Incidental Mutation 'R1389:Paf1'
ID |
162529 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Paf1
|
Ensembl Gene |
ENSMUSG00000003437 |
Gene Name |
Paf1, RNA polymerase II complex component |
Synonyms |
5730511K23Rik |
MMRRC Submission |
039451-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1389 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28092376-28098813 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 28098257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147037
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208126]
[ENSMUST00000208199]
|
AlphaFold |
Q8K2T8 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003529
AA Change: E397G
|
SMART Domains |
Protein: ENSMUSP00000003529 Gene: ENSMUSG00000003437 AA Change: E397G
Domain | Start | End | E-Value | Type |
Pfam:Paf1
|
28 |
441 |
2.3e-154 |
PFAM |
low complexity region
|
456 |
470 |
N/A |
INTRINSIC |
low complexity region
|
476 |
511 |
N/A |
INTRINSIC |
low complexity region
|
514 |
535 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
|
SMART Domains |
Protein: ENSMUSP00000040486 Gene: ENSMUSG00000109336
Domain | Start | End | E-Value | Type |
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
SAM
|
296 |
359 |
1.02e-9 |
SMART |
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
low complexity region
|
433 |
461 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122857
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132910
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143201
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146886
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152512
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208126
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208199
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154823
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the polymerase associated factor (PAF1) complex. The PAF1 complex interacts with RNA polymerase II and plays a role in transcription elongation as well as histone modifications including ubiquitylation and methylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
A |
G |
10: 85,476,460 (GRCm39) |
T914A |
possibly damaging |
Het |
Acsl3 |
A |
C |
1: 78,665,999 (GRCm39) |
I142L |
probably benign |
Het |
Adgra2 |
C |
T |
8: 27,601,116 (GRCm39) |
P252L |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,186,303 (GRCm39) |
E1239G |
probably benign |
Het |
Arhgef17 |
TGGAGGAGGAGGAGGAGG |
TGGAGGAGGAGGAGG |
7: 100,580,244 (GRCm39) |
|
probably benign |
Het |
Calml4 |
A |
T |
9: 62,778,548 (GRCm39) |
D12V |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccar2 |
C |
A |
14: 70,377,558 (GRCm39) |
V699L |
possibly damaging |
Het |
Ccdc27 |
T |
C |
4: 154,126,226 (GRCm39) |
M88V |
unknown |
Het |
Ceacam15 |
T |
C |
7: 16,405,988 (GRCm39) |
R188G |
probably damaging |
Het |
Dcaf8 |
G |
A |
1: 172,001,619 (GRCm39) |
R272H |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,404,778 (GRCm39) |
V2588A |
probably benign |
Het |
Dst |
G |
A |
1: 34,250,313 (GRCm39) |
R1749H |
probably damaging |
Het |
Exog |
A |
G |
9: 119,291,572 (GRCm39) |
Q283R |
probably benign |
Het |
Fmnl1 |
A |
T |
11: 103,077,535 (GRCm39) |
|
probably null |
Het |
Gramd1c |
T |
C |
16: 43,811,085 (GRCm39) |
D213G |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,409,504 (GRCm39) |
|
probably null |
Het |
Itgae |
A |
G |
11: 73,016,188 (GRCm39) |
Y799C |
probably damaging |
Het |
Kalrn |
T |
C |
16: 33,809,173 (GRCm39) |
I903V |
probably benign |
Het |
Kcnh1 |
A |
G |
1: 192,188,071 (GRCm39) |
E844G |
probably benign |
Het |
Khdc1a |
A |
T |
1: 21,420,251 (GRCm39) |
D3V |
probably damaging |
Het |
Ly6g |
T |
C |
15: 75,028,615 (GRCm39) |
F25S |
probably benign |
Het |
Mapk1ip1 |
G |
A |
7: 138,438,456 (GRCm39) |
|
probably benign |
Het |
Mfsd3 |
A |
G |
15: 76,586,889 (GRCm39) |
H243R |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,591,076 (GRCm39) |
Y1016N |
probably damaging |
Het |
Mrgprb5 |
A |
T |
7: 47,818,078 (GRCm39) |
V219E |
probably damaging |
Het |
Nars2 |
G |
A |
7: 96,652,036 (GRCm39) |
S209N |
probably benign |
Het |
Nckap5 |
T |
C |
1: 125,954,447 (GRCm39) |
T702A |
probably damaging |
Het |
Or1e26 |
T |
C |
11: 73,480,369 (GRCm39) |
N65S |
possibly damaging |
Het |
Prl3d1 |
A |
T |
13: 27,282,693 (GRCm39) |
R145* |
probably null |
Het |
Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
Rnf13 |
T |
A |
3: 57,686,917 (GRCm39) |
N103K |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,973,734 (GRCm39) |
S170G |
probably benign |
Het |
Slc46a2 |
A |
G |
4: 59,914,620 (GRCm39) |
L101P |
probably damaging |
Het |
Tmem123 |
C |
T |
9: 7,791,107 (GRCm39) |
T136M |
probably damaging |
Het |
Tpo |
T |
A |
12: 30,153,109 (GRCm39) |
H415L |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,100,950 (GRCm39) |
I255V |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,561,541 (GRCm39) |
V310E |
probably damaging |
Het |
Zfp3 |
T |
A |
11: 70,663,462 (GRCm39) |
C474S |
probably damaging |
Het |
Zfp707 |
T |
A |
15: 75,846,465 (GRCm39) |
C99S |
probably damaging |
Het |
Zranb1 |
C |
T |
7: 132,573,062 (GRCm39) |
P410S |
probably damaging |
Het |
Zswim8 |
G |
T |
14: 20,760,816 (GRCm39) |
R30L |
probably damaging |
Het |
|
Other mutations in Paf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02117:Paf1
|
APN |
7 |
28,098,115 (GRCm39) |
unclassified |
probably benign |
|
IGL02583:Paf1
|
APN |
7 |
28,095,596 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02965:Paf1
|
APN |
7 |
28,095,629 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03117:Paf1
|
APN |
7 |
28,094,481 (GRCm39) |
missense |
possibly damaging |
0.92 |
K3955:Paf1
|
UTSW |
7 |
28,096,350 (GRCm39) |
splice site |
probably null |
|
P0038:Paf1
|
UTSW |
7 |
28,096,350 (GRCm39) |
splice site |
probably null |
|
R0445:Paf1
|
UTSW |
7 |
28,095,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R1808:Paf1
|
UTSW |
7 |
28,096,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Paf1
|
UTSW |
7 |
28,095,193 (GRCm39) |
splice site |
probably null |
|
R5213:Paf1
|
UTSW |
7 |
28,095,397 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5413:Paf1
|
UTSW |
7 |
28,096,040 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5419:Paf1
|
UTSW |
7 |
28,095,095 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5795:Paf1
|
UTSW |
7 |
28,096,043 (GRCm39) |
missense |
probably damaging |
0.97 |
R7378:Paf1
|
UTSW |
7 |
28,096,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R7502:Paf1
|
UTSW |
7 |
28,095,293 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7629:Paf1
|
UTSW |
7 |
28,094,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7896:Paf1
|
UTSW |
7 |
28,096,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R9013:Paf1
|
UTSW |
7 |
28,098,133 (GRCm39) |
missense |
unknown |
|
R9430:Paf1
|
UTSW |
7 |
28,096,331 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGGTTTCAGGAGGCACGAAAG -3'
(R):5'- CAATCACTGTCACTGTCAGCCTCAC -3'
Sequencing Primer
(F):5'- AGGCACGAAAGGCCCAG -3'
(R):5'- GTCAGCCTCACTGGAATCAGAG -3'
|
Posted On |
2014-03-17 |