Incidental Mutation 'R0049:Trim30a'
| ID |
16034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30a
|
| Ensembl Gene |
ENSMUSG00000030921 |
| Gene Name |
tripartite motif-containing 30A |
| Synonyms |
Rpt-1, Rpt1, Trim30 |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 104078559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076922]
|
| AlphaFold |
P15533 |
| PDB Structure |
Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000076922
|
| SMART Domains |
Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
2.88e-10 |
SMART |
|
BBOX
|
91 |
132 |
3.52e-14 |
SMART |
|
coiled coil region
|
173 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
349 |
493 |
1.6e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.8681 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.7%
- 10x: 82.4%
- 20x: 74.6%
|
| Validation Efficiency |
89% (108/122) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,267 (GRCm39) |
H9L |
possibly damaging |
Het |
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,304,570 (GRCm39) |
Y2263F |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,663,734 (GRCm39) |
T498A |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,436,812 (GRCm39) |
I132F |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,278,913 (GRCm39) |
V550A |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gm10648 |
T |
C |
7: 28,561,202 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,256 (GRCm39) |
|
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,465,583 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Trav1 |
T |
A |
14: 52,666,155 (GRCm39) |
S52T |
probably damaging |
Het |
| Tro |
T |
C |
X: 149,437,565 (GRCm39) |
N364S |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
probably benign |
Het |
|
| Other mutations in Trim30a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02677:Trim30a
|
APN |
7 |
104,085,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02944:Trim30a
|
APN |
7 |
104,084,984 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03135:Trim30a
|
APN |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB009:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB019:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0049:Trim30a
|
UTSW |
7 |
104,078,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0682:Trim30a
|
UTSW |
7 |
104,078,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Trim30a
|
UTSW |
7 |
104,085,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Trim30a
|
UTSW |
7 |
104,060,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Trim30a
|
UTSW |
7 |
104,078,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Trim30a
|
UTSW |
7 |
104,060,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Trim30a
|
UTSW |
7 |
104,079,437 (GRCm39) |
splice site |
probably benign |
|
|
R2259:Trim30a
|
UTSW |
7 |
104,060,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3719:Trim30a
|
UTSW |
7 |
104,060,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3880:Trim30a
|
UTSW |
7 |
104,060,396 (GRCm39) |
missense |
probably benign |
|
|
R3910:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3911:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3912:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4343:Trim30a
|
UTSW |
7 |
104,084,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4572:Trim30a
|
UTSW |
7 |
104,060,395 (GRCm39) |
nonsense |
probably null |
|
|
R4587:Trim30a
|
UTSW |
7 |
104,084,851 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Trim30a
|
UTSW |
7 |
104,060,827 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5051:Trim30a
|
UTSW |
7 |
104,060,913 (GRCm39) |
intron |
probably benign |
|
|
R5414:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Trim30a
|
UTSW |
7 |
104,079,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Trim30a
|
UTSW |
7 |
104,070,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6262:Trim30a
|
UTSW |
7 |
104,060,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7133:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7222:Trim30a
|
UTSW |
7 |
104,070,639 (GRCm39) |
splice site |
probably null |
|
|
R7739:Trim30a
|
UTSW |
7 |
104,079,386 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7797:Trim30a
|
UTSW |
7 |
104,060,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7803:Trim30a
|
UTSW |
7 |
104,060,604 (GRCm39) |
nonsense |
probably null |
|
|
R7836:Trim30a
|
UTSW |
7 |
104,084,802 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7908:Trim30a
|
UTSW |
7 |
104,070,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Trim30a
|
UTSW |
7 |
104,061,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Trim30a
|
UTSW |
7 |
104,070,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8405:Trim30a
|
UTSW |
7 |
104,060,749 (GRCm39) |
nonsense |
probably null |
|
|
R8778:Trim30a
|
UTSW |
7 |
104,060,772 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8825:Trim30a
|
UTSW |
7 |
104,060,529 (GRCm39) |
nonsense |
probably null |
|
|
R9022:Trim30a
|
UTSW |
7 |
104,084,956 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9423:Trim30a
|
UTSW |
7 |
104,078,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Trim30a
|
UTSW |
7 |
104,078,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0012:Trim30a
|
UTSW |
7 |
104,079,410 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Trim30a
|
UTSW |
7 |
104,084,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trim30a
|
UTSW |
7 |
104,060,670 (GRCm39) |
nonsense |
probably null |
|
|
| Protein Function and Prediction |
Trim30a encodes Trim30 (alternatively, Rpt-1), a member of the tripartite-motif (TRIM) protein family (1). TRIM proteins function in the regulation of cell proliferation, differentiation, development, oncogenesis, apoptosis and antiviral responses (2). Trim30 is an intracellular protein that functions to downregulate gene expression directed by the promoter region of the gene encoding interleukin 2 receptor alpha chain and by the long terminal repeat of human immunodeficiency virus type 1 (3). Shi et al. have shown that TRIM30 is induced by TLR ligands (NF-κB-dependent) and interacts with the TAK1-TAB2-TAB3 complex (1). TRIM30 subsequently targets TAB2 and TAB3 for degradation and prevents TRAF6 autoubiquitination to negatively regulate TLR signaling (i.e., NF-κB activation) (1;4). TRIM30 is also involved in endotoxic tolerance (1). Trim30a overexpression in vivo increased survival in mice after LPS challenge (1). Hu et al. proposed that TRIM30 is involved in NLRP3 inflammasome activation (5). Knockdown of Trim30 increases ATP-induced caspase-1 activation and IL-1β production in bone marrow-derived macrophages as well as an increase in reactive oxygen species production triggered by LPS plus ATP (5). In addition, TRIM30 negatively regulates the IL-1β secretion evoked by many other NLRP3 inflammasome agonists (5). LTβR activation by activated CD4+ T cells induces TRIM30α expression and correlates with significantly lower levels of pro-inflammatory cytokine expression in vivo (4).
|
| Expression/Localization |
TRIM30 is localized to the cytoplasm (1). An ortholog (at the sequence level) of Trim30a does not seem to be present in the human genome (1).
|
| References |
1. Shi, M., Deng, W., Bi, E., Mao, K., Ji, Y., Lin, G., Wu, X., Tao, Z., Li, Z., Cai, X., Sun, S., Xiang, C., and Sun, B. (2008) TRIM30 Alpha Negatively Regulates TLR-Mediated NF-Kappa B Activation by Targeting TAB2 and TAB3 for Degradation. Nat Immunol. 9, 369-377.
3. Patarca, R., Freeman, G. J., Schwartz, J., Singh, R. P., Kong, Q. T., Murphy, E., Anderson, Y., Sheng, F. Y., Singh, P., and Johnson, K. A. (1988) Rpt-1, an Intracellular Protein from helper/inducer T Cells that Regulates Gene Expression of Interleukin 2 Receptor and Human Immunodeficiency Virus Type 1. Proc Natl Acad Sci U S A. 85, 2733-2737.
4. Wimmer, N., Huber, B., Wege, A. K., Barabas, N., Rohrl, J., Pfeffer, K., and Hehlgans, T. (2012) Lymphotoxin-Beta Receptor Activation on Macrophages Ameliorates Acute DSS-Induced Intestinal Inflammation in a TRIM30alpha-Dependent Manner. Mol Immunol. 51, 128-135.
5. Hu, Y., Mao, K., Zeng, Y., Chen, S., Tao, Z., Yang, C., Sun, S., Wu, X., Meng, G., and Sun, B. (2010) Tripartite-Motif Protein 30 Negatively Regulates NLRP3 Inflammasome Activation by Modulating Reactive Oxygen Species Production. J Immunol. 185, 7699-7705. |
| Posted On |
2013-01-08 |
| Science Writer |
Anne Murray |
Incidental Mutation