Incidental Mutation 'IGL01160:Pcf11'
| ID |
53639 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcf11
|
| Ensembl Gene |
ENSMUSG00000041328 |
| Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
| Synonyms |
5730417B17Rik, 2500001H09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
IGL01160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92310894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 365
(S365P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119954
AA Change: S365P
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: S365P
| 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: S156P
|
| SMART Domains |
Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: S156P
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11a |
A |
G |
8: 12,894,609 (GRCm39) |
T188A |
probably damaging |
Het |
| Bfsp2 |
A |
G |
9: 103,357,367 (GRCm39) |
V20A |
probably benign |
Het |
| Btn1a1 |
G |
A |
13: 23,645,907 (GRCm39) |
T154M |
possibly damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,481,532 (GRCm39) |
S200G |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,213,468 (GRCm39) |
G1358S |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,705,436 (GRCm39) |
T40A |
possibly damaging |
Het |
| Cstf2 |
T |
A |
X: 132,961,478 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,303,312 (GRCm39) |
D281G |
probably benign |
Het |
| Dmd |
T |
C |
X: 82,968,567 (GRCm39) |
L1855P |
probably damaging |
Het |
| Dnajc5g |
T |
C |
5: 31,267,529 (GRCm39) |
V112A |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,828,615 (GRCm39) |
P828S |
possibly damaging |
Het |
| Dock3 |
A |
T |
9: 106,783,887 (GRCm39) |
S268R |
probably damaging |
Het |
| Dpep2 |
C |
T |
8: 106,713,076 (GRCm39) |
V440M |
possibly damaging |
Het |
| F8 |
A |
T |
X: 74,331,667 (GRCm39) |
M741K |
probably damaging |
Het |
| Fermt3 |
C |
T |
19: 6,980,626 (GRCm39) |
|
probably null |
Het |
| Fosb |
A |
G |
7: 19,041,039 (GRCm39) |
|
probably null |
Het |
| Gm3238 |
C |
A |
10: 77,606,717 (GRCm39) |
|
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,480 (GRCm39) |
S118T |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,923,662 (GRCm39) |
D1140G |
possibly damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,326,750 (GRCm39) |
|
probably benign |
Het |
| Irf3 |
C |
A |
7: 44,648,220 (GRCm39) |
D28E |
possibly damaging |
Het |
| Ly6i |
A |
T |
15: 74,851,881 (GRCm39) |
I96N |
possibly damaging |
Het |
| Macrod2 |
T |
C |
2: 140,666,962 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,941 (GRCm39) |
R302G |
probably benign |
Het |
| Or4c117 |
A |
T |
2: 88,956,072 (GRCm39) |
M1K |
probably null |
Het |
| Or4f15 |
A |
G |
2: 111,814,278 (GRCm39) |
L47P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,843 (GRCm39) |
G214R |
probably damaging |
Het |
| Otof |
A |
T |
5: 30,538,879 (GRCm39) |
M1128K |
probably benign |
Het |
| Parp9 |
A |
T |
16: 35,768,368 (GRCm39) |
I183F |
probably damaging |
Het |
| Pbsn |
T |
C |
X: 76,886,177 (GRCm39) |
N147S |
probably benign |
Het |
| Pcnx4 |
T |
G |
12: 72,626,151 (GRCm39) |
V1119G |
probably damaging |
Het |
| Qng1 |
A |
G |
13: 58,529,790 (GRCm39) |
V274A |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,334,791 (GRCm39) |
T1308M |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,024 (GRCm39) |
L647P |
probably damaging |
Het |
| Slc28a2b |
A |
C |
2: 122,355,277 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
A |
G |
14: 54,972,581 (GRCm39) |
V280A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,029,177 (GRCm39) |
F323I |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,420,589 (GRCm39) |
D70E |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,678,517 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Tmco5b |
G |
T |
2: 113,118,143 (GRCm39) |
|
probably benign |
Het |
| Trav10 |
G |
A |
14: 53,743,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
A |
T |
7: 5,489,477 (GRCm39) |
M454K |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Yipf7 |
T |
C |
5: 69,676,660 (GRCm39) |
I160V |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,134,989 (GRCm39) |
|
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,539,132 (GRCm39) |
S91L |
probably damaging |
Het |
|
| Other mutations in Pcf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation