Incidental Mutation 'IGL02393:Trim54'
| ID |
293911 |
| 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 # |
IGL02393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31274056-31294974 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 31289324 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
| Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
| Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
| Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
| Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
| Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
| Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
| Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
| Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,811,575 (GRCm39) |
Y216C |
probably damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
| Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
| Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
| Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
| Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
| Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
| Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
| Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
| Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
| Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
| Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably 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 |
|
IGL02545:Trim54
|
APN |
5 |
31,289,509 (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