Incidental Mutation 'IGL02583:Paf1'
| ID |
299419 |
| 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 # |
IGL02583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28092376-28098813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28095596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 202
(V202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000003536]
[ENSMUST00000040531]
[ENSMUST00000208199]
|
| AlphaFold |
Q8K2T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003529
AA Change: V202A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: V202A
| 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: ENSMUST00000003536
|
| SMART Domains |
Protein: ENSMUSP00000003536
Gene: ENSMUSG00000003444
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Med29
|
51 |
186 |
7.3e-57 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000208199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152512
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930584F24Rik |
C |
T |
5: 26,684,717 (GRCm39) |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 154,045,392 (GRCm39) |
D140E |
possibly damaging |
Het |
| Bod1l |
C |
T |
5: 41,973,550 (GRCm39) |
|
probably null |
Het |
| Brms1 |
T |
A |
19: 5,096,206 (GRCm39) |
V61D |
probably damaging |
Het |
| Card11 |
A |
T |
5: 140,863,881 (GRCm39) |
N952K |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cimap2 |
A |
T |
4: 106,468,602 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,279,866 (GRCm39) |
V697A |
probably benign |
Het |
| Col7a1 |
A |
T |
9: 108,791,297 (GRCm39) |
I1118F |
unknown |
Het |
| Cyfip2 |
T |
C |
11: 46,140,585 (GRCm39) |
E746G |
possibly damaging |
Het |
| Dach1 |
A |
G |
14: 98,065,830 (GRCm39) |
|
probably benign |
Het |
| Dock11 |
G |
T |
X: 35,270,370 (GRCm39) |
G1023W |
possibly damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,044,754 (GRCm39) |
D453G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,738,955 (GRCm39) |
|
probably benign |
Het |
| Gm17415 |
A |
G |
1: 93,349,801 (GRCm39) |
|
probably benign |
Het |
| Gm4781 |
A |
T |
10: 100,232,507 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2 |
A |
C |
1: 186,965,514 (GRCm39) |
|
probably null |
Het |
| Gpatch2 |
G |
T |
1: 186,965,515 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,756,296 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,542,362 (GRCm39) |
Y1319C |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,753,854 (GRCm39) |
R744H |
possibly damaging |
Het |
| Kcnq2 |
T |
A |
2: 180,723,295 (GRCm39) |
S694C |
probably benign |
Het |
| Krt35 |
C |
A |
11: 99,983,360 (GRCm39) |
V448L |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,171,360 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,055,218 (GRCm39) |
S1984P |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,014,227 (GRCm39) |
Q341R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,330 (GRCm39) |
L286Q |
probably damaging |
Het |
| Or51a6 |
T |
C |
7: 102,603,918 (GRCm39) |
T297A |
possibly damaging |
Het |
| Osr1 |
C |
T |
12: 9,629,675 (GRCm39) |
H183Y |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,200,462 (GRCm39) |
K1071E |
probably benign |
Het |
| Pwp2 |
T |
C |
10: 78,016,917 (GRCm39) |
R268G |
probably benign |
Het |
| Rwdd1 |
T |
A |
10: 33,877,669 (GRCm39) |
K178* |
probably null |
Het |
| Scn10a |
A |
T |
9: 119,520,506 (GRCm39) |
|
probably benign |
Het |
| Sema3g |
A |
G |
14: 30,943,476 (GRCm39) |
|
probably null |
Het |
| Slc22a6 |
C |
A |
19: 8,600,980 (GRCm39) |
A391E |
possibly damaging |
Het |
| Slc41a3 |
G |
A |
6: 90,621,153 (GRCm39) |
G372S |
probably damaging |
Het |
| Sqor |
G |
T |
2: 122,641,690 (GRCm39) |
K3N |
probably damaging |
Het |
| Srl |
T |
C |
16: 4,310,244 (GRCm39) |
Q495R |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp3 |
G |
T |
3: 108,708,187 (GRCm39) |
D371E |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,261,659 (GRCm39) |
V47F |
probably damaging |
Het |
| Usp11 |
A |
T |
X: 20,584,284 (GRCm39) |
E622V |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,126 (GRCm39) |
Y143* |
probably null |
Het |
| Zfp280d |
A |
G |
9: 72,229,727 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zmat1 |
T |
C |
X: 133,874,021 (GRCm39) |
T457A |
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 |
|
|
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