Incidental Mutation 'R1171:Pml'
ID 99417
Institutional Source Beutler Lab
Gene Symbol Pml
Ensembl Gene ENSMUSG00000036986
Gene Name promyelocytic leukemia
Synonyms Trim19, 1200009E24Rik
MMRRC Submission 039244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1171 (G1)
Quality Score 178
Status Not validated
Chromosome 9
Chromosomal Location 58125359-58157069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58141821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 337 (V337A)
Ref Sequence ENSEMBL: ENSMUSP00000118955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085673] [ENSMUST00000114136] [ENSMUST00000124063] [ENSMUST00000135310] [ENSMUST00000153820] [ENSMUST00000148301]
AlphaFold Q60953
Predicted Effect probably damaging
Transcript: ENSMUST00000085673
AA Change: V337A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082816
Gene: ENSMUSG00000036986
AA Change: V337A

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: V337A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109771
Gene: ENSMUSG00000036986
AA Change: V337A

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 unknown
Transcript: ENSMUST00000126690
AA Change: V328A
SMART Domains Protein: ENSMUSP00000116787
Gene: ENSMUSG00000036986
AA Change: V328A

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 damaging
Transcript: ENSMUST00000135310
AA Change: V337A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122854
Gene: ENSMUSG00000036986
AA Change: V337A

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 noncoding transcript
Transcript: ENSMUST00000138775
Predicted Effect probably damaging
Transcript: ENSMUST00000153820
AA Change: V337A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118955
Gene: ENSMUSG00000036986
AA Change: V337A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154572
Predicted Effect probably benign
Transcript: ENSMUST00000148301
SMART Domains Protein: ENSMUSP00000120620
Gene: ENSMUSG00000036986

DomainStartEndE-ValueType
low complexity region 27 40 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.6%
  • 10x: 96.2%
  • 20x: 91.6%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,140,075 (GRCm39) E492V probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atr T C 9: 95,789,376 (GRCm39) F1511L probably damaging Het
Bdkrb2 G T 12: 105,558,416 (GRCm39) R219L probably benign Het
Bhmt2 A T 13: 93,798,837 (GRCm39) M328K probably benign Het
Btbd3 A G 2: 138,125,881 (GRCm39) D286G probably benign Het
Bub1b T G 2: 118,437,167 (GRCm39) L122V probably benign Het
Caml T C 13: 55,772,820 (GRCm39) S155P probably damaging Het
Cfap43 T C 19: 47,824,150 (GRCm39) K74E probably benign Het
Chst4 A G 8: 110,757,255 (GRCm39) S120P probably damaging Het
Col11a1 A G 3: 113,860,213 (GRCm39) D213G unknown Het
Cripto C A 9: 110,772,235 (GRCm39) V54L probably benign Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Cxcl10 CAC CACTAAC 5: 92,495,945 (GRCm39) probably null Het
Cyp26b1 A T 6: 84,553,653 (GRCm39) I167N possibly damaging Het
Dchs1 A G 7: 105,406,921 (GRCm39) S2195P probably benign Het
Ddx25 T A 9: 35,458,142 (GRCm39) K326* probably null Het
Dip2c A T 13: 9,543,162 (GRCm39) Y36F possibly damaging Het
Dock2 T C 11: 34,586,068 (GRCm39) D538G probably damaging Het
E4f1 C T 17: 24,670,523 (GRCm39) D55N probably damaging Het
Emp1 G T 6: 135,358,077 (GRCm39) W141L probably damaging Het
Faim2 T A 15: 99,398,135 (GRCm39) H271L probably benign Het
Fbxw9 T C 8: 85,792,707 (GRCm39) M352T possibly damaging Het
Fcrl2 A T 3: 87,164,167 (GRCm39) F321I probably benign Het
Frzb C T 2: 80,268,834 (GRCm39) probably null Het
Gal3st1 G T 11: 3,948,931 (GRCm39) K379N probably damaging Het
Gm5519 G A 19: 33,800,372 (GRCm39) C22Y possibly damaging Het
Gpn3 T C 5: 122,516,583 (GRCm39) F71L probably benign Het
H2-M9 A G 17: 36,952,545 (GRCm39) V167A probably benign Het
Hars1 A G 18: 36,904,467 (GRCm39) F182L possibly damaging Het
Hid1 T C 11: 115,243,543 (GRCm39) T502A probably benign Het
Hipk3 G T 2: 104,302,021 (GRCm39) T57K probably benign Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itpk1 G A 12: 102,572,378 (GRCm39) L112F probably damaging Het
Klk1b9 T A 7: 43,443,817 (GRCm39) D110E possibly damaging Het
Lemd3 A T 10: 120,785,246 (GRCm39) M535K possibly damaging Het
Lipg A T 18: 75,078,894 (GRCm39) S453T possibly damaging Het
Lrrc75a A T 11: 62,500,069 (GRCm39) W150R probably damaging Het
Lyg1 T C 1: 37,986,305 (GRCm39) E143G probably damaging Het
Map3k1 A G 13: 111,892,177 (GRCm39) V1026A probably benign Het
Mgat3 T A 15: 80,095,838 (GRCm39) F222I probably benign Het
Mindy4 A T 6: 55,232,601 (GRCm39) N348I possibly damaging Het
Ms4a20 T C 19: 11,089,741 (GRCm39) Y48C probably damaging Het
Myo1b A C 1: 51,817,684 (GRCm39) F532C probably damaging Het
Naif1 T A 2: 32,342,558 (GRCm39) N36K probably damaging Het
Nkpd1 C A 7: 19,258,012 (GRCm39) A597E possibly damaging Het
Npr2 A G 4: 43,647,260 (GRCm39) D772G possibly damaging Het
Or52n4 T G 7: 104,294,204 (GRCm39) D123A probably damaging Het
Or6a2 T C 7: 106,600,791 (GRCm39) N92S probably benign Het
Pcolce2 A T 9: 95,576,793 (GRCm39) M355L probably benign Het
Pdgfra A T 5: 75,334,108 (GRCm39) I394F probably damaging Het
Pdzrn3 G A 6: 101,127,838 (GRCm39) R943C probably damaging Het
Pnpla2 T A 7: 141,038,794 (GRCm39) M321K probably benign Het
Poln A T 5: 34,261,284 (GRCm39) N546K probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prss28 T A 17: 25,529,029 (GRCm39) F123L possibly damaging Het
Psg18 A G 7: 18,080,004 (GRCm39) V399A probably benign Het
Rab5a T C 17: 53,813,443 (GRCm39) C212R probably damaging Het
Ranbp6 A T 19: 29,789,679 (GRCm39) D224E probably benign Het
Recql4 T C 15: 76,588,239 (GRCm39) I1104M possibly damaging Het
Rev1 A T 1: 38,127,581 (GRCm39) N226K possibly damaging Het
Rhbdl3 T A 11: 80,244,418 (GRCm39) V375E possibly damaging Het
Senp6 T A 9: 80,024,007 (GRCm39) N423K possibly damaging Het
Sertad2 C G 11: 20,598,091 (GRCm39) L96V probably benign Het
Slc33a1 T A 3: 63,861,315 (GRCm39) T296S probably benign Het
Smurf2 G A 11: 106,743,444 (GRCm39) P188S possibly damaging Het
Spta1 T A 1: 174,039,180 (GRCm39) Y1174* probably null Het
Stra6l A T 4: 45,864,982 (GRCm39) T103S probably benign Het
Swt1 C T 1: 151,281,272 (GRCm39) A352T probably damaging Het
Thoc2l T C 5: 104,668,769 (GRCm39) V1097A possibly damaging Het
Tigd2 T A 6: 59,188,361 (GRCm39) N409K possibly damaging Het
Tlr6 G T 5: 65,112,593 (GRCm39) H105N probably benign Het
Tmprss9 A C 10: 80,715,692 (GRCm39) T15P possibly damaging Het
Tnik C T 3: 28,587,089 (GRCm39) T120M probably damaging Het
Tnr T A 1: 159,685,780 (GRCm39) I337N probably damaging Het
Top3a A G 11: 60,641,419 (GRCm39) Y422H probably benign Het
Trim67 A G 8: 125,555,820 (GRCm39) N768S probably damaging Het
Ttn A G 2: 76,536,310 (GRCm39) V35016A probably benign Het
Utrn A C 10: 12,357,052 (GRCm39) S312R probably damaging Het
Vdac2 A G 14: 21,887,879 (GRCm39) Y62C probably damaging Het
Vwa5b2 A G 16: 20,423,734 (GRCm39) T1216A probably benign Het
Wfdc16 T C 2: 164,480,403 (GRCm39) K31E possibly damaging Het
Wtip C T 7: 33,824,921 (GRCm39) C221Y probably damaging Het
Xrn1 A G 9: 95,873,064 (GRCm39) D640G possibly damaging Het
Zdhhc5 T C 2: 84,522,685 (GRCm39) R293G probably benign Het
Zfp536 T C 7: 37,269,059 (GRCm39) D119G probably damaging Het
Zfp81 T C 17: 33,554,254 (GRCm39) T187A probably benign Het
Zfp810 C T 9: 22,190,122 (GRCm39) G262D possibly damaging Het
Zfp963 A C 8: 70,195,669 (GRCm39) I203M possibly damaging Het
Zfpm2 T C 15: 40,965,075 (GRCm39) M520T probably damaging Het
Zswim8 G A 14: 20,763,181 (GRCm39) R360Q possibly damaging Het
Zwilch T A 9: 64,065,999 (GRCm39) H254L possibly damaging 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
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
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
Posted On 2014-01-15