Incidental Mutation 'IGL02948:Trim55'
ID 364842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim55
Ensembl Gene ENSMUSG00000060913
Gene Name tripartite motif-containing 55
Synonyms Murf2, D830041C10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02948
Quality Score
Status
Chromosome 3
Chromosomal Location 19698638-19746585 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19725116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 211 (L211Q)
Ref Sequence ENSEMBL: ENSMUSP00000029139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029139]
AlphaFold G3X8Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000029139
AA Change: L211Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029139
Gene: ENSMUSG00000060913
AA Change: L211Q

DomainStartEndE-ValueType
RING 26 81 3.69e-8 SMART
BBOX 119 161 3.58e-6 SMART
Blast:BBC 168 294 2e-33 BLAST
PDB:4M3L|D 215 272 2e-12 PDB
low complexity region 329 355 N/A INTRINSIC
low complexity region 384 398 N/A INTRINSIC
low complexity region 474 485 N/A INTRINSIC
low complexity region 514 526 N/A INTRINSIC
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 contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased heart and muscle to body weight ratios and cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Trim55
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03095:Trim55 APN 3 19,728,629 (GRCm39) missense probably benign 0.00
IGL03411:Trim55 APN 3 19,713,354 (GRCm39) missense probably damaging 0.99
R0011:Trim55 UTSW 3 19,725,163 (GRCm39) missense probably benign 0.00
R0021:Trim55 UTSW 3 19,698,866 (GRCm39) missense probably benign 0.04
R0021:Trim55 UTSW 3 19,698,866 (GRCm39) missense probably benign 0.04
R0194:Trim55 UTSW 3 19,716,025 (GRCm39) missense probably benign 0.00
R0437:Trim55 UTSW 3 19,725,142 (GRCm39) missense probably benign
R0450:Trim55 UTSW 3 19,725,256 (GRCm39) missense possibly damaging 0.55
R0469:Trim55 UTSW 3 19,725,256 (GRCm39) missense possibly damaging 0.55
R1029:Trim55 UTSW 3 19,698,906 (GRCm39) missense probably damaging 1.00
R1397:Trim55 UTSW 3 19,698,801 (GRCm39) missense probably benign 0.01
R1928:Trim55 UTSW 3 19,716,046 (GRCm39) critical splice donor site probably null
R2079:Trim55 UTSW 3 19,698,830 (GRCm39) missense probably damaging 0.98
R3856:Trim55 UTSW 3 19,727,120 (GRCm39) missense probably benign
R4646:Trim55 UTSW 3 19,725,286 (GRCm39) missense probably benign 0.03
R4907:Trim55 UTSW 3 19,728,538 (GRCm39) missense probably benign
R5090:Trim55 UTSW 3 19,725,771 (GRCm39) missense probably benign 0.08
R5562:Trim55 UTSW 3 19,713,317 (GRCm39) missense probably benign 0.04
R6370:Trim55 UTSW 3 19,745,650 (GRCm39) missense possibly damaging 0.87
R6658:Trim55 UTSW 3 19,745,719 (GRCm39) missense probably damaging 1.00
R6786:Trim55 UTSW 3 19,726,938 (GRCm39) missense probably benign
R8147:Trim55 UTSW 3 19,727,011 (GRCm39) missense probably benign 0.28
R8524:Trim55 UTSW 3 19,725,113 (GRCm39) missense probably benign 0.00
R8824:Trim55 UTSW 3 19,727,126 (GRCm39) missense probably benign
R8974:Trim55 UTSW 3 19,699,603 (GRCm39) missense probably damaging 0.96
R8977:Trim55 UTSW 3 19,713,341 (GRCm39) missense probably benign 0.17
R9283:Trim55 UTSW 3 19,699,612 (GRCm39) critical splice donor site probably null
R9302:Trim55 UTSW 3 19,727,153 (GRCm39) missense probably benign 0.04
R9380:Trim55 UTSW 3 19,728,559 (GRCm39) missense probably benign 0.00
R9657:Trim55 UTSW 3 19,728,671 (GRCm39) missense possibly damaging 0.46
R9732:Trim55 UTSW 3 19,716,039 (GRCm39) missense probably damaging 0.97
R9758:Trim55 UTSW 3 19,699,498 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18