Incidental Mutation 'R9585:Pcf11'
| ID |
722748 |
| 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: 0.962)
|
| Stock # |
R9585 (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 92311006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 327
(D327E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119954
AA Change: D327E
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: D327E
| 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: D118E
| 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: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
A |
3: 124,199,993 (GRCm39) |
D533V |
possibly damaging |
Het |
| 4933411K16Rik |
A |
G |
19: 42,041,352 (GRCm39) |
E161G |
probably benign |
Het |
| Abca12 |
A |
G |
1: 71,342,745 (GRCm39) |
S912P |
probably damaging |
Het |
| Abca3 |
G |
A |
17: 24,619,486 (GRCm39) |
M1196I |
probably benign |
Het |
| Adprs |
A |
T |
4: 126,211,786 (GRCm39) |
D175E |
probably benign |
Het |
| Asrgl1 |
A |
G |
19: 9,090,398 (GRCm39) |
L316P |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,734,299 (GRCm39) |
M626K |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,916,265 (GRCm39) |
N1727S |
probably damaging |
Het |
| Casp14 |
G |
A |
10: 78,549,194 (GRCm39) |
R251W |
probably damaging |
Het |
| Cfap69 |
A |
G |
5: 5,631,269 (GRCm39) |
I919T |
possibly damaging |
Het |
| Cibar2 |
T |
C |
8: 120,901,450 (GRCm39) |
E85G |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,195,341 (GRCm39) |
M254K |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,925,490 (GRCm39) |
E1009G |
probably damaging |
Het |
| Ddx25 |
A |
T |
9: 35,455,009 (GRCm39) |
Y426* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,672,057 (GRCm39) |
F207S |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fcrla |
A |
T |
1: 170,749,868 (GRCm39) |
M1K |
probably null |
Het |
| Heatr4 |
A |
T |
12: 84,014,472 (GRCm39) |
S588R |
probably damaging |
Het |
| Iglv3 |
A |
G |
16: 19,059,960 (GRCm39) |
*123Q |
probably null |
Het |
| Igsf9b |
T |
C |
9: 27,233,532 (GRCm39) |
I344T |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,661 (GRCm39) |
S99P |
probably damaging |
Het |
| Krt36 |
G |
A |
11: 99,994,892 (GRCm39) |
L227F |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,250 (GRCm39) |
S501P |
probably benign |
Het |
| Lvrn |
T |
C |
18: 47,011,411 (GRCm39) |
|
probably null |
Het |
| Myo18a |
T |
A |
11: 77,709,495 (GRCm39) |
M535K |
probably benign |
Het |
| Myocd |
T |
A |
11: 65,095,192 (GRCm39) |
S158C |
probably damaging |
Het |
| Naip6 |
A |
T |
13: 100,436,577 (GRCm39) |
C649S |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,035,901 (GRCm39) |
V59A |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,965,831 (GRCm39) |
V2942F |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,552 (GRCm39) |
T270S |
probably benign |
Het |
| Or5l14 |
T |
A |
2: 87,792,919 (GRCm39) |
T106S |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,354,438 (GRCm39) |
T18A |
probably benign |
Het |
| Per3 |
G |
T |
4: 151,097,138 (GRCm39) |
Q796K |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,060,091 (GRCm39) |
T227A |
probably benign |
Het |
| Phf11b |
G |
T |
14: 59,568,704 (GRCm39) |
P70T |
probably benign |
Het |
| Pkd1l1 |
T |
G |
11: 8,804,390 (GRCm39) |
I2184L |
|
Het |
| Polr3a |
A |
T |
14: 24,502,289 (GRCm39) |
M1288K |
probably damaging |
Het |
| Pth1r |
T |
A |
9: 110,573,847 (GRCm39) |
R3S |
probably benign |
Het |
| Ptprk |
C |
A |
10: 28,369,147 (GRCm39) |
Y706* |
probably null |
Het |
| Rmi2 |
C |
T |
16: 10,703,983 (GRCm39) |
T108I |
probably benign |
Het |
| Rrbp1 |
T |
C |
2: 143,799,479 (GRCm39) |
N1076S |
probably benign |
Het |
| Setd3 |
A |
C |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,247,915 (GRCm39) |
Y360H |
probably benign |
Het |
| Sox21 |
A |
G |
14: 118,472,993 (GRCm39) |
S19P |
possibly damaging |
Het |
| Speer4a2 |
T |
C |
5: 26,291,542 (GRCm39) |
H88R |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,249,916 (GRCm39) |
N76K |
possibly damaging |
Het |
| Sv2c |
T |
C |
13: 96,122,466 (GRCm39) |
T437A |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Vps50 |
T |
A |
6: 3,600,348 (GRCm39) |
S936T |
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 |
|
|
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 |
|
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'- CAGACAACCTCATACTTTCAGAGTC -3'
(R):5'- ATGGCTGTTAAAACTCCCCATC -3'
Sequencing Primer
(F):5'- CTTTCAGAGTCTTGATTTTTCAAGTC -3'
(R):5'- GCTGTTAAAACTCCCCATCAGGTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation