Incidental Mutation 'R2189:Pml'
ID |
237975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pml
|
Ensembl Gene |
ENSMUSG00000036986 |
Gene Name |
promyelocytic leukemia |
Synonyms |
Trim19, 1200009E24Rik |
MMRRC Submission |
040191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2189 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58125359-58157069 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58142157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 225
(N225S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085673]
[ENSMUST00000114136]
[ENSMUST00000124063]
[ENSMUST00000135310]
[ENSMUST00000153820]
[ENSMUST00000148301]
|
AlphaFold |
Q60953 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000085673
AA Change: N225S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000082816 Gene: ENSMUSG00000036986 AA Change: N225S
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 benign
Transcript: ENSMUST00000114136
AA Change: N225S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000109771 Gene: ENSMUSG00000036986 AA Change: N225S
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 |
unknown
Transcript: ENSMUST00000126690
AA Change: N216S
|
SMART Domains |
Protein: ENSMUSP00000116787 Gene: ENSMUSG00000036986 AA Change: N216S
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: ENSMUST00000135310
AA Change: N225S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000122854 Gene: ENSMUSG00000036986 AA Change: N225S
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 |
noncoding transcript
Transcript: ENSMUST00000138775
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153820
AA Change: N225S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118955 Gene: ENSMUSG00000036986 AA Change: N225S
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 |
noncoding transcript
Transcript: ENSMUST00000148628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154572
|
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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
Sugct |
T |
C |
13: 17,836,851 (GRCm39) |
I104V |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly damaging |
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 |
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 |
R5300:Pml
|
UTSW |
9 |
58,154,302 (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'- TTCTCAATGTCTGCGCGTGC -3'
(R):5'- CGGTGGAGGAATCGTTAACTG -3'
Sequencing Primer
(F):5'- CGTGGTCCAGCTGTCCTATAG -3'
(R):5'- CAACTCAGGTTGTCAGACTTGGC -3'
|
Posted On |
2014-10-02 |