Incidental Mutation 'R9780:Pcf11'
| ID |
733974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcf11
|
| Ensembl Gene |
ENSMUSG00000041328 |
| Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
| Synonyms |
5730417B17Rik, 2500001H09Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R9780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92313313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 123
(D123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
[ENSMUST00000208255]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119954
AA Change: D123E
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: D123E
| 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 |
probably benign
Transcript: ENSMUST00000151177
|
| SMART Domains |
Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208255
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,911,447 (GRCm39) |
T1344A |
probably benign |
Het |
| Actrt3 |
T |
A |
3: 30,652,876 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,482,196 (GRCm39) |
S915P |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,209,358 (GRCm39) |
F281I |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,059,102 (GRCm39) |
V148A |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,954,426 (GRCm39) |
I256T |
probably benign |
Het |
| Bloc1s3 |
G |
A |
7: 19,241,408 (GRCm39) |
S40L |
possibly damaging |
Het |
| Cep68 |
G |
A |
11: 20,192,142 (GRCm39) |
P19L |
probably benign |
Het |
| Chst9 |
T |
A |
18: 15,586,221 (GRCm39) |
Q114L |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,545,536 (GRCm39) |
F106I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,258,123 (GRCm39) |
E2123G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,756,556 (GRCm39) |
D1187G |
probably benign |
Het |
| Dhx8 |
A |
T |
11: 101,632,403 (GRCm39) |
D454V |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,766,398 (GRCm39) |
L310H |
probably damaging |
Het |
| Ergic3 |
C |
A |
2: 155,853,164 (GRCm39) |
Y202* |
probably null |
Het |
| Fam117a |
A |
T |
11: 95,268,309 (GRCm39) |
I237L |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,613,743 (GRCm39) |
M773V |
probably benign |
Het |
| Gcnt4 |
T |
A |
13: 97,083,948 (GRCm39) |
S415T |
probably benign |
Het |
| Hacl1 |
C |
A |
14: 31,362,519 (GRCm39) |
V43L |
possibly damaging |
Het |
| Hbb-bh2 |
A |
G |
7: 103,489,624 (GRCm39) |
L4P |
probably damaging |
Het |
| Hmbs |
A |
G |
9: 44,247,985 (GRCm39) |
L357P |
probably damaging |
Het |
| Hpcal1 |
A |
G |
12: 17,836,494 (GRCm39) |
Y108C |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,490,741 (GRCm39) |
M482K |
probably damaging |
Het |
| Ifi27l2b |
G |
T |
12: 103,417,461 (GRCm39) |
P242Q |
unknown |
Het |
| Insyn1 |
A |
G |
9: 58,406,881 (GRCm39) |
N264D |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,487,795 (GRCm39) |
V2407A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,440,178 (GRCm39) |
F154S |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,233 (GRCm39) |
S403P |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,360,500 (GRCm39) |
A334V |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,025,824 (GRCm39) |
T933S |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,747,253 (GRCm39) |
Y468C |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,582,342 (GRCm39) |
Y510C |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,064,613 (GRCm39) |
K235R |
|
Het |
| Nek2 |
A |
T |
1: 191,554,738 (GRCm39) |
D150V |
probably damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,898 (GRCm39) |
R205L |
possibly damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,260 (GRCm39) |
F122S |
possibly damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,931,042 (GRCm39) |
V718A |
possibly damaging |
Het |
| Oplah |
A |
G |
15: 76,181,940 (GRCm39) |
I1061T |
probably damaging |
Het |
| Or13e8 |
G |
A |
4: 43,697,193 (GRCm39) |
|
probably benign |
Het |
| Or2y16 |
G |
A |
11: 49,335,014 (GRCm39) |
C112Y |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,631 (GRCm39) |
S104P |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,426 (GRCm39) |
L198P |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,094,794 (GRCm39) |
E55K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,141,030 (GRCm39) |
V46A |
probably benign |
Het |
| Plce1 |
T |
G |
19: 38,609,134 (GRCm39) |
L481R |
possibly damaging |
Het |
| Psma7 |
A |
T |
2: 179,678,339 (GRCm39) |
Y228N |
unknown |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,796 (GRCm39) |
Y380N |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,551 (GRCm39) |
E677V |
probably damaging |
Het |
| Scgb2b11 |
A |
G |
7: 31,909,861 (GRCm39) |
L75P |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,235 (GRCm39) |
V775A |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,016,999 (GRCm39) |
D34G |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,862,591 (GRCm39) |
D430V |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,267,019 (GRCm39) |
N77K |
possibly damaging |
Het |
| Stk32a |
T |
G |
18: 43,375,049 (GRCm39) |
F20V |
probably benign |
Het |
| Taf1b |
G |
A |
12: 24,564,818 (GRCm39) |
G145D |
probably damaging |
Het |
| Tomt |
G |
C |
7: 101,549,536 (GRCm39) |
Q251E |
probably benign |
Het |
| Tsc1 |
G |
A |
2: 28,565,761 (GRCm39) |
E471K |
probably damaging |
Het |
| Ttll9 |
G |
A |
2: 152,836,023 (GRCm39) |
A256T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,774,289 (GRCm39) |
C2252S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,785,035 (GRCm39) |
D797E |
unknown |
Het |
| Usf3 |
T |
A |
16: 44,039,181 (GRCm39) |
N1220K |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,050,069 (GRCm39) |
H355Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,442 (GRCm39) |
V432E |
possibly damaging |
Het |
| Vtn |
A |
C |
11: 78,393,003 (GRCm39) |
D456A |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,945,359 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfhx2 |
C |
A |
14: 55,312,494 (GRCm39) |
D67Y |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 67,665,241 (GRCm39) |
H407R |
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 |
|
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 |
|
R9781:Pcf11
|
UTSW |
7 |
92,297,228 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGTTGAAGGCTCATCAG -3'
(R):5'- GTTAACTTTAGTGATCAAACCTGCC -3'
Sequencing Primer
(F):5'- TTATCTAGAACTGCCAAAGGTCAAC -3'
(R):5'- GTGATCAAACCTGCCTTTAATAAGTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation