Incidental Mutation 'R8208:Pcf11'
ID |
636011 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcf11
|
Ensembl Gene |
ENSMUSG00000041328 |
Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
Synonyms |
5730417B17Rik, 2500001H09Rik |
MMRRC Submission |
067631-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R8208 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 92298731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1268
(N1268K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
AlphaFold |
G3X9Z4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119954
AA Change: N1268K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113717 Gene: ENSMUSG00000041328 AA Change: N1268K
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 |
|
SMART Domains |
Protein: ENSMUSP00000115278 Gene: ENSMUSG00000041328 AA Change: N1190K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (47/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Folh1 |
A |
T |
7: 86,375,125 (GRCm39) |
H620Q |
probably damaging |
Het |
Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
Hcn2 |
T |
A |
10: 79,566,778 (GRCm39) |
M485K |
possibly damaging |
Het |
Hirip3 |
G |
T |
7: 126,463,595 (GRCm39) |
C494F |
probably damaging |
Het |
Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
Snd1 |
C |
T |
6: 28,526,054 (GRCm39) |
P144L |
possibly damaging |
Het |
Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- GCCAGGAGGATAGTTCAATCTTTTG -3'
(R):5'- AGGCTTATTGTTCTTTGAATCCTGC -3'
Sequencing Primer
(F):5'- CACACTTGTTTTTCAAAAGACACC -3'
(R):5'- AAATAAGGCGGTCTTCCC -3'
|
Posted On |
2020-07-13 |