Incidental Mutation 'R7362:Pcf11'
| ID |
571418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcf11
|
| Ensembl Gene |
ENSMUSG00000041328 |
| Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
| Synonyms |
5730417B17Rik, 2500001H09Rik |
| MMRRC Submission |
045375-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R7362 (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 G
at 92302453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1219
(L1219P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119954
AA Change: L1219P
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: L1219P
| 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: L1141P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
C |
T |
8: 13,295,534 (GRCm39) |
R193K |
probably damaging |
Het |
| Aoc1 |
G |
T |
6: 48,882,345 (GRCm39) |
V74L |
probably benign |
Het |
| Bfsp1 |
G |
C |
2: 143,668,795 (GRCm39) |
P601A |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,591 (GRCm39) |
K108T |
probably benign |
Het |
| Btbd18 |
C |
T |
2: 84,491,887 (GRCm39) |
Q23* |
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,787,864 (GRCm39) |
I227M |
unknown |
Het |
| Cd151 |
G |
A |
7: 141,049,502 (GRCm39) |
V70I |
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,780 (GRCm39) |
T36A |
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,680,211 (GRCm39) |
T380A |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,619,388 (GRCm39) |
S1829A |
possibly damaging |
Het |
| Dgat2 |
A |
T |
7: 98,803,843 (GRCm39) |
H359Q |
probably damaging |
Het |
| Dhdds |
T |
C |
4: 133,698,441 (GRCm39) |
T298A |
probably benign |
Het |
| Egfem1 |
A |
G |
3: 29,206,069 (GRCm39) |
Q102R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,223,439 (GRCm39) |
|
probably null |
Het |
| Ern1 |
T |
A |
11: 106,327,949 (GRCm39) |
D61V |
probably damaging |
Het |
| Fcamr |
G |
A |
1: 130,741,760 (GRCm39) |
R511Q |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,987,255 (GRCm39) |
V213A |
probably benign |
Het |
| Gsx2 |
A |
G |
5: 75,236,765 (GRCm39) |
D115G |
possibly damaging |
Het |
| Hoxd3 |
A |
G |
2: 74,574,563 (GRCm39) |
I70V |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,158,296 (GRCm39) |
I408V |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,383,208 (GRCm39) |
D759E |
possibly damaging |
Het |
| Lrrc37a |
T |
G |
11: 103,348,335 (GRCm39) |
T2787P |
unknown |
Het |
| Mier3 |
G |
A |
13: 111,841,783 (GRCm39) |
G115S |
possibly damaging |
Het |
| Mkln1 |
T |
C |
6: 31,445,103 (GRCm39) |
I333T |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,439,033 (GRCm39) |
V227D |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,412 (GRCm39) |
F28L |
probably benign |
Het |
| Or52s1 |
T |
A |
7: 102,861,861 (GRCm39) |
Y265N |
probably damaging |
Het |
| Or7e171-ps1 |
C |
T |
9: 19,853,527 (GRCm39) |
D70N |
probably damaging |
Het |
| Pde6g |
T |
C |
11: 120,338,950 (GRCm39) |
E80G |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,573,719 (GRCm39) |
Q304L |
probably benign |
Het |
| Prr19 |
T |
C |
7: 25,003,343 (GRCm39) |
L319P |
probably damaging |
Het |
| Prss23 |
C |
T |
7: 89,158,972 (GRCm39) |
A366T |
probably damaging |
Het |
| Rock2 |
T |
C |
12: 17,008,422 (GRCm39) |
L560P |
probably damaging |
Het |
| Simc1 |
A |
T |
13: 54,687,517 (GRCm39) |
R95S |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,776,992 (GRCm39) |
V36E |
probably damaging |
Het |
| Slco1c1 |
A |
T |
6: 141,515,189 (GRCm39) |
T695S |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,128,831 (GRCm39) |
Q1393L |
possibly damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,476 (GRCm39) |
F543L |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,907,910 (GRCm39) |
V999D |
possibly damaging |
Het |
| Tnfsf10 |
A |
T |
3: 27,389,497 (GRCm39) |
Y186F |
probably damaging |
Het |
| Tnk2 |
A |
T |
16: 32,494,338 (GRCm39) |
|
probably null |
Het |
| Tram1 |
T |
C |
1: 13,659,832 (GRCm39) |
M39V |
probably benign |
Het |
| Uck2 |
C |
T |
1: 167,065,211 (GRCm39) |
V36I |
possibly damaging |
Het |
| Ugcg |
T |
A |
4: 59,217,109 (GRCm39) |
M211K |
probably damaging |
Het |
| Vash2 |
A |
T |
1: 190,692,496 (GRCm39) |
S226R |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,841 (GRCm39) |
M242K |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,451 (GRCm39) |
M817L |
probably benign |
Het |
| Vwa5b1 |
T |
C |
4: 138,321,623 (GRCm39) |
N390S |
probably damaging |
Het |
| Wdr73 |
T |
A |
7: 80,550,451 (GRCm39) |
D17V |
probably damaging |
Het |
| Wdr91 |
A |
T |
6: 34,866,050 (GRCm39) |
S501T |
possibly damaging |
Het |
| Zfp454 |
A |
G |
11: 50,777,194 (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 |
|
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 |
|
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'- TCAGAGGAAACACTTTAGCCAG -3'
(R):5'- AAGGAAGTCTCCCCTCATTATTC -3'
Sequencing Primer
(F):5'- ACAAACTCTCAAAAATGCCATTTTC -3'
(R):5'- CTGAAACTCTCTCTGTAGACCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation