Incidental Mutation 'R6854:Pml'
ID 535153
Institutional Source Beutler Lab
Gene Symbol Pml
Ensembl Gene ENSMUSG00000036986
Gene Name promyelocytic leukemia
Synonyms Trim19, 1200009E24Rik
MMRRC Submission 044957-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6854 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58125359-58157069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 58127189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 806 (A806G)
Ref Sequence ENSEMBL: ENSMUSP00000109771 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085673] [ENSMUST00000114136] [ENSMUST00000124063] [ENSMUST00000135310] [ENSMUST00000153820]
AlphaFold Q60953
Predicted Effect probably damaging
Transcript: ENSMUST00000085673
AA Change: A852G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: A852G

DomainStartEndE-ValueType
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: A806G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: A806G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000124063
AA Change: A91G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118232
Gene: ENSMUSG00000036986
AA Change: A91G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126690
SMART Domains Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000153820
SMART Domains Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,992,599 (GRCm39) S4628P probably damaging Het
Aspm G A 1: 139,390,920 (GRCm39) R735H possibly damaging Het
Atp4a T C 7: 30,414,433 (GRCm39) V152A probably benign Het
BC035947 G A 1: 78,475,125 (GRCm39) T469I probably damaging Het
Bicra A T 7: 15,722,687 (GRCm39) S277T probably benign Het
Catsperg1 A T 7: 28,881,127 (GRCm39) N1142K possibly damaging Het
Ccnd3 T C 17: 47,889,645 (GRCm39) probably benign Het
Cdc25a A G 9: 109,708,995 (GRCm39) K79E probably damaging Het
Cfap44 A G 16: 44,269,391 (GRCm39) probably null Het
Chd5 C A 4: 152,467,395 (GRCm39) N1644K probably damaging Het
Flrt3 C T 2: 140,502,638 (GRCm39) R330H probably damaging Het
Gm6034 T A 17: 36,368,110 (GRCm39) probably null Het
Hivep1 A G 13: 42,309,983 (GRCm39) E741G probably damaging Het
Iqgap3 T C 3: 88,004,258 (GRCm39) V448A probably damaging Het
Itsn2 A G 12: 4,702,382 (GRCm39) R679G probably benign Het
Klrb1c A G 6: 128,765,381 (GRCm39) S70P possibly damaging Het
Maml2 C T 9: 13,617,131 (GRCm39) T159I possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Mycl G A 4: 122,894,039 (GRCm39) D280N probably damaging Het
Nlrp1b G A 11: 71,119,259 (GRCm39) T12I possibly damaging Het
Or4f14c T C 2: 111,940,992 (GRCm39) N202D probably benign Het
Or5h19 A C 16: 58,856,428 (GRCm39) I224S possibly damaging Het
Palmd A G 3: 116,717,112 (GRCm39) S462P probably benign Het
Phyhd1 A C 2: 30,159,773 (GRCm39) I36L possibly damaging Het
Plcd1 T C 9: 118,903,389 (GRCm39) probably null Het
Ppp6r1 C A 7: 4,635,395 (GRCm39) A838S probably benign Het
Prkdc C T 16: 15,469,402 (GRCm39) T169I probably damaging Het
Prr23a1 G T 9: 98,724,988 (GRCm39) V117L possibly damaging Het
Pus7 T C 5: 23,973,845 (GRCm39) silent Het
Rdh7 T C 10: 127,724,250 (GRCm39) E78G probably benign Het
Repin1 G T 6: 48,570,825 (GRCm39) probably benign Het
Rptn A G 3: 93,305,430 (GRCm39) N921S possibly damaging Het
Sema4f A G 6: 82,894,983 (GRCm39) L404P probably damaging Het
Serinc4 T A 2: 121,287,031 (GRCm39) M2L probably benign Het
Siglecf T C 7: 43,001,604 (GRCm39) V138A probably benign Het
Slc66a3 G A 12: 17,049,830 (GRCm39) L43F probably damaging Het
Speer2 T A 16: 69,655,775 (GRCm39) Q106L probably damaging Het
Sptb G A 12: 76,650,254 (GRCm39) P1821L probably damaging Het
St3gal3 C A 4: 117,815,727 (GRCm39) M107I probably benign Het
Tmem25 T C 9: 44,707,305 (GRCm39) K265E possibly damaging Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vsig10 G A 5: 117,476,472 (GRCm39) V309I probably benign Het
Zfp318 G GAAGAAA 17: 46,723,468 (GRCm39) probably benign Het
Other mutations in Pml
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CACAGAGAAAGGACACCTGTTC -3'
(R):5'- AGTGTTTTGCTTCCCTGCAG -3'

Sequencing Primer
(F):5'- CCTGTTCTGAACTAAATGACCAGG -3'
(R):5'- CTGCAGCCCCTAATTCAGG -3'
Posted On 2018-09-12