Incidental Mutation 'R5413:Paf1'
| ID |
427589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Paf1
|
| Ensembl Gene |
ENSMUSG00000003437 |
| Gene Name |
Paf1, RNA polymerase II complex component |
| Synonyms |
5730511K23Rik |
| MMRRC Submission |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28092376-28098813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28096040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 249
(M249T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003529]
[ENSMUST00000003536]
[ENSMUST00000040531]
[ENSMUST00000207766]
[ENSMUST00000208126]
[ENSMUST00000208199]
|
| AlphaFold |
Q8K2T8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003529
AA Change: M249T
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003529
Gene: ENSMUSG00000003437
AA Change: M249T
| 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 |
noncoding transcript
Transcript: ENSMUST00000146886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152512
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208199
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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 |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dennd2a |
A |
T |
6: 39,441,227 (GRCm39) |
F964I |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGCCATGATCAGGTCTGTG -3'
(R):5'- GCCCATTGATTCATGAGGAGGAG -3'
Sequencing Primer
(F):5'- CCATGATCAGGTCTGTGGTCTTG -3'
(R):5'- TTCATGAGGAGGAGACATACTTCTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation