Incidental Mutation 'R9781:Pcf11'
ID 734050
Institutional Source Beutler Lab
Gene Symbol Pcf11
Ensembl Gene ENSMUSG00000041328
Gene Name PCF11 cleavage and polyadenylation factor subunit
Synonyms 5730417B17Rik, 2500001H09Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R9781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 92292751-92319142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92297228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1361 (D1361E)
Ref Sequence ENSEMBL: ENSMUSP00000113717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119954]
AlphaFold G3X9Z4
Predicted Effect possibly damaging
Transcript: ENSMUST00000119954
AA Change: D1361E

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: D1361E

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
SMART Domains Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: D1283E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,519,860 (GRCm39) F1386L probably benign Het
Aoc1l2 G A 6: 48,907,660 (GRCm39) S220N possibly damaging Het
Ap3d1 A C 10: 80,545,609 (GRCm39) L1040R possibly damaging Het
Bag4 T A 8: 26,259,564 (GRCm39) N212Y probably damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car12 T G 9: 66,624,844 (GRCm39) S30A probably benign Het
Ccdc14 A T 16: 34,543,984 (GRCm39) T829S possibly damaging Het
Ccn6 T A 10: 39,027,167 (GRCm39) *355L probably null Het
Cdc14a A T 3: 116,122,274 (GRCm39) I231N probably benign Het
Ceacam14 A T 7: 17,549,082 (GRCm39) I158F possibly damaging Het
Clca4a G T 3: 144,667,713 (GRCm39) S419R probably benign Het
Clec2g A G 6: 128,960,012 (GRCm39) N258D probably benign Het
Cntn5 A C 9: 10,048,686 (GRCm39) probably null Het
Col5a3 T A 9: 20,721,272 (GRCm39) S72C unknown Het
Dmbt1 G C 7: 130,639,599 (GRCm39) V46L probably benign Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnase1 T C 16: 3,857,054 (GRCm39) S204P probably benign Het
Dnhd1 A G 7: 105,352,917 (GRCm39) E2690G probably benign Het
Dst T C 1: 34,218,075 (GRCm39) L1505P probably benign Het
Dzip1 G A 14: 119,148,834 (GRCm39) L282F probably benign Het
E330034G19Rik A G 14: 24,359,528 (GRCm39) E313G unknown Het
Epc1 A T 18: 6,455,187 (GRCm39) probably null Het
Herc1 T C 9: 66,280,004 (GRCm39) M304T probably benign Het
Herc2 A T 7: 55,750,096 (GRCm39) I594F possibly damaging Het
Hivep2 T A 10: 14,005,828 (GRCm39) S809T probably benign Het
Hnrnph3 A T 10: 62,853,861 (GRCm39) M132K unknown Het
Hrnr A T 3: 93,239,696 (GRCm39) R3311S unknown Het
Jph3 T C 8: 122,457,380 (GRCm39) F7L probably damaging Het
Med13l C T 5: 118,868,032 (GRCm39) T732M possibly damaging Het
Mocos A T 18: 24,828,939 (GRCm39) H748L probably benign Het
Mrc1 A G 2: 14,249,100 (GRCm39) H212R probably benign Het
Mrc1 A T 2: 14,310,175 (GRCm39) Y812F possibly damaging Het
Mthfr T C 4: 148,132,710 (GRCm39) I296T probably damaging Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Nefh G A 11: 4,895,271 (GRCm39) T306I probably damaging Het
Nme7 C A 1: 164,155,890 (GRCm39) A30E possibly damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Pappa T A 4: 65,043,104 (GRCm39) L109Q possibly damaging Het
Pcdha2 A G 18: 37,074,102 (GRCm39) S578G probably benign Het
Pcm1 T C 8: 41,720,398 (GRCm39) S320P probably damaging Het
Pex19 T A 1: 171,956,855 (GRCm39) F105Y probably damaging Het
Pgap4 C T 4: 49,586,890 (GRCm39) V93I probably benign Het
Pggt1b A T 18: 46,392,779 (GRCm39) M124K probably damaging Het
Phkg1 T A 5: 129,895,807 (GRCm39) H148L probably damaging Het
Phlpp2 G T 8: 110,662,178 (GRCm39) R855L possibly damaging Het
Pkhd1 T A 1: 20,187,665 (GRCm39) I3548L possibly damaging Het
Plce1 T G 19: 38,513,654 (GRCm39) S318A probably damaging Het
Plcxd2 A G 16: 45,830,117 (GRCm39) W35R probably benign Het
Prl2b1 T A 13: 27,569,129 (GRCm39) E156D possibly damaging Het
Ptpn21 A G 12: 98,655,170 (GRCm39) V599A probably damaging Het
Raly T C 2: 154,699,265 (GRCm39) V23A probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rhbdl1 A G 17: 26,055,443 (GRCm39) V48A probably benign Het
Rhpn1 C T 15: 75,582,543 (GRCm39) Q212* probably null Het
Sec24b G T 3: 129,789,742 (GRCm39) P760T probably damaging Het
Septin8 C A 11: 53,422,889 (GRCm39) Q33K probably damaging Het
Serpinb6a T C 13: 34,109,346 (GRCm39) T150A probably benign Het
Shmt1 A T 11: 60,692,329 (GRCm39) H142Q probably damaging Het
Slc27a3 G A 3: 90,296,591 (GRCm39) S127L Het
Slc4a5 G A 6: 83,239,466 (GRCm39) A242T probably benign Het
Sphkap G A 1: 83,255,772 (GRCm39) T659I possibly damaging Het
Ssbp3 T C 4: 106,905,224 (GRCm39) S381P probably damaging Het
Stxbp5l C T 16: 37,165,485 (GRCm39) D78N probably benign Het
Suv39h2 G T 2: 3,463,631 (GRCm39) Q362K probably benign Het
Tcerg1 G A 18: 42,701,030 (GRCm39) R828Q probably damaging Het
Tgm2 T G 2: 157,971,321 (GRCm39) D306A probably damaging Het
Tmem79 A G 3: 88,239,931 (GRCm39) C260R possibly damaging Het
Ubn2 C A 6: 38,466,190 (GRCm39) A508E probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Wnt16 T C 6: 22,291,114 (GRCm39) F181L probably damaging Het
Zfp326 T C 5: 106,062,825 (GRCm39) F565L unknown Het
Zfp62 T A 11: 49,106,297 (GRCm39) C129* probably null 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
R0450:Pcf11 UTSW 7 92,307,039 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GCTCCAAGGAAGCTAGAAGTGTC -3'
(R):5'- GGCTCCATGTTTCACACTTAAC -3'

Sequencing Primer
(F):5'- GCTAGAAGTGTCAGATCTCATAAAGC -3'
(R):5'- GCTCCATGTTTCACACTTAACCAAAG -3'
Posted On 2022-11-14