Incidental Mutation 'IGL01012:Trim54'
ID53563
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 #IGL01012
Quality Score
Status
Chromosome5
Chromosomal Location31116712-31137630 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 31136958 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 313 (S313A)
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: S313A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: S313A

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: S313A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: S313A

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,839,701 M249K possibly damaging Het
Adamtsl1 T C 4: 86,342,189 F879S possibly damaging Het
Afap1l2 T C 19: 56,930,261 E30G probably damaging Het
Aqp9 A G 9: 71,130,549 probably benign Het
Arhgap17 A T 7: 123,286,568 probably benign Het
Arhgef10 T C 8: 14,979,977 S921P probably damaging Het
Atp6v0e2 T C 6: 48,537,815 I22T probably damaging Het
AY074887 C T 9: 54,950,679 probably benign Het
Bcl2l15 T A 3: 103,833,414 D65E probably damaging Het
C2cd6 A T 1: 58,997,348 probably benign Het
Ccdc138 G A 10: 58,540,915 probably null Het
Ccdc7b A G 8: 129,178,357 T159A possibly damaging Het
Ccser1 A G 6: 61,638,490 T659A probably benign Het
Cd300ld2 T A 11: 115,012,297 I241F probably benign Het
Cep192 T A 18: 67,812,406 N192K possibly damaging Het
Csmd1 T C 8: 15,917,341 K3174R probably benign Het
Dpy30 A T 17: 74,307,754 L65I probably damaging Het
Eci2 A T 13: 34,990,329 L83* probably null Het
F7 A T 8: 13,033,409 E183V probably damaging Het
Fam192a G A 8: 94,587,362 R104W probably damaging Het
Gabrg1 T C 5: 70,778,169 K214R probably benign Het
Galr2 A T 11: 116,283,170 T209S probably damaging Het
Gimap9 T C 6: 48,677,917 probably null Het
Gip C A 11: 96,025,459 F28L probably benign Het
Gpd2 A G 2: 57,364,530 N662S probably benign Het
Grik2 T G 10: 49,272,956 D511A probably damaging Het
Ift122 T A 6: 115,899,491 Y563N probably damaging Het
Ipo8 A G 6: 148,789,063 probably benign Het
Islr T C 9: 58,157,228 E332G probably damaging Het
Itgb7 G A 15: 102,227,585 S5L probably benign Het
Itpr2 G A 6: 146,345,161 R1087W probably damaging Het
Katnal2 C A 18: 77,017,554 V66F probably damaging Het
Krt81 T C 15: 101,461,019 D284G probably benign Het
Krtap4-8 T A 11: 99,780,005 probably benign Het
Map1s C A 8: 70,913,910 N486K probably benign Het
Med13l G A 5: 118,734,028 D842N probably damaging Het
Mef2c T A 13: 83,655,595 M306K probably damaging Het
Myb C T 10: 21,146,260 V377I probably benign Het
Myocd C T 11: 65,184,625 G558R possibly damaging Het
Nars G T 18: 64,504,968 A305E probably damaging Het
Neb A T 2: 52,196,361 N5233K probably benign Het
Nipsnap2 T C 5: 129,746,439 I181T possibly damaging Het
Olfr1496 T C 19: 13,781,573 probably benign Het
Olfr960 A T 9: 39,623,365 M81L probably benign Het
P3h2 A C 16: 25,987,248 C282G probably damaging Het
Pcgf5 T A 19: 36,442,868 C167S probably damaging Het
Pck2 T C 14: 55,544,069 probably benign Het
Peli2 C T 14: 48,252,730 R169* probably null Het
Pramef25 T A 4: 143,950,214 probably benign Het
Ralgapa2 T A 2: 146,421,739 Q686L possibly damaging Het
Scap C A 9: 110,362,420 P50H probably damaging Het
Sh3rf2 T A 18: 42,054,192 D125E possibly damaging Het
Slc25a38 T C 9: 120,116,494 probably benign Het
Slc35a5 A G 16: 45,143,832 V346A probably damaging Het
Smad4 T A 18: 73,675,809 N129I probably damaging Het
Sod2 C T 17: 13,013,577 A163V possibly damaging Het
Spred3 T A 7: 29,161,523 probably benign Het
Stag1 C A 9: 100,855,859 A423E possibly damaging Het
Stk17b A T 1: 53,761,037 S261T probably benign Het
Stx3 T C 19: 11,791,788 K58E probably damaging Het
Timm10b C A 7: 105,641,138 Y79* probably null Het
Tmem204 T C 17: 25,070,355 D97G probably damaging Het
Tnfrsf25 T C 4: 152,118,428 V181A probably benign Het
Unc79 T A 12: 103,112,455 D1433E probably damaging Het
Vmn2r23 A G 6: 123,729,596 T462A probably benign Het
Wdr27 T A 17: 14,926,247 H162L probably damaging Het
Other mutations in Trim54
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03012:Trim54 APN 5 31137145 missense probably benign
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 On2013-06-28