Incidental Mutation 'IGL02117:Paf1'
| ID |
280437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Paf1
|
| Ensembl Gene |
ENSMUSG00000003437 |
| Gene Name |
Paf1, RNA polymerase II complex component |
| Synonyms |
5730511K23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28092376-28098813 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 28098115 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: E375G
|
| SMART Domains |
Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: E375G
| 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 |
probably benign
Transcript: ENSMUST00000207766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208126
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154823
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
A |
2: 151,315,466 (GRCm39) |
M71L |
probably benign |
Het |
| Abcb11 |
A |
G |
2: 69,154,169 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,410,645 (GRCm39) |
T249A |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,562,922 (GRCm39) |
C92* |
probably null |
Het |
| Arhgap17 |
G |
A |
7: 122,885,996 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
G |
T |
4: 133,420,126 (GRCm39) |
T992K |
unknown |
Het |
| Camk2a |
A |
G |
18: 61,111,061 (GRCm39) |
I83M |
probably damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,386,792 (GRCm39) |
|
probably null |
Het |
| Chtf18 |
T |
C |
17: 25,941,177 (GRCm39) |
H607R |
possibly damaging |
Het |
| Col25a1 |
T |
C |
3: 130,313,422 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
C |
T |
1: 24,276,574 (GRCm39) |
Q530* |
probably null |
Het |
| Cryl1 |
G |
T |
14: 57,523,904 (GRCm39) |
D219E |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,300,781 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,851,301 (GRCm39) |
R373L |
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,721,309 (GRCm39) |
Y316C |
possibly damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,187,465 (GRCm39) |
V408M |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,347,185 (GRCm39) |
S4792C |
possibly damaging |
Het |
| Hps5 |
A |
G |
7: 46,432,940 (GRCm39) |
F260S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,477 (GRCm39) |
S339P |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,405,584 (GRCm39) |
L152Q |
probably damaging |
Het |
| Marco |
A |
G |
1: 120,418,683 (GRCm39) |
V190A |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,709,364 (GRCm39) |
V1711A |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,644 (GRCm39) |
Y179C |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,742 (GRCm39) |
|
probably benign |
Het |
| Mrgprx1 |
G |
T |
7: 47,671,371 (GRCm39) |
C125* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,298,234 (GRCm39) |
|
probably benign |
Het |
| Myot |
C |
A |
18: 44,488,177 (GRCm39) |
R441S |
probably benign |
Het |
| Or11g7 |
A |
G |
14: 50,691,399 (GRCm39) |
R297G |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 75,821,606 (GRCm39) |
L891P |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,596,460 (GRCm39) |
I135N |
probably damaging |
Het |
| Rap1gap |
C |
T |
4: 137,454,355 (GRCm39) |
T646M |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,088,087 (GRCm39) |
D229G |
possibly damaging |
Het |
| Rhobtb3 |
C |
T |
13: 76,025,547 (GRCm39) |
S523N |
probably damaging |
Het |
| Setd7 |
A |
T |
3: 51,428,826 (GRCm39) |
Y335N |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,528,264 (GRCm39) |
Y400H |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,909,479 (GRCm39) |
H192L |
probably damaging |
Het |
| Ssh1 |
A |
T |
5: 114,084,541 (GRCm39) |
C566* |
probably null |
Het |
| Stap1 |
T |
G |
5: 86,234,552 (GRCm39) |
I98S |
possibly damaging |
Het |
| Tgs1 |
C |
T |
4: 3,585,836 (GRCm39) |
H238Y |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,275 (GRCm39) |
Y56C |
probably benign |
Het |
| Tssk2 |
A |
G |
16: 17,717,653 (GRCm39) |
E352G |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,874 (GRCm39) |
V625D |
probably benign |
Het |
| Wbp1l |
T |
C |
19: 46,632,876 (GRCm39) |
Y75H |
probably benign |
Het |
| Wnt5a |
T |
C |
14: 28,228,077 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Paf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1389:Paf1
|
UTSW |
7 |
28,098,257 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation