Incidental Mutation 'R4439:Pcf11'
ID |
329677 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcf11
|
Ensembl Gene |
ENSMUSG00000041328 |
Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
Synonyms |
5730417B17Rik, 2500001H09Rik |
MMRRC Submission |
041704-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4439 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 92307225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 981
(L981R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
AlphaFold |
G3X9Z4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119954
AA Change: L981R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113717 Gene: ENSMUSG00000041328 AA Change: L981R
Domain | Start | End | E-Value | Type |
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: L903R
|
SMART Domains |
Protein: ENSMUSP00000115278 Gene: ENSMUSG00000041328 AA Change: L903R
Domain | Start | End | E-Value | Type |
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 |
0.0642 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
94% (50/53) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
C |
T |
5: 114,384,557 (GRCm39) |
T2237I |
possibly damaging |
Het |
Adgre1 |
T |
A |
17: 57,754,954 (GRCm39) |
L684Q |
probably damaging |
Het |
Cfap157 |
T |
A |
2: 32,667,877 (GRCm39) |
Y488F |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,171,696 (GRCm39) |
I824T |
probably benign |
Het |
Eno2 |
T |
C |
6: 124,739,922 (GRCm39) |
|
probably benign |
Het |
Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
Garem2 |
G |
T |
5: 30,318,344 (GRCm39) |
V106L |
possibly damaging |
Het |
Grk3 |
A |
T |
5: 113,094,543 (GRCm39) |
|
probably null |
Het |
H3c2 |
A |
T |
13: 23,936,708 (GRCm39) |
|
probably null |
Het |
Hint2 |
T |
A |
4: 43,654,919 (GRCm39) |
Y70F |
probably damaging |
Het |
Ipp |
A |
G |
4: 116,372,274 (GRCm39) |
N101S |
probably benign |
Het |
Kcnj1 |
A |
T |
9: 32,305,414 (GRCm39) |
|
probably benign |
Het |
Kcnk4 |
T |
C |
19: 6,910,129 (GRCm39) |
D44G |
probably benign |
Het |
Kif5c |
T |
C |
2: 49,578,737 (GRCm39) |
S122P |
possibly damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Nipbl |
T |
A |
15: 8,368,208 (GRCm39) |
K1171N |
probably damaging |
Het |
Or4k39 |
T |
A |
2: 111,239,653 (GRCm39) |
|
noncoding transcript |
Het |
Pias2 |
T |
A |
18: 77,185,399 (GRCm39) |
L153H |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,481,750 (GRCm39) |
S68P |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,804,666 (GRCm39) |
V3130A |
probably damaging |
Het |
Plpp4 |
C |
A |
7: 128,858,813 (GRCm39) |
|
probably benign |
Het |
Plxnd1 |
T |
A |
6: 115,970,937 (GRCm39) |
H277L |
probably damaging |
Het |
Pramel26 |
A |
T |
4: 143,538,143 (GRCm39) |
V276E |
possibly damaging |
Het |
Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
Rd3l |
C |
A |
12: 111,946,092 (GRCm39) |
S63I |
possibly damaging |
Het |
Scfd2 |
G |
C |
5: 74,558,368 (GRCm39) |
A503G |
possibly damaging |
Het |
Slco4a1 |
T |
C |
2: 180,114,455 (GRCm39) |
V549A |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
Tnrc6a |
A |
T |
7: 122,751,405 (GRCm39) |
K54* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,279,712 (GRCm39) |
D206E |
probably benign |
Het |
Ugt2b34 |
A |
T |
5: 87,040,726 (GRCm39) |
F399I |
probably damaging |
Het |
Usp3 |
A |
T |
9: 66,425,776 (GRCm39) |
D456E |
probably benign |
Het |
Vmn1r60 |
T |
A |
7: 5,547,488 (GRCm39) |
H204L |
probably damaging |
Het |
Vmn2r97 |
G |
T |
17: 19,150,616 (GRCm39) |
A488S |
probably benign |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Wdr86 |
T |
C |
5: 24,935,235 (GRCm39) |
D36G |
probably damaging |
Het |
Zc3h4 |
C |
T |
7: 16,163,036 (GRCm39) |
P479S |
unknown |
Het |
Zfhx4 |
A |
T |
3: 5,279,875 (GRCm39) |
|
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,402,149 (GRCm39) |
C202S |
probably damaging |
Het |
Zfp882 |
T |
A |
8: 72,667,453 (GRCm39) |
F93L |
probably damaging |
Het |
|
Other mutations in Pcf11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- ACCTGGCTGTCCATCAAACC -3'
(R):5'- CAGCCTGTAGGAGGACTTAGATTTG -3'
Sequencing Primer
(F):5'- GGCTGTCCATCAAACCTTAAAGAGTG -3'
(R):5'- AAGGGGGTCATGGTCCATC -3'
|
Posted On |
2015-07-21 |