Incidental Mutation 'IGL02702:Pcf11'
ID 304155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcf11
Ensembl Gene ENSMUSG00000041328
Gene Name PCF11 cleavage and polyadenylation factor subunit
Synonyms 5730417B17Rik, 2500001H09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL02702
Quality Score
Status
Chromosome 7
Chromosomal Location 92292751-92319142 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92310826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 178 (N178K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119954]
AlphaFold G3X9Z4
Predicted Effect probably benign
Transcript: ENSMUST00000119954
AA Change: N387K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: N387K

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 possibly damaging
Transcript: ENSMUST00000151177
AA Change: N178K

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: N178K

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,815,120 (GRCm39) V337I probably benign Het
Adam11 G A 11: 102,667,864 (GRCm39) V750I probably benign Het
Alms1 T C 6: 85,576,831 (GRCm39) V129A probably benign Het
Cacna1d T A 14: 29,845,490 (GRCm39) K560* probably null Het
Cntn1 A G 15: 92,189,482 (GRCm39) probably benign Het
Cpne2 T C 8: 95,296,651 (GRCm39) V530A probably benign Het
Fbxo21 T C 5: 118,138,575 (GRCm39) L507P probably damaging Het
Fndc4 T C 5: 31,451,079 (GRCm39) K204R probably damaging Het
Gnrhr G T 5: 86,330,128 (GRCm39) N297K possibly damaging Het
Grin2b A G 6: 135,716,130 (GRCm39) F729S probably damaging Het
Hdac3 C A 18: 38,074,147 (GRCm39) R359L probably benign Het
Met T C 6: 17,534,142 (GRCm39) S662P possibly damaging Het
Mphosph9 T A 5: 124,398,052 (GRCm39) E1081D probably damaging Het
Mycbp2 T G 14: 103,457,560 (GRCm39) T1546P probably benign Het
Nlrp9a T A 7: 26,264,381 (GRCm39) M767K possibly damaging Het
Olfm5 A G 7: 103,803,564 (GRCm39) Y300H probably damaging Het
Or8b47 T A 9: 38,435,856 (GRCm39) V276D probably damaging Het
Polr3a T C 14: 24,520,945 (GRCm39) I571M probably benign Het
Ppef2 T A 5: 92,379,678 (GRCm39) R557W probably benign Het
Prelid3a T A 18: 67,606,864 (GRCm39) D85E probably damaging Het
Rb1cc1 A G 1: 6,310,247 (GRCm39) E215G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Recql4 C T 15: 76,591,485 (GRCm39) G501R probably damaging Het
Sema3e T C 5: 14,283,740 (GRCm39) probably benign Het
Shisa6 A C 11: 66,110,788 (GRCm39) L318V probably damaging Het
Slu7 T C 11: 43,329,719 (GRCm39) probably benign Het
Spink12 T C 18: 44,237,836 (GRCm39) V38A probably benign Het
Syne2 A G 12: 76,144,698 (GRCm39) D1549G probably damaging Het
Tet1 A G 10: 62,715,531 (GRCm39) V88A possibly damaging Het
Tmem200a C T 10: 25,869,501 (GRCm39) G256D probably damaging Het
Ttn G T 2: 76,714,835 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,040,750 (GRCm39) I391V probably benign Het
Zfp292 A T 4: 34,809,415 (GRCm39) L1215I probably benign Het
Zfp410 C A 12: 84,372,550 (GRCm39) N125K probably 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
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
R9781:Pcf11 UTSW 7 92,297,228 (GRCm39) missense possibly damaging 0.50
Posted On 2015-04-16