Incidental Mutation 'R8517:Pml'
ID 656212
Institutional Source Beutler Lab
Gene Symbol Pml
Ensembl Gene ENSMUSG00000036986
Gene Name promyelocytic leukemia
Synonyms Trim19, 1200009E24Rik
MMRRC Submission 067849-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 58125359-58157069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58127651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 698 (Q698L)
Ref Sequence ENSEMBL: ENSMUSP00000082816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085673] [ENSMUST00000114136] [ENSMUST00000124063] [ENSMUST00000135310] [ENSMUST00000153820]
AlphaFold Q60953
Predicted Effect possibly damaging
Transcript: ENSMUST00000085673
AA Change: Q698L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: Q698L

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 possibly damaging
Transcript: ENSMUST00000114136
AA Change: Q652L

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: Q652L

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 probably benign
Transcript: ENSMUST00000124063
SMART Domains Protein: ENSMUSP00000118232
Gene: ENSMUSG00000036986

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: 98.9%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,206 (GRCm39) D131E probably damaging Het
Abca17 C A 17: 24,536,207 (GRCm39) V487F probably benign Het
Anapc5 T C 5: 122,959,093 (GRCm39) S41G probably benign Het
Aoc1 C T 6: 48,883,644 (GRCm39) Q507* probably null Het
Ccdc171 G A 4: 83,661,298 (GRCm39) R1136H probably damaging Het
Clspn A G 4: 126,460,012 (GRCm39) D413G probably benign Het
Copz2 A G 11: 96,744,309 (GRCm39) K74E possibly damaging Het
Cpsf4l C A 11: 113,599,651 (GRCm39) A45S probably benign Het
Cr2 T C 1: 194,838,207 (GRCm39) I710V probably benign Het
Csmd2 G A 4: 128,446,479 (GRCm39) R3348Q Het
Dchs2 A G 3: 83,178,419 (GRCm39) I1157M probably damaging Het
Dcst1 A G 3: 89,272,455 (GRCm39) F3L probably benign Het
Dennd5b A C 6: 148,930,619 (GRCm39) C743G probably damaging Het
Dnah6 T C 6: 73,155,440 (GRCm39) E725G probably benign Het
Dnajc3 G T 14: 119,190,589 (GRCm39) G51* probably null Het
Dyrk2 T C 10: 118,696,926 (GRCm39) T111A probably benign Het
F5 T A 1: 164,003,822 (GRCm39) F206I probably damaging Het
Fam217b T A 2: 178,062,565 (GRCm39) S176R probably benign Het
Farsb A T 1: 78,439,933 (GRCm39) L313* probably null Het
Fbh1 A G 2: 11,782,241 (GRCm39) probably null Het
Fgd4 G A 16: 16,240,509 (GRCm39) T740I probably benign Het
Gprc6a G T 10: 51,507,337 (GRCm39) A64D probably benign Het
Gtf3c1 A T 7: 125,253,723 (GRCm39) V1365E probably damaging Het
Hdc C G 2: 126,439,890 (GRCm39) probably null Het
Igkv5-39 T G 6: 69,877,553 (GRCm39) I68L possibly damaging Het
Kcnh2 A T 5: 24,531,636 (GRCm39) V425D probably damaging Het
Kcnj12 T C 11: 60,960,199 (GRCm39) S166P probably benign Het
Krtap16-1 A T 11: 99,876,524 (GRCm39) C293* probably null Het
Map7 T C 10: 20,137,581 (GRCm39) V251A probably damaging Het
Myo7b G T 18: 32,100,244 (GRCm39) L1597M possibly damaging Het
Nmu T C 5: 76,493,326 (GRCm39) E82G possibly damaging Het
Nup85 T C 11: 115,455,390 (GRCm39) probably null Het
Nwd2 A G 5: 63,948,925 (GRCm39) N166D probably damaging Het
Or52n2b T A 7: 104,565,681 (GRCm39) H274L possibly damaging Het
Pbrm1 C A 14: 30,789,739 (GRCm39) D784E probably benign Het
Pcdhgb1 T A 18: 37,815,117 (GRCm39) M536K possibly damaging Het
Pon1 T C 6: 5,171,769 (GRCm39) Y294C probably benign Het
Rasal2 T C 1: 156,973,849 (GRCm39) probably null Het
Rims1 T A 1: 22,522,246 (GRCm39) H484L probably damaging Het
Rpia C A 6: 70,743,630 (GRCm39) V274L possibly damaging Het
Sart1 A G 19: 5,433,225 (GRCm39) L424P probably damaging Het
Scnm1 A C 3: 95,040,134 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,968 (GRCm39) M613L possibly damaging Het
Snph A G 2: 151,435,641 (GRCm39) V429A probably damaging Het
Tarbp1 T A 8: 127,170,934 (GRCm39) D1022V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ttc8 A G 12: 98,909,594 (GRCm39) N100D probably benign Het
Zbtb49 T A 5: 38,357,997 (GRCm39) H752L probably benign Het
Zfp1005 A T 2: 150,110,043 (GRCm39) E244D probably benign Het
Zfp263 T C 16: 3,564,760 (GRCm39) probably null Het
Zfp46 A G 4: 136,018,458 (GRCm39) T431A 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
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
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'- TCAAGGAGGCAGCACAAGTC -3'
(R):5'- GCCCAGAAAATTAGCCAGCTG -3'

Sequencing Primer
(F):5'- GCAGCACAAGTCCCTCATGG -3'
(R):5'- TGTCTACTCCAAAGCTGTC -3'
Posted On 2020-10-20