92,311,087 (GRCm39) missense probably damaging 1.00
R2245:Pcf11 UTSW 7 92,315,080 (GRCm39) unclassified probably benign
R3824:Pcf11 UTSW 7 92,308,828 (GRCm39) intron probably benign
R4439:Pcf11 UTSW 7 92,307,225 (GRCm39) missense probably damaging 0.99
R4517:Pcf11 UTSW 7 92,295,696 (GRCm39) missense probably damaging 1.00
R4671:Pcf11 UTSW 7 92,306,737 (GRCm39) missense possibly damaging 0.62
R4674:Pcf11 UTSW 7 92,308,985 (GRCm39) intron probably benign
R4675:Pcf11 UTSW 7 92,308,985 (GRCm39) intron probably benign
R4732:Pcf11 UTSW 7 92,308,041 (GRCm39) missense probably benign 0.33
R4733:Pcf11 UTSW 7 92,308,041 (GRCm39) missense probably benign 0.33
R4758:Pcf11 UTSW 7 92,310,383 (GRCm39) missense probably damaging 0.97
R4985:Pcf11 UTSW 7 92,311,110 (GRCm39) missense probably benign 0.01
R5041:Pcf11 UTSW 7 92,307,613 (GRCm39) missense probably benign 0.00
R5248:Pcf11 UTSW 7 92,310,699 (GRCm39) missense probably damaging 1.00
R5688:Pcf11 UTSW 7 92,308,016 (GRCm39) missense possibly damaging 0.92
R5814:Pcf11 UTSW 7 92,306,922 (GRCm39) missense probably benign 0.00
R6240:Pcf11 UTSW 7 92,295,710 (GRCm39) missense probably damaging 1.00
R6327:Pcf11 UTSW 7 92,308,817 (GRCm39) intron probably benign
R6615:Pcf11 UTSW 7 92,307,090 (GRCm39) missense probably damaging 0.96
R6795:Pcf11 UTSW 7 92,306,786 (GRCm39) missense probably benign 0.04
R6896:Pcf11 UTSW 7 92,298,759 (GRCm39) missense probably damaging 0.99
R6902:Pcf11 UTSW 7 92,307,507 (GRCm39) missense probably damaging 0.99
R7030:Pcf11 UTSW 7 92,306,886 (GRCm39) missense probably benign 0.21
R7135:Pcf11 UTSW 7 92,306,524 (GRCm39) missense probably benign 0.05
R7162:Pcf11 UTSW 7 92,313,221 (GRCm39) missense probably damaging 0.97
R7210:Pcf11 UTSW 7 92,312,684 (GRCm39) missense probably benign
R7243:Pcf11 UTSW 7 92,309,268 (GRCm39) missense probably damaging 1.00
R7362:Pcf11 UTSW 7 92,302,453 (GRCm39) missense possibly damaging 0.83
R7876:Pcf11 UTSW 7 92,310,534 (GRCm39) missense probably damaging 1.00
R8208:Pcf11 UTSW 7 92,298,731 (GRCm39) missense probably damaging 1.00
R8212:Pcf11 UTSW 7 92,308,706 (GRCm39) missense probably damaging 0.97
R8515:Pcf11 UTSW 7 92,307,998 (GRCm39) missense possibly damaging 0.92
R8534:Pcf11 UTSW 7 92,302,432 (GRCm39) missense probably benign 0.00
R8907:Pcf11 UTSW 7 92,302,451 (GRCm39) missense probably benign 0.00
R9307:Pcf11 UTSW 7 92,306,534 (GRCm39) missense possibly damaging 0.81
R9585:Pcf11 UTSW 7 92,311,006 (GRCm39) missense probably benign 0.01
R9648:Pcf11 UTSW 7 92,307,318 (GRCm39) missense probably damaging 0.99
R9780:Pcf11 UTSW 7 92,313,313 (GRCm39) missense possibly damaging 0.63
R9781:Pcf11 UTSW 7 92,297,228 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GCTGGTGTTGTGGCCCATCAAATC -3'
(R):5'- TTGAAGGACATCGTGGTCAACCTG -3'

Sequencing Primer
(F):5'- GTGGCCCATCAAATCTTTGAG -3'
(R):5'- TCCATCAGGGGCTGCAATTAG -3'
Posted On 2013-05-23