Incidental Mutation 'R6327:Pcf11'
ID 510472
Institutional Source Beutler Lab
Gene Symbol Pcf11
Ensembl Gene ENSMUSG00000041328
Gene Name PCF11 cleavage and polyadenylation factor subunit
Synonyms 5730417B17Rik, 2500001H09Rik
MMRRC Submission 044481-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R6327 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 92292751-92319142 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 92308817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119954]
AlphaFold G3X9Z4
Predicted Effect probably benign
Transcript: ENSMUST00000119954
SMART Domains Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328

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: T552A
SMART Domains Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: T552A

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 0.0649 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,535,655 (GRCm39) probably null Het
Birc6 C A 17: 74,969,774 (GRCm39) H383Q probably damaging Het
C2 C A 17: 35,083,079 (GRCm39) A431S probably benign Het
C3ar1 C T 6: 122,827,105 (GRCm39) V371M probably damaging Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Ckap2l A G 2: 129,127,414 (GRCm39) S255P probably damaging Het
Clca3a1 T A 3: 144,436,558 (GRCm39) I842F probably benign Het
Cmc2 G T 8: 117,620,896 (GRCm39) H28Q probably damaging Het
Col11a2 C T 17: 34,262,291 (GRCm39) P176L probably benign Het
Csmd3 T C 15: 47,744,783 (GRCm39) D1404G probably damaging Het
Dld G A 12: 31,382,190 (GRCm39) P506S probably benign Het
Dsg3 T C 18: 20,672,927 (GRCm39) M866T probably benign Het
Ehd1 T C 19: 6,348,375 (GRCm39) I451T possibly damaging Het
Fosb T C 7: 19,041,152 (GRCm39) T114A probably benign Het
Foxd4 T A 19: 24,878,198 (GRCm39) M1L possibly damaging Het
Fstl5 T A 3: 76,615,108 (GRCm39) I723N probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Hdlbp A G 1: 93,357,186 (GRCm39) S299P possibly damaging Het
Mast4 G A 13: 102,897,890 (GRCm39) R650C probably damaging Het
Micu3 A G 8: 40,819,238 (GRCm39) T306A probably benign Het
Mylk2 A G 2: 152,755,613 (GRCm39) Q259R possibly damaging Het
Nfkbiz T C 16: 55,642,325 (GRCm39) N31S probably damaging Het
Nisch A T 14: 30,893,444 (GRCm39) probably benign Het
Nudt17 T C 3: 96,615,080 (GRCm39) probably benign Het
Oprm1 A C 10: 6,780,063 (GRCm39) I242L probably damaging Het
Or13a26 T C 7: 140,284,616 (GRCm39) W151R probably damaging Het
Or14c39 T C 7: 86,343,760 (GRCm39) V32A probably benign Het
Or2y1d A C 11: 49,321,828 (GRCm39) H175P probably damaging Het
Otud6b A G 4: 14,826,496 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,519 (GRCm39) D606V probably damaging Het
Pom121l2 T C 13: 22,166,502 (GRCm39) S258P probably damaging Het
Rcsd1 T A 1: 165,483,403 (GRCm39) D196V possibly damaging Het
Sbf2 C T 7: 110,040,759 (GRCm39) R356Q probably damaging Het
Serpinf1 A G 11: 75,304,731 (GRCm39) probably null Het
Slc22a30 T G 19: 8,313,086 (GRCm39) probably benign Het
Strn4 G T 7: 16,550,384 (GRCm39) S36I probably benign Het
Taar6 A G 10: 23,861,177 (GRCm39) L123P probably damaging Het
Thbs1 G T 2: 117,943,137 (GRCm39) R5L unknown Het
Timp3 T C 10: 86,181,650 (GRCm39) Y174H probably benign Het
Trpm2 C T 10: 77,768,061 (GRCm39) V813M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vcan A T 13: 89,852,951 (GRCm39) S670T probably damaging Het
Vmn1r65 A T 7: 6,011,651 (GRCm39) N194K possibly damaging 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
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'- CCTCATGGGGTGAAAGATTCTC -3'
(R):5'- CTTGTTGTTGTGCATCAAATTCGAC -3'

Sequencing Primer
(F):5'- AGATTCTCAGCATAAGTACGACTC -3'
(R):5'- CGACAGCTATTTCAGTATCAAGAAGG -3'
Posted On 2018-04-02