Incidental Mutation 'K3955:Paf1'
| ID |
67232 |
| Institutional Source |
Beutler Lab
|
| 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 # |
K3955 (G3)
of strain
706
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28092376-28098813 bp(+) (GRCm39) |
| Type of Mutation |
splice site (2597 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28096350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147037
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000003536]
[ENSMUST00000040531]
[ENSMUST00000208126]
[ENSMUST00000208199]
[ENSMUST00000207766]
|
| AlphaFold |
Q8K2T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003529
AA Change: V321A
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: V321A
| 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 null
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: ENSMUST00000208885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154823
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208126
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152512
|
| Meta Mutation Damage Score |
0.5588 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| Agap1 |
G |
A |
1: 89,815,326 (GRCm39) |
R738H |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,311,001 (GRCm39) |
E2G |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,004,536 (GRCm39) |
|
probably benign |
Het |
| Atmin |
T |
A |
8: 117,683,775 (GRCm39) |
C478* |
probably null |
Het |
| Calr |
T |
C |
8: 85,572,902 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cdh13 |
G |
A |
8: 119,401,843 (GRCm39) |
V82M |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,777,259 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,721,293 (GRCm39) |
Y1854H |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 30,988,416 (GRCm39) |
M3429L |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,474,887 (GRCm39) |
F1225S |
probably benign |
Het |
| E030025P04Rik |
G |
A |
11: 109,034,778 (GRCm39) |
P37S |
unknown |
Het |
| Eral1 |
A |
T |
11: 77,966,847 (GRCm39) |
D189E |
probably damaging |
Het |
| Fbxw14 |
G |
T |
9: 109,105,313 (GRCm39) |
P284Q |
possibly damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,425,251 (GRCm39) |
V260A |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,345,097 (GRCm38) |
F30Y |
probably damaging |
Het |
| Gjb4 |
A |
T |
4: 127,245,293 (GRCm39) |
V216D |
probably benign |
Het |
| Gm9758 |
G |
A |
5: 14,963,522 (GRCm39) |
|
probably benign |
Het |
| Gm9758 |
C |
G |
5: 14,963,553 (GRCm39) |
V92L |
probably benign |
Het |
| Gmps |
A |
C |
3: 63,908,954 (GRCm39) |
R485S |
probably damaging |
Het |
| Gtdc1 |
C |
T |
2: 44,642,233 (GRCm39) |
|
probably null |
Het |
| H2-Ob |
C |
T |
17: 34,460,158 (GRCm39) |
R19C |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,206,842 (GRCm39) |
V103A |
probably damaging |
Het |
| Mtrex |
A |
C |
13: 113,047,513 (GRCm39) |
Y277* |
probably null |
Het |
| Ndnf |
G |
A |
6: 65,678,413 (GRCm39) |
|
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,375 (GRCm39) |
Y211C |
probably damaging |
Het |
| Notch4 |
C |
T |
17: 34,787,436 (GRCm39) |
T332I |
probably damaging |
Het |
| Or13c25 |
A |
G |
4: 52,911,081 (GRCm39) |
F238L |
probably damaging |
Het |
| Or8g28 |
A |
C |
9: 39,169,926 (GRCm39) |
L14W |
probably damaging |
Het |
| Or8g53 |
A |
G |
9: 39,683,469 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb1 |
G |
T |
18: 37,399,026 (GRCm39) |
G326C |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Pramel25 |
T |
C |
4: 143,521,710 (GRCm39) |
I442T |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,251,604 (GRCm39) |
|
probably benign |
Het |
| Proser3 |
G |
T |
7: 30,242,924 (GRCm39) |
P218T |
probably damaging |
Het |
| Rccd1 |
G |
A |
7: 79,970,419 (GRCm39) |
S66F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,323,932 (GRCm39) |
S54* |
probably null |
Het |
| Samd15 |
G |
T |
12: 87,247,534 (GRCm39) |
G73V |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,923,359 (GRCm39) |
N462S |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,977,439 (GRCm39) |
A1296S |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,552,045 (GRCm39) |
E542G |
possibly damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,755 (GRCm39) |
T232I |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,651,564 (GRCm39) |
Y1696N |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,201,434 (GRCm39) |
I1102T |
probably benign |
Het |
| Vmn1r84 |
C |
T |
7: 12,095,884 (GRCm39) |
V270M |
probably damaging |
Het |
| Wasf1 |
C |
T |
10: 40,812,191 (GRCm39) |
P327S |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACCAGATGATGTGTAAGTGGG -3'
(R):5'- ATGGCATTAAGACCACAGCCAGG -3'
Sequencing Primer
(F):5'- gggttagggtcagggtcag -3'
(R):5'- CCACAAAGGGCCAAAGTCAT -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation