Incidental Mutation 'IGL03095:Trim55'
ID |
418540 |
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)
|
Stock # |
IGL03095
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
19698638-19746585 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19728629 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 480
(E480G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029139]
|
AlphaFold |
G3X8Y1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029139
AA Change: E480G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029139 Gene: ENSMUSG00000060913 AA Change: E480G
Domain | Start | End | E-Value | Type |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
Chodl |
T |
A |
16: 78,738,321 (GRCm39) |
D96E |
probably damaging |
Het |
Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
Fam149a |
T |
A |
8: 45,794,265 (GRCm39) |
E632D |
probably damaging |
Het |
Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
Ipcef1 |
A |
G |
10: 6,869,732 (GRCm39) |
S223P |
probably damaging |
Het |
Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
Lin54 |
A |
T |
5: 100,602,337 (GRCm39) |
V400E |
probably damaging |
Het |
Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
Slc25a21 |
T |
C |
12: 56,785,410 (GRCm39) |
T156A |
probably benign |
Het |
Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
Het |
|
Other mutations in Trim55 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02948:Trim55
|
APN |
3 |
19,725,116 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |