Incidental Mutation 'R0015:Pcf11'
| ID |
64898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcf11
|
| Ensembl Gene |
ENSMUSG00000041328 |
| Gene Name |
PCF11 cleavage and polyadenylation factor subunit |
| Synonyms |
5730417B17Rik, 2500001H09Rik |
| MMRRC Submission |
038310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R0015 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92292751-92319142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92307525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 881
(H881L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119954]
|
| AlphaFold |
G3X9Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119954
AA Change: H881L
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: H881L
| 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: H803L
|
| SMART Domains |
Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: H803L
| 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 |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
97% (71/73) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
| Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
G |
A |
12: 84,488,554 (GRCm39) |
L86F |
probably damaging |
Het |
| Arl10 |
G |
T |
13: 54,723,770 (GRCm39) |
|
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
| Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
| Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
| Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
| Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
| Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
| Eps8l1 |
A |
T |
7: 4,480,556 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,223,609 (GRCm39) |
T188A |
possibly damaging |
Het |
| F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Gls2 |
T |
G |
10: 128,045,219 (GRCm39) |
L572R |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,184,196 (GRCm39) |
E281D |
probably benign |
Het |
| Gpr35 |
T |
G |
1: 92,910,954 (GRCm39) |
L222W |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
| Id2 |
C |
T |
12: 25,145,802 (GRCm39) |
D70N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
| Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
| Klhdc8a |
A |
G |
1: 132,230,743 (GRCm39) |
T203A |
probably damaging |
Het |
| Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
| Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
| Lifr |
T |
A |
15: 7,217,667 (GRCm39) |
|
probably null |
Het |
| Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,838,175 (GRCm39) |
V48A |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,063 (GRCm39) |
I67T |
possibly damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,154 (GRCm39) |
D93V |
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,699,057 (GRCm39) |
|
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,580,037 (GRCm39) |
E268G |
probably damaging |
Het |
| Or8b37 |
T |
A |
9: 37,958,963 (GRCm39) |
Y148* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,605,330 (GRCm39) |
|
probably null |
Het |
| Pianp |
G |
T |
6: 124,978,503 (GRCm39) |
G236V |
probably damaging |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,660 (GRCm39) |
S1085P |
possibly damaging |
Het |
| Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
| Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
C |
11: 119,332,432 (GRCm39) |
D2547A |
possibly damaging |
Het |
| Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,679,481 (GRCm39) |
S2503P |
probably benign |
Het |
| Sv2b |
A |
T |
7: 74,775,389 (GRCm39) |
F479L |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
| Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,612,284 (GRCm39) |
N307K |
probably damaging |
Het |
| Ubxn11 |
C |
G |
4: 133,843,336 (GRCm39) |
|
probably null |
Het |
| Ust |
T |
C |
10: 8,205,829 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,823 (GRCm39) |
N852K |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,349,046 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTAATTGCAGCCCCTGATGGAC -3'
(R):5'- TACAGCTCTAGCTGAAGACCGACC -3'
Sequencing Primer
(F):5'- GATGGACCATGACCCCCTTC -3'
(R):5'- GACCGACCATTATTTGATGGACC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation