Incidental Mutation 'R0450:Pcf11'
ID |
39600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcf11
|
Ensembl Gene |
ENSMUSG00000041328 |
Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
Synonyms |
5730417B17Rik, 2500001H09Rik |
MMRRC Submission |
038650-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R0450 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92307039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1043
(P1043L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
AlphaFold |
G3X9Z4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119954
AA Change: P1043L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113717 Gene: ENSMUSG00000041328 AA Change: P1043L
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: P965L
|
SMART Domains |
Protein: ENSMUSP00000115278 Gene: ENSMUSG00000041328 AA Change: P965L
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 |
0.0857 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 94.2%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
AI606181 |
A |
C |
19: 41,582,170 (GRCm39) |
K113N |
unknown |
Het |
Ankrd11 |
T |
C |
8: 123,618,914 (GRCm39) |
D1646G |
possibly damaging |
Het |
Ap2m1 |
T |
A |
16: 20,360,990 (GRCm39) |
I334N |
possibly damaging |
Het |
Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
Cdhr1 |
T |
C |
14: 36,802,633 (GRCm39) |
Y610C |
probably damaging |
Het |
Cdkal1 |
C |
A |
13: 29,875,579 (GRCm39) |
|
probably null |
Het |
Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,619,112 (GRCm39) |
Y676N |
probably damaging |
Het |
Cog2 |
T |
C |
8: 125,255,797 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,806,537 (GRCm39) |
V446A |
probably damaging |
Het |
Dync1h1 |
C |
A |
12: 110,606,378 (GRCm39) |
Q2483K |
probably benign |
Het |
Enpp3 |
A |
T |
10: 24,652,679 (GRCm39) |
D759E |
probably damaging |
Het |
Etfbkmt |
C |
T |
6: 149,052,082 (GRCm39) |
R96W |
probably benign |
Het |
Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
Glipr1l2 |
A |
G |
10: 111,928,477 (GRCm39) |
D124G |
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,319,477 (GRCm39) |
T188A |
possibly damaging |
Het |
Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
Mbl1 |
A |
G |
14: 40,880,706 (GRCm39) |
N198S |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,047,337 (GRCm39) |
D233G |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,517,700 (GRCm39) |
K45E |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
Mospd3 |
A |
G |
5: 137,595,294 (GRCm39) |
L233P |
probably damaging |
Het |
Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
Or5p5 |
T |
C |
7: 107,413,895 (GRCm39) |
Y35H |
probably damaging |
Het |
Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
Or8g27 |
G |
A |
9: 39,129,024 (GRCm39) |
V124I |
possibly damaging |
Het |
Parp2 |
T |
A |
14: 51,057,130 (GRCm39) |
Y361N |
probably damaging |
Het |
Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
Plcl2 |
T |
C |
17: 50,915,010 (GRCm39) |
L673P |
probably damaging |
Het |
Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
Rem2 |
T |
C |
14: 54,713,754 (GRCm39) |
|
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,472,449 (GRCm39) |
V108A |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
Ubr4 |
T |
G |
4: 139,157,534 (GRCm39) |
S2364A |
probably benign |
Het |
Unc79 |
T |
A |
12: 103,045,329 (GRCm39) |
|
probably null |
Het |
Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
Usp47 |
T |
C |
7: 111,655,787 (GRCm39) |
S155P |
possibly damaging |
Het |
Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,739,253 (GRCm39) |
V1004E |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGGTGTTGTGGCCCATCAAATC -3'
(R):5'- TTGAAGGACATCGTGGTCAACCTG -3'
Sequencing Primer
(F):5'- GTGGCCCATCAAATCTTTGAG -3'
(R):5'- TCCATCAGGGGCTGCAATTAG -3'
|
Posted On |
2013-05-23 |