Incidental Mutation 'R8358:Trim54'
ID |
645858 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim54
|
Ensembl Gene |
ENSMUSG00000062077 |
Gene Name |
tripartite motif-containing 54 |
Synonyms |
Rnf30, 4930486E09Rik, MuRF3, 4930566I02Rik |
MMRRC Submission |
067871-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8358 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31274056-31294974 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31294338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 325
(T325A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000013771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013771]
[ENSMUST00000043475]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000200864]
[ENSMUST00000201184]
[ENSMUST00000201353]
[ENSMUST00000202241]
[ENSMUST00000202769]
|
AlphaFold |
Q9ERP3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013771
AA Change: T325A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000013771 Gene: ENSMUSG00000062077 AA Change: T325A
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 |
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 |
|
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: ENSMUST00000202769
AA Change: T325A
PolyPhen 2
Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144629 Gene: ENSMUSG00000062077 AA Change: T325A
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (49/49) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
T |
C |
16: 20,367,796 (GRCm39) |
S52P |
possibly damaging |
Het |
Adamts19 |
G |
T |
18: 59,181,881 (GRCm39) |
G1107C |
probably damaging |
Het |
Afap1 |
A |
T |
5: 36,131,830 (GRCm39) |
T386S |
probably benign |
Het |
Alg12 |
T |
C |
15: 88,695,503 (GRCm39) |
Y331C |
probably null |
Het |
Aste1 |
T |
A |
9: 105,274,255 (GRCm39) |
I165N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,167,805 (GRCm39) |
I118T |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,510,651 (GRCm39) |
V228A |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,816,668 (GRCm39) |
Y357C |
possibly damaging |
Het |
Cacul1 |
T |
A |
19: 60,551,673 (GRCm39) |
H183L |
possibly damaging |
Het |
Casp16 |
T |
A |
17: 23,772,348 (GRCm39) |
I39F |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,839,529 (GRCm39) |
C1355F |
probably damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,713,610 (GRCm39) |
|
probably null |
Het |
Ctif |
G |
A |
18: 75,698,115 (GRCm39) |
H182Y |
possibly damaging |
Het |
Cubn |
C |
T |
2: 13,329,971 (GRCm39) |
V2637I |
probably benign |
Het |
Dlx1 |
T |
A |
2: 71,360,652 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,376,457 (GRCm39) |
N1414S |
possibly damaging |
Het |
Erich6 |
A |
T |
3: 58,544,449 (GRCm39) |
L46* |
probably null |
Het |
Fcho2 |
G |
A |
13: 98,862,282 (GRCm39) |
R804* |
probably null |
Het |
Gas7 |
T |
A |
11: 67,543,734 (GRCm39) |
I114N |
probably benign |
Het |
Gpr137b |
T |
C |
13: 13,533,929 (GRCm39) |
T376A |
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,229 (GRCm39) |
M85V |
probably benign |
Het |
Klk1b16 |
T |
A |
7: 43,790,185 (GRCm39) |
C152S |
probably damaging |
Het |
Lrrc31 |
G |
A |
3: 30,753,932 (GRCm39) |
|
probably benign |
Het |
Magt1 |
C |
T |
X: 105,040,501 (GRCm39) |
A100T |
probably benign |
Het |
Mki67 |
T |
C |
7: 135,301,855 (GRCm39) |
K1060E |
possibly damaging |
Het |
Nif3l1 |
A |
T |
1: 58,491,288 (GRCm39) |
T213S |
probably benign |
Het |
Oasl1 |
T |
A |
5: 115,075,465 (GRCm39) |
F508L |
probably benign |
Het |
Or10ak8 |
A |
T |
4: 118,773,723 (GRCm39) |
*314R |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,888,976 (GRCm39) |
V173A |
possibly damaging |
Het |
Or4a80 |
C |
T |
2: 89,582,423 (GRCm39) |
V250I |
probably benign |
Het |
Or5b122 |
T |
C |
19: 13,562,764 (GRCm39) |
L32P |
probably damaging |
Het |
Psg23 |
T |
C |
7: 18,348,522 (GRCm39) |
D95G |
probably benign |
Het |
Ptprr |
T |
C |
10: 115,884,180 (GRCm39) |
I79T |
probably benign |
Het |
Resf1 |
C |
T |
6: 149,228,076 (GRCm39) |
T374I |
probably damaging |
Het |
Rhbg |
T |
A |
3: 88,152,525 (GRCm39) |
N340Y |
probably damaging |
Het |
Sash1 |
C |
A |
10: 8,605,745 (GRCm39) |
V882L |
probably benign |
Het |
Sharpin |
C |
T |
15: 76,232,197 (GRCm39) |
V220I |
probably damaging |
Het |
Slc22a22 |
T |
A |
15: 57,108,243 (GRCm39) |
D524V |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,860 (GRCm39) |
Y362H |
probably benign |
Het |
Slc4a3 |
T |
A |
1: 75,530,359 (GRCm39) |
D687E |
probably damaging |
Het |
Slco1a5 |
A |
G |
6: 142,208,411 (GRCm39) |
S127P |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,910,739 (GRCm39) |
I1213V |
possibly damaging |
Het |
Synj2 |
T |
A |
17: 6,074,080 (GRCm39) |
Y813* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,155,837 (GRCm39) |
M131T |
probably damaging |
Het |
Tnfrsf19 |
C |
A |
14: 61,208,634 (GRCm39) |
V296F |
probably benign |
Het |
Trim45 |
T |
C |
3: 100,834,634 (GRCm39) |
V439A |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,908,770 (GRCm39) |
E577G |
possibly damaging |
Het |
Uts2r |
T |
A |
11: 121,051,345 (GRCm39) |
Y70N |
probably damaging |
Het |
Vmn1r72 |
T |
G |
7: 11,404,310 (GRCm39) |
D46A |
probably damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,240,198 (GRCm39) |
V577A |
probably benign |
Het |
Zfp987 |
T |
G |
4: 146,061,343 (GRCm39) |
H258Q |
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 |
|
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 |
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'- TTTCCTTCTGACCTGGGAGG -3'
(R):5'- GGGACCGTGAGTTTGGTAAC -3'
Sequencing Primer
(F):5'- ACCTGGGAGGGGCTTGAG -3'
(R):5'- GACCGTGAGTTTGGTAACTACTCC -3'
|
Posted On |
2020-09-02 |