Incidental Mutation 'IGL02545:Trim54'
| ID |
297802 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim54
|
| Ensembl Gene |
ENSMUSG00000062077 |
| Gene Name |
tripartite motif-containing 54 |
| Synonyms |
Rnf30, 4930486E09Rik, MuRF3, 4930566I02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31274056-31294974 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 31289509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013771]
[ENSMUST00000202769]
|
| AlphaFold |
Q9ERP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013771
|
| SMART Domains |
Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000201750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202769
|
| SMART Domains |
Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,994 (GRCm39) |
L88P |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,590,684 (GRCm39) |
Q354* |
probably null |
Het |
| Aox3 |
A |
C |
1: 58,222,645 (GRCm39) |
D1146A |
probably damaging |
Het |
| Ap2a1 |
T |
A |
7: 44,555,850 (GRCm39) |
H340L |
probably damaging |
Het |
| Ccni |
G |
T |
5: 93,335,636 (GRCm39) |
F167L |
probably benign |
Het |
| Ctcf |
A |
G |
8: 106,391,013 (GRCm39) |
T207A |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,525,838 (GRCm39) |
H580R |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,177 (GRCm39) |
D53G |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,939,271 (GRCm39) |
L159Q |
probably damaging |
Het |
| Dync1i2 |
T |
C |
2: 71,093,095 (GRCm39) |
I630T |
possibly damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,847,715 (GRCm39) |
T202A |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,607,009 (GRCm39) |
Y214C |
probably damaging |
Het |
| Gna14 |
T |
A |
19: 16,511,090 (GRCm39) |
S46R |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,043,153 (GRCm39) |
I627T |
probably damaging |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,359 (GRCm39) |
A87V |
probably damaging |
Het |
| Itch |
G |
A |
2: 155,014,506 (GRCm39) |
|
probably null |
Het |
| Klrb1b |
T |
C |
6: 128,797,272 (GRCm39) |
Q72R |
possibly damaging |
Het |
| Lrpprc |
A |
G |
17: 85,082,853 (GRCm39) |
F144L |
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,891,011 (GRCm39) |
|
probably benign |
Het |
| Ndufa11 |
T |
A |
17: 57,028,338 (GRCm39) |
F72L |
probably damaging |
Het |
| Neu1 |
T |
A |
17: 35,150,477 (GRCm39) |
V32E |
probably benign |
Het |
| Or5k17 |
T |
A |
16: 58,746,833 (GRCm39) |
I34F |
possibly damaging |
Het |
| Osmr |
T |
C |
15: 6,853,060 (GRCm39) |
K611E |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,706,280 (GRCm39) |
V340A |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,468,998 (GRCm39) |
|
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,481,306 (GRCm39) |
W210* |
probably null |
Het |
| Ppat |
A |
G |
5: 77,063,079 (GRCm39) |
Y511H |
probably damaging |
Het |
| Psme4 |
T |
G |
11: 30,791,586 (GRCm39) |
V1147G |
possibly damaging |
Het |
| Scap |
C |
T |
9: 110,207,758 (GRCm39) |
T489I |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,654,754 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
T |
A |
12: 105,146,296 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
C |
T |
9: 73,388,357 (GRCm39) |
R2143Q |
probably damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,113 (GRCm39) |
V168D |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,655,798 (GRCm39) |
M406K |
possibly damaging |
Het |
|
| Other mutations in Trim54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Trim54
|
APN |
5 |
31,294,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02393:Trim54
|
APN |
5 |
31,289,324 (GRCm39) |
splice site |
probably benign |
|
|
IGL02664:Trim54
|
APN |
5 |
31,293,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03012:Trim54
|
APN |
5 |
31,294,489 (GRCm39) |
missense |
probably benign |
|
|
IGL03160:Trim54
|
APN |
5 |
31,289,424 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0238:Trim54
|
UTSW |
5 |
31,291,463 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0238:Trim54
|
UTSW |
5 |
31,291,463 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0617:Trim54
|
UTSW |
5 |
31,293,526 (GRCm39) |
splice site |
probably null |
|
|
R3624:Trim54
|
UTSW |
5 |
31,294,320 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3753:Trim54
|
UTSW |
5 |
31,291,488 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6815:Trim54
|
UTSW |
5 |
31,291,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Trim54
|
UTSW |
5 |
31,294,505 (GRCm39) |
missense |
probably benign |
|
|
R7575:Trim54
|
UTSW |
5 |
31,291,431 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8358:Trim54
|
UTSW |
5 |
31,294,338 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9345:Trim54
|
UTSW |
5 |
31,294,478 (GRCm39) |
missense |
probably benign |
|
|
X0028:Trim54
|
UTSW |
5 |
31,274,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation