Incidental Mutation 'IGL02702:Pcf11'
ID |
304155 |
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 # |
IGL02702
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92310826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 178
(N178K)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
AlphaFold |
G3X9Z4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119954
AA Change: N387K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000113717 Gene: ENSMUSG00000041328 AA Change: N387K
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 |
possibly damaging
Transcript: ENSMUST00000151177
AA Change: N178K
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115278 Gene: ENSMUSG00000041328 AA Change: N178K
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
C |
T |
6: 88,815,120 (GRCm39) |
V337I |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,667,864 (GRCm39) |
V750I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,576,831 (GRCm39) |
V129A |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,490 (GRCm39) |
K560* |
probably null |
Het |
Cntn1 |
A |
G |
15: 92,189,482 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,296,651 (GRCm39) |
V530A |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,138,575 (GRCm39) |
L507P |
probably damaging |
Het |
Fndc4 |
T |
C |
5: 31,451,079 (GRCm39) |
K204R |
probably damaging |
Het |
Gnrhr |
G |
T |
5: 86,330,128 (GRCm39) |
N297K |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,716,130 (GRCm39) |
F729S |
probably damaging |
Het |
Hdac3 |
C |
A |
18: 38,074,147 (GRCm39) |
R359L |
probably benign |
Het |
Met |
T |
C |
6: 17,534,142 (GRCm39) |
S662P |
possibly damaging |
Het |
Mphosph9 |
T |
A |
5: 124,398,052 (GRCm39) |
E1081D |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,457,560 (GRCm39) |
T1546P |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,381 (GRCm39) |
M767K |
possibly damaging |
Het |
Olfm5 |
A |
G |
7: 103,803,564 (GRCm39) |
Y300H |
probably damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,856 (GRCm39) |
V276D |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,520,945 (GRCm39) |
I571M |
probably benign |
Het |
Ppef2 |
T |
A |
5: 92,379,678 (GRCm39) |
R557W |
probably benign |
Het |
Prelid3a |
T |
A |
18: 67,606,864 (GRCm39) |
D85E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,310,247 (GRCm39) |
E215G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Recql4 |
C |
T |
15: 76,591,485 (GRCm39) |
G501R |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,740 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
A |
C |
11: 66,110,788 (GRCm39) |
L318V |
probably damaging |
Het |
Slu7 |
T |
C |
11: 43,329,719 (GRCm39) |
|
probably benign |
Het |
Spink12 |
T |
C |
18: 44,237,836 (GRCm39) |
V38A |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,144,698 (GRCm39) |
D1549G |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,531 (GRCm39) |
V88A |
possibly damaging |
Het |
Tmem200a |
C |
T |
10: 25,869,501 (GRCm39) |
G256D |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,714,835 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,040,750 (GRCm39) |
I391V |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,809,415 (GRCm39) |
L1215I |
probably benign |
Het |
Zfp410 |
C |
A |
12: 84,372,550 (GRCm39) |
N125K |
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 |
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 |
2015-04-16 |