Incidental Mutation 'R4985:Pcf11'
| ID |
385822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcf11
|
| Ensembl Gene |
ENSMUSG00000041328 |
| Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
| Synonyms |
5730417B17Rik, 2500001H09Rik |
| MMRRC Submission |
042579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R4985 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92311110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 293
(T293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119954
AA Change: T293A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: T293A
| 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: T84A
|
| SMART Domains |
Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: T84A
| 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 |
0.0591 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921508M14Rik |
A |
T |
12: 34,924,457 (GRCm39) |
|
probably benign |
Het |
| Actn4 |
A |
G |
7: 28,618,411 (GRCm39) |
L83P |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,276,376 (GRCm39) |
R331G |
possibly damaging |
Het |
| Bmal1 |
T |
C |
7: 112,884,280 (GRCm39) |
V106A |
probably damaging |
Het |
| Brf1 |
G |
T |
12: 112,932,990 (GRCm39) |
|
probably null |
Het |
| Cd248 |
C |
T |
19: 5,119,820 (GRCm39) |
T556I |
probably damaging |
Het |
| Cdkn2aip |
G |
T |
8: 48,166,480 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,901,772 (GRCm39) |
E399G |
possibly damaging |
Het |
| Col9a3 |
G |
A |
2: 180,245,193 (GRCm39) |
R134H |
unknown |
Het |
| Ddb2 |
T |
C |
2: 91,042,643 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
A |
G |
16: 31,606,953 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
G |
14: 31,008,855 (GRCm39) |
E1973A |
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,691,017 (GRCm39) |
T284A |
probably benign |
Het |
| Ecm1 |
C |
T |
3: 95,643,415 (GRCm39) |
R295H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,029,055 (GRCm39) |
H92L |
probably damaging |
Het |
| Egfr |
C |
A |
11: 16,809,029 (GRCm39) |
Y74* |
probably null |
Het |
| Fbxo10 |
T |
C |
4: 45,040,692 (GRCm39) |
I838V |
probably benign |
Het |
| Gfod2 |
C |
T |
8: 106,454,643 (GRCm39) |
R79Q |
probably damaging |
Het |
| Gm11568 |
C |
A |
11: 99,749,274 (GRCm39) |
P160T |
unknown |
Het |
| Gm29106 |
A |
T |
1: 118,126,950 (GRCm39) |
D214V |
probably benign |
Het |
| Htr3b |
C |
A |
9: 48,847,241 (GRCm39) |
V425F |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,146 (GRCm39) |
E347V |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,012,551 (GRCm39) |
I708V |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,645 (GRCm39) |
K221I |
probably damaging |
Het |
| Lmntd2 |
A |
C |
7: 140,793,190 (GRCm39) |
S127R |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,234,743 (GRCm39) |
|
probably null |
Het |
| Mettl26 |
T |
A |
17: 26,095,750 (GRCm39) |
*202R |
probably null |
Het |
| Mmp24 |
A |
G |
2: 155,656,016 (GRCm39) |
K485E |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,325,944 (GRCm39) |
C88R |
probably benign |
Het |
| Or2d2 |
C |
A |
7: 106,728,234 (GRCm39) |
R122L |
probably damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,658 (GRCm39) |
I47N |
possibly damaging |
Het |
| Pafah1b1 |
T |
G |
11: 74,576,814 (GRCm39) |
D159A |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,698 (GRCm39) |
V235A |
probably benign |
Het |
| Pidd1 |
A |
C |
7: 141,018,504 (GRCm39) |
*916E |
probably null |
Het |
| Pip4k2c |
T |
C |
10: 127,035,244 (GRCm39) |
I375V |
probably benign |
Het |
| Pou3f2 |
A |
T |
4: 22,487,588 (GRCm39) |
S182T |
probably benign |
Het |
| Rin3 |
A |
T |
12: 102,334,821 (GRCm39) |
D164V |
unknown |
Het |
| Rnf8 |
T |
C |
17: 29,845,834 (GRCm39) |
S199P |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,195 (GRCm39) |
S185P |
probably benign |
Het |
| Slc47a2 |
C |
A |
11: 61,193,059 (GRCm39) |
V565L |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,078,033 (GRCm39) |
F274I |
probably damaging |
Het |
| Tgif1 |
T |
C |
17: 71,151,867 (GRCm39) |
Y248C |
probably benign |
Het |
| Tlx1 |
C |
A |
19: 45,139,421 (GRCm39) |
Q23K |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Tspyl1 |
G |
A |
10: 34,158,334 (GRCm39) |
D20N |
probably benign |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,959 (GRCm39) |
F24L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,741,230 (GRCm39) |
V287D |
probably damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,340,228 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
T |
G |
8: 123,994,646 (GRCm39) |
V571G |
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 |
|
|
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 |
|
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'- GACAACCTCATACTTTCAGAGTCTTG -3'
(R):5'- TCAGGCAGTATCTCTGAGTGTTC -3'
Sequencing Primer
(F):5'- ATCTAACTGGTCAAGTTCTTTCTTGG -3'
(R):5'- TGTTCAGCAGGAAACAGCC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation