Incidental Mutation 'R5300:Pml'
| ID |
405605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pml
|
| Ensembl Gene |
ENSMUSG00000036986 |
| Gene Name |
promyelocytic leukemia |
| Synonyms |
Trim19, 1200009E24Rik |
| MMRRC Submission |
042883-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58125359-58157069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58154302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 190
(N190K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085673]
[ENSMUST00000114136]
[ENSMUST00000124063]
[ENSMUST00000124982]
[ENSMUST00000135310]
[ENSMUST00000153820]
[ENSMUST00000148301]
|
| AlphaFold |
Q60953 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085673
AA Change: N190K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
RING
|
62 |
96 |
1.83e-3 |
SMART |
|
BBOX
|
129 |
171 |
4.99e-5 |
SMART |
|
Blast:BBOX
|
189 |
233 |
5e-7 |
BLAST |
|
Pfam:DUF3583
|
244 |
580 |
4e-166 |
PFAM |
|
Blast:EXOIII
|
619 |
762 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114136
AA Change: N190K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
RING
|
62 |
96 |
1.83e-3 |
SMART |
|
BBOX
|
129 |
171 |
4.99e-5 |
SMART |
|
Blast:BBOX
|
189 |
233 |
4e-7 |
BLAST |
|
Pfam:DUF3583
|
244 |
434 |
5.5e-109 |
PFAM |
|
Pfam:DUF3583
|
428 |
535 |
1.4e-57 |
PFAM |
|
Blast:EXOIII
|
573 |
716 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124063
|
| SMART Domains |
Protein: ENSMUSP00000118232
Gene: ENSMUSG00000036986
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124982
|
| SMART Domains |
Protein: ENSMUSP00000121380
Gene: ENSMUSG00000036986
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
56 |
1.83e-3 |
SMART |
|
Pfam:zf-B_box
|
89 |
119 |
4.3e-7 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126690
AA Change: N181K
|
| SMART Domains |
Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986
AA Change: N181K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
|
RING
|
54 |
88 |
1.83e-3 |
SMART |
|
BBOX
|
121 |
163 |
4.99e-5 |
SMART |
|
Blast:BBOX
|
181 |
225 |
4e-7 |
BLAST |
|
Pfam:DUF3583
|
236 |
422 |
1.4e-89 |
PFAM |
|
Pfam:DUF3583
|
411 |
526 |
2.1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130459
|
| SMART Domains |
Protein: ENSMUSP00000121330
Gene: ENSMUSG00000036986
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135310
AA Change: N190K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
RING
|
62 |
96 |
1.83e-3 |
SMART |
|
BBOX
|
129 |
171 |
4.99e-5 |
SMART |
|
Blast:BBOX
|
189 |
233 |
4e-7 |
BLAST |
|
Pfam:DUF3583
|
244 |
581 |
8.8e-193 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153820
AA Change: N190K
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: N190K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
RING
|
62 |
96 |
1.83e-3 |
SMART |
|
BBOX
|
129 |
171 |
4.99e-5 |
SMART |
|
Blast:BBOX
|
189 |
233 |
4e-7 |
BLAST |
|
Pfam:DUF3583
|
244 |
581 |
9.2e-193 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148301
|
| SMART Domains |
Protein: ENSMUSP00000120620
Gene: ENSMUSG00000036986
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene have an increased susceptibility to infection and to induction of tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,622,517 (GRCm39) |
K1644E |
probably benign |
Het |
| C7 |
C |
A |
15: 5,061,432 (GRCm39) |
G306W |
probably damaging |
Het |
| Ccdc185 |
A |
G |
1: 182,575,645 (GRCm39) |
V348A |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,929,595 (GRCm39) |
I19F |
probably benign |
Het |
| Dnaaf2 |
C |
G |
12: 69,245,002 (GRCm39) |
V20L |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,426,735 (GRCm39) |
Y58H |
probably damaging |
Het |
| Dsc1 |
T |
C |
18: 20,227,917 (GRCm39) |
S480G |
probably damaging |
Het |
| Eno4 |
G |
A |
19: 58,943,982 (GRCm39) |
|
probably null |
Het |
| Gm136 |
T |
G |
4: 34,750,930 (GRCm39) |
K114N |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,347,784 (GRCm39) |
L2970F |
unknown |
Het |
| Ly86 |
C |
T |
13: 37,602,588 (GRCm39) |
T160I |
probably benign |
Het |
| Mfsd4b1 |
A |
C |
10: 39,879,027 (GRCm39) |
F290C |
probably benign |
Het |
| Minar1 |
A |
T |
9: 89,485,252 (GRCm39) |
S48R |
probably damaging |
Het |
| Nbeal1 |
T |
G |
1: 60,274,718 (GRCm39) |
Y376* |
probably null |
Het |
| Nipbl |
A |
T |
15: 8,380,981 (GRCm39) |
S604T |
probably benign |
Het |
| Rin3 |
C |
A |
12: 102,335,929 (GRCm39) |
F533L |
probably benign |
Het |
| Scamp1 |
A |
G |
13: 94,340,670 (GRCm39) |
V233A |
probably damaging |
Het |
| Sppl2c |
A |
T |
11: 104,077,901 (GRCm39) |
N234Y |
possibly damaging |
Het |
| Tfap2b |
A |
G |
1: 19,298,677 (GRCm39) |
K278R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,550,704 (GRCm39) |
Y278C |
probably damaging |
Het |
| Trdn |
A |
G |
10: 33,071,978 (GRCm39) |
E215G |
probably damaging |
Het |
| Tssk6 |
T |
C |
8: 70,355,285 (GRCm39) |
S110P |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,974 (GRCm39) |
L153Q |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp667 |
A |
G |
7: 6,307,635 (GRCm39) |
H101R |
probably benign |
Het |
| Zfp772 |
A |
T |
7: 7,207,157 (GRCm39) |
M178K |
probably benign |
Het |
|
| Other mutations in Pml |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02158:Pml
|
APN |
9 |
58,154,286 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03147:Pml
|
UTSW |
9 |
58,137,326 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0019:Pml
|
UTSW |
9 |
58,127,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Pml
|
UTSW |
9 |
58,156,822 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1171:Pml
|
UTSW |
9 |
58,141,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Pml
|
UTSW |
9 |
58,142,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2330:Pml
|
UTSW |
9 |
58,141,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Pml
|
UTSW |
9 |
58,154,526 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4749:Pml
|
UTSW |
9 |
58,141,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5228:Pml
|
UTSW |
9 |
58,127,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5669:Pml
|
UTSW |
9 |
58,154,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5876:Pml
|
UTSW |
9 |
58,140,465 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6854:Pml
|
UTSW |
9 |
58,127,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6996:Pml
|
UTSW |
9 |
58,142,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Pml
|
UTSW |
9 |
58,137,177 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7448:Pml
|
UTSW |
9 |
58,154,496 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7762:Pml
|
UTSW |
9 |
58,127,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7833:Pml
|
UTSW |
9 |
58,141,968 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7834:Pml
|
UTSW |
9 |
58,141,968 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7903:Pml
|
UTSW |
9 |
58,156,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8040:Pml
|
UTSW |
9 |
58,141,968 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8041:Pml
|
UTSW |
9 |
58,141,968 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8042:Pml
|
UTSW |
9 |
58,141,968 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8046:Pml
|
UTSW |
9 |
58,154,256 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8284:Pml
|
UTSW |
9 |
58,136,643 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8517:Pml
|
UTSW |
9 |
58,127,651 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8762:Pml
|
UTSW |
9 |
58,154,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Pml
|
UTSW |
9 |
58,127,660 (GRCm39) |
missense |
probably benign |
|
|
R9310:Pml
|
UTSW |
9 |
58,156,945 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1088:Pml
|
UTSW |
9 |
58,141,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCAAAGATGACTCTGAAGC -3'
(R):5'- TGTTCTTCGAGAGCCTGCAG -3'
Sequencing Primer
(F):5'- GGAGCCCATTTTGAGTGA -3'
(R):5'- AGATCGTGGATGCTCAGGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation