Incidental Mutation 'R4517:Pcf11'
ID |
332949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcf11
|
Ensembl Gene |
ENSMUSG00000041328 |
Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
Synonyms |
5730417B17Rik, 2500001H09Rik |
MMRRC Submission |
041761-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R4517 (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 92295696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1451
(Y1451C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
AlphaFold |
G3X9Z4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119954
AA Change: Y1451C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113717 Gene: ENSMUSG00000041328 AA Change: Y1451C
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 |
noncoding transcript
Transcript: ENSMUST00000148539
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151177
AA Change: Y1373C
|
SMART Domains |
Protein: ENSMUSP00000115278 Gene: ENSMUSG00000041328 AA Change: Y1373C
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 |
noncoding transcript
Transcript: ENSMUST00000182265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192772
|
Meta Mutation Damage Score |
0.2960 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
95% (39/41) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,213,272 (GRCm39) |
S707G |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGTTGCTAGAATCCCTCCAAAG -3'
(R):5'- GGTTGGATGCCATCAGTGAC -3'
Sequencing Primer
(F):5'- GTTGCTAGAATCCCTCCAAAGGAAAC -3'
(R):5'- GGATGCCATCAGTGACTAATATAGTG -3'
|
Posted On |
2015-08-18 |