Incidental Mutation 'IGL03390:Trim39'
ID421028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim39
Ensembl Gene ENSMUSG00000045409
Gene Nametripartite motif-containing 39
SynonymsRnf23, RING-B box-coiled-coil-B30.2, RBCC-B30.2, tfp, 1100001D15Rik, E130103K13Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03390
Quality Score
Status
Chromosome17
Chromosomal Location36258873-36272247 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36260571 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 432 (K432E)
Ref Sequence ENSEMBL: ENSMUSP00000133298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025319] [ENSMUST00000042717] [ENSMUST00000077535] [ENSMUST00000113706] [ENSMUST00000172573] [ENSMUST00000173369] [ENSMUST00000173665]
Predicted Effect probably benign
Transcript: ENSMUST00000025319
SMART Domains Protein: ENSMUSP00000025319
Gene: ENSMUSG00000024446

DomainStartEndE-ValueType
Pfam:Rpr2 13 96 1.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042717
AA Change: K424E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: K424E

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
RING 29 69 1.9e-10 SMART
BBOX 102 143 3.21e-8 SMART
coiled coil region 184 240 N/A INTRINSIC
PRY 306 359 2.3e-27 SMART
SPRY 360 485 1.95e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077535
SMART Domains Protein: ENSMUSP00000076739
Gene: ENSMUSG00000024446

DomainStartEndE-ValueType
low complexity region 28 42 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113704
Predicted Effect probably damaging
Transcript: ENSMUST00000113706
AA Change: K424E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: K424E

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
RING 29 69 1.9e-10 SMART
BBOX 102 143 3.21e-8 SMART
coiled coil region 184 240 N/A INTRINSIC
PRY 306 359 2.3e-27 SMART
SPRY 360 485 1.95e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172573
SMART Domains Protein: ENSMUSP00000133400
Gene: ENSMUSG00000024446

DomainStartEndE-ValueType
Pfam:Rpr2 1 48 4.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173122
Predicted Effect probably damaging
Transcript: ENSMUST00000173369
AA Change: K432E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: K432E

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
RING 29 69 1.9e-10 SMART
BBOX 102 143 3.21e-8 SMART
coiled coil region 184 240 N/A INTRINSIC
PRY 314 367 1.23e-27 SMART
SPRY 368 493 1.95e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173486
Predicted Effect probably benign
Transcript: ENSMUST00000173665
SMART Domains Protein: ENSMUSP00000133529
Gene: ENSMUSG00000045409

DomainStartEndE-ValueType
BBOX 1 40 5.81e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174197
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174824
Coding Region Coverage
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. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 124,839,825 probably benign Het
Ccdc18 A G 5: 108,212,131 Y1127C probably damaging Het
Cdnf T A 2: 3,523,826 L134* probably null Het
Col11a1 A G 3: 114,090,253 D257G unknown Het
Cthrc1 T A 15: 39,077,134 I44N probably benign Het
Dlec1 T C 9: 119,123,220 Y545H probably benign Het
Drosha T G 15: 12,884,983 probably null Het
Ebf2 A G 14: 67,424,109 N562S probably benign Het
Fem1b G A 9: 62,796,964 A338V probably benign Het
Gga3 A T 11: 115,586,994 probably null Het
Gm7247 A T 14: 51,523,457 H161L probably benign Het
Gm7367 A G 7: 60,155,769 noncoding transcript Het
Inpp5a T G 7: 139,525,748 V213G probably benign Het
Kcns3 T C 12: 11,091,232 T489A probably benign Het
Kifc3 G A 8: 95,108,613 A211V probably damaging Het
Krt71 T C 15: 101,734,552 D507G possibly damaging Het
Lama5 T C 2: 180,207,218 Y224C probably damaging Het
Lrrc37a A G 11: 103,496,031 L2421P unknown Het
Mtch2 C T 2: 90,859,550 T205I probably benign Het
Olfr108 T C 17: 37,446,364 V281A probably benign Het
Prkdc T A 16: 15,670,626 C537* probably null Het
Prl2a1 T C 13: 27,801,716 V5A probably benign Het
Prob1 T C 18: 35,654,139 Y354C probably benign Het
Rimklb C T 6: 122,456,321 S347N possibly damaging Het
Rnase2a T C 14: 51,255,488 D140G probably damaging Het
Ryr2 G A 13: 11,772,416 P1017S probably benign Het
Slc3a1 A G 17: 85,032,777 D209G probably damaging Het
Sntn T A 14: 13,682,205 probably benign Het
Tal2 G T 4: 53,785,994 L58F probably damaging Het
Trmt5 A T 12: 73,282,727 M219K probably benign Het
Vmn2r3 T A 3: 64,275,346 I311L possibly damaging Het
Wfdc17 A T 11: 83,704,785 probably benign Het
Zbtb6 T G 2: 37,429,572 I115L probably damaging Het
Zfp750 A T 11: 121,511,944 C659* probably null Het
Other mutations in Trim39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Trim39 APN 17 36263963 splice site probably benign
IGL01462:Trim39 APN 17 36263725 splice site probably benign
IGL02243:Trim39 APN 17 36260384 missense probably damaging 1.00
barba UTSW 17 36268854 missense probably damaging 1.00
rossa UTSW 17 36260915 missense probably damaging 1.00
PIT4305001:Trim39 UTSW 17 36268970 missense possibly damaging 0.93
R0458:Trim39 UTSW 17 36261512 missense probably damaging 1.00
R0569:Trim39 UTSW 17 36263731 missense probably benign 0.36
R1565:Trim39 UTSW 17 36268854 missense probably damaging 1.00
R1769:Trim39 UTSW 17 36263940 missense probably damaging 1.00
R1969:Trim39 UTSW 17 36268753 missense probably benign 0.01
R2009:Trim39 UTSW 17 36263754 missense possibly damaging 0.92
R2568:Trim39 UTSW 17 36269164 unclassified probably benign
R5206:Trim39 UTSW 17 36260490 missense probably damaging 1.00
R5443:Trim39 UTSW 17 36260753 missense probably damaging 1.00
R6481:Trim39 UTSW 17 36268662 missense probably benign 0.03
R7132:Trim39 UTSW 17 36260655 missense probably benign 0.25
R7563:Trim39 UTSW 17 36260915 missense probably damaging 1.00
R7739:Trim39 UTSW 17 36260504 missense possibly damaging 0.50
R8433:Trim39 UTSW 17 36260705 missense possibly damaging 0.87
Posted On2016-08-02