Incidental Mutation 'IGL03012:Trim54'
ID407812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trim54
Ensembl Gene ENSMUSG00000062077
Gene Nametripartite motif-containing 54
SynonymsRnf30, 4930566I02Rik, MuRF3, 4930486E09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03012
Quality Score
Status
Chromosome5
Chromosomal Location31116712-31137630 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 31137145 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 339 (D339G)
Ref Sequence ENSEMBL: ENSMUSP00000144629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013771] [ENSMUST00000043475] [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201184] [ENSMUST00000201353] [ENSMUST00000202241] [ENSMUST00000202769]
Predicted Effect probably benign
Transcript: ENSMUST00000013771
AA Change: D339G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: D339G

DomainStartEndE-ValueType
RING 26 81 8.61e-9 SMART
BBOX 121 163 1.23e-4 SMART
Blast:BBC 170 295 1e-27 BLAST
low complexity region 331 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043475
SMART Domains Protein: ENSMUSP00000035321
Gene: ENSMUSG00000038676

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 56 62 N/A INTRINSIC
CRF 81 119 4.02e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154241
SMART Domains Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 108 175 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200744
SMART Domains Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 103 163 5.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200833
SMART Domains Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 94 116 N/A INTRINSIC
low complexity region 135 146 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200864
SMART Domains Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 174 1.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201171
Predicted Effect probably benign
Transcript: ENSMUST00000201184
SMART Domains Protein: ENSMUSP00000144390
Gene: ENSMUSG00000038676

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 56 62 N/A INTRINSIC
CRF 81 119 4.02e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201353
SMART Domains Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 174 1.7e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201750
Predicted Effect probably benign
Transcript: ENSMUST00000202241
SMART Domains Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
Pfam:Mpv17_PMP22 109 176 4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202769
AA Change: D339G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: D339G

DomainStartEndE-ValueType
RING 26 81 8.61e-9 SMART
BBOX 121 163 1.23e-4 SMART
Blast:BBC 170 295 1e-27 BLAST
low complexity region 331 348 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202836
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 finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal cardiac function but are prone to cardiac rupture after acute myocardial infarction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A C 9: 119,156,946 S17A probably benign Het
Acp1 T G 12: 30,895,949 N135T probably benign Het
Adamts2 A G 11: 50,776,269 probably benign Het
Arfgef2 C T 2: 166,868,888 probably benign Het
Atp10b T A 11: 43,194,655 I287N probably damaging Het
Camta1 T A 4: 151,453,299 K141N probably damaging Het
Carmil1 T C 13: 24,036,372 D719G probably benign Het
Cntnap5c T A 17: 58,359,234 H1086Q probably benign Het
Dsg3 A G 18: 20,537,243 probably null Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
G6pd2 A G 5: 61,809,473 Y197C probably damaging Het
Il13ra1 G T X: 36,130,594 probably benign Het
Ivl G A 3: 92,572,426 P111S probably benign Het
Kmt2a T C 9: 44,810,966 probably benign Het
Lztr1 T C 16: 17,521,484 S57P possibly damaging Het
Mtss1 T G 15: 59,058,400 D32A probably damaging Het
Mylk G A 16: 34,952,781 D1250N probably benign Het
Ncln A G 10: 81,489,965 F349L probably benign Het
Pgap1 A G 1: 54,533,413 probably benign Het
Rarres2 T C 6: 48,570,305 D107G probably benign Het
Ric3 T C 7: 109,038,718 D276G probably benign Het
Trip11 G A 12: 101,883,936 H1005Y probably damaging Het
Tulp4 G T 17: 6,213,379 probably benign Het
Unc93a C T 17: 13,109,608 E453K probably benign Het
Vmn1r181 A T 7: 23,984,602 D164V probably damaging Het
Vmn1r78 T A 7: 12,153,364 S301T probably benign Het
Vmn1r85 T C 7: 13,084,765 N151D probably benign Het
Wnk2 T C 13: 49,044,389 K2008E probably damaging Het
Wrap73 A G 4: 154,145,234 probably benign Het
Zfp408 G A 2: 91,647,808 A41V probably benign Het
Zfp472 A G 17: 32,977,571 S207G probably benign Het
Other mutations in Trim54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Trim54 APN 5 31136958 missense probably benign 0.00
IGL02393:Trim54 APN 5 31131980 splice site probably benign
IGL02545:Trim54 APN 5 31132165 splice site probably benign
IGL02664:Trim54 APN 5 31136047 missense probably damaging 1.00
IGL03160:Trim54 APN 5 31132080 missense probably damaging 0.96
R0238:Trim54 UTSW 5 31134119 missense probably benign 0.18
R0238:Trim54 UTSW 5 31134119 missense probably benign 0.18
R0617:Trim54 UTSW 5 31136182 unclassified probably null
R3624:Trim54 UTSW 5 31136976 missense possibly damaging 0.91
R3753:Trim54 UTSW 5 31134144 missense probably damaging 0.99
R6815:Trim54 UTSW 5 31134080 missense probably damaging 1.00
R7350:Trim54 UTSW 5 31137161 missense probably benign
R7575:Trim54 UTSW 5 31134087 missense possibly damaging 0.55
X0028:Trim54 UTSW 5 31117078 critical splice donor site probably null
Posted On2016-08-02