Incidental Mutation 'R3624:Trim54'
| ID |
269311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim54
|
| Ensembl Gene |
ENSMUSG00000062077 |
| Gene Name |
tripartite motif-containing 54 |
| Synonyms |
Rnf30, 4930486E09Rik, MuRF3, 4930566I02Rik |
| MMRRC Submission |
040678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3624 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31274056-31294974 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31294320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 319
(V319M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144629
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013771]
[ENSMUST00000043475]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000200864]
[ENSMUST00000202769]
[ENSMUST00000202241]
[ENSMUST00000201184]
[ENSMUST00000201353]
|
| AlphaFold |
Q9ERP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013771
AA Change: V319M
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000013771
Gene: ENSMUSG00000062077
AA Change: V319M
| 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 |
probably benign
Transcript: ENSMUST00000043475
|
| SMART Domains |
Protein: ENSMUSP00000035321
Gene: ENSMUSG00000038676
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201171
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202769
AA Change: V319M
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144629
Gene: ENSMUSG00000062077
AA Change: V319M
| 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 |
noncoding transcript
Transcript: ENSMUST00000202836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202241
|
| SMART Domains |
Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
176 |
4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201184
|
| SMART Domains |
Protein: ENSMUSP00000144390
Gene: ENSMUSG00000038676
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
A |
G |
11: 7,080,348 (GRCm39) |
T364A |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,790,650 (GRCm39) |
T905A |
probably damaging |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,740,244 (GRCm39) |
E104G |
possibly damaging |
Het |
| Anks1 |
T |
C |
17: 28,205,262 (GRCm39) |
F274L |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,486 (GRCm39) |
T668A |
probably benign |
Het |
| Coch |
A |
G |
12: 51,649,609 (GRCm39) |
I307V |
probably benign |
Het |
| Colec11 |
T |
C |
12: 28,644,907 (GRCm39) |
M196V |
probably benign |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| D17H6S53E |
A |
G |
17: 35,346,512 (GRCm39) |
E141G |
probably benign |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,057,241 (GRCm39) |
Q216R |
probably benign |
Het |
| Elp1 |
C |
T |
4: 56,798,708 (GRCm39) |
V85M |
possibly damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,177 (GRCm39) |
D477G |
possibly damaging |
Het |
| Esp4 |
A |
G |
17: 40,913,484 (GRCm39) |
K117R |
unknown |
Het |
| Fam186b |
A |
G |
15: 99,178,396 (GRCm39) |
L310S |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,957 (GRCm39) |
T20A |
possibly damaging |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,057,643 (GRCm39) |
G263D |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,636,700 (GRCm39) |
Y38H |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,849,798 (GRCm39) |
V35A |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,690,953 (GRCm39) |
V499D |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,740,783 (GRCm39) |
|
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,596,015 (GRCm39) |
V146A |
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,315,169 (GRCm39) |
C339Y |
probably damaging |
Het |
| Mog |
T |
C |
17: 37,323,338 (GRCm39) |
H200R |
possibly damaging |
Het |
| Nadk2 |
T |
A |
15: 9,084,303 (GRCm39) |
W139R |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,152,835 (GRCm39) |
T392A |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Racgap1 |
T |
A |
15: 99,540,772 (GRCm39) |
N26I |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,376,405 (GRCm39) |
D309G |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 38,420,201 (GRCm39) |
E17G |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Smad1 |
A |
G |
8: 80,066,327 (GRCm39) |
V450A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Spag11a |
A |
G |
8: 19,209,417 (GRCm39) |
D69G |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,090,593 (GRCm39) |
H559R |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,707,999 (GRCm39) |
Y132C |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,556 (GRCm39) |
T98A |
probably benign |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,894,601 (GRCm39) |
Y951C |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,860 (GRCm39) |
N77K |
probably damaging |
Het |
| Uhrf1 |
C |
T |
17: 56,624,023 (GRCm39) |
T482I |
probably damaging |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,790 (GRCm39) |
M49L |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,997 (GRCm39) |
R775G |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,448,753 (GRCm39) |
F474I |
probably benign |
Het |
| Zkscan8 |
C |
T |
13: 21,704,946 (GRCm39) |
R259Q |
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 |
|
IGL02393:Trim54
|
APN |
5 |
31,289,324 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATCAACAAGTGAGTGGAC -3'
(R):5'- CCATCCAAAGCCATGTCGTC -3'
Sequencing Primer
(F):5'- CAAGTGAGTGGACTGCGC -3'
(R):5'- AAAGCCATGTCGTCATCCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation