Incidental Mutation 'R1270:Trim2'
ID |
151267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim2
|
Ensembl Gene |
ENSMUSG00000027993 |
Gene Name |
tripartite motif-containing 2 |
Synonyms |
neural activity-related ring finger protein, narf |
MMRRC Submission |
039336-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R1270 (G1)
|
Quality Score |
185 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84074984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 686
(A686V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103321
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054990]
[ENSMUST00000065380]
[ENSMUST00000107691]
[ENSMUST00000107692]
[ENSMUST00000107693]
[ENSMUST00000107695]
|
AlphaFold |
Q9ESN6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054990
AA Change: A712V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049902 Gene: ENSMUSG00000027993 AA Change: A712V
Domain | Start | End | E-Value | Type |
RING
|
49 |
89 |
3.5e-9 |
SMART |
BBOX
|
139 |
180 |
3.52e-14 |
SMART |
BBC
|
187 |
313 |
1.7e-38 |
SMART |
IG_FLMN
|
350 |
450 |
2.41e-30 |
SMART |
Pfam:NHL
|
512 |
539 |
2e-8 |
PFAM |
Pfam:NHL
|
559 |
586 |
1.1e-8 |
PFAM |
Pfam:NHL
|
601 |
628 |
2.1e-7 |
PFAM |
Pfam:NHL
|
648 |
675 |
5.8e-10 |
PFAM |
Pfam:NHL
|
695 |
722 |
3.5e-12 |
PFAM |
Pfam:NHL
|
739 |
766 |
1.2e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065380
AA Change: A686V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069922 Gene: ENSMUSG00000027993 AA Change: A686V
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107691
AA Change: A686V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103319 Gene: ENSMUSG00000027993 AA Change: A686V
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107692
AA Change: A686V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103320 Gene: ENSMUSG00000027993 AA Change: A686V
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107693
AA Change: A686V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103321 Gene: ENSMUSG00000027993 AA Change: A686V
Domain | Start | End | E-Value | Type |
RING
|
23 |
63 |
3.5e-9 |
SMART |
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
BBC
|
161 |
287 |
1.7e-38 |
SMART |
IG_FLMN
|
324 |
424 |
2.41e-30 |
SMART |
Pfam:NHL
|
486 |
513 |
8e-8 |
PFAM |
Pfam:NHL
|
533 |
560 |
6.6e-8 |
PFAM |
Pfam:NHL
|
575 |
602 |
1.1e-6 |
PFAM |
Pfam:NHL
|
622 |
649 |
5.6e-9 |
PFAM |
Pfam:NHL
|
669 |
696 |
4.1e-12 |
PFAM |
Pfam:NHL
|
713 |
740 |
5.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107695
AA Change: A703V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103323 Gene: ENSMUSG00000027993 AA Change: A703V
Domain | Start | End | E-Value | Type |
RING
|
40 |
80 |
3.5e-9 |
SMART |
BBOX
|
130 |
171 |
3.52e-14 |
SMART |
BBC
|
178 |
304 |
1.7e-38 |
SMART |
IG_FLMN
|
341 |
441 |
2.41e-30 |
SMART |
Pfam:NHL
|
503 |
530 |
9.1e-8 |
PFAM |
Pfam:NHL
|
550 |
577 |
7.5e-8 |
PFAM |
Pfam:NHL
|
592 |
619 |
1.2e-6 |
PFAM |
Pfam:NHL
|
639 |
666 |
6.3e-9 |
PFAM |
Pfam:NHL
|
686 |
713 |
4.7e-12 |
PFAM |
Pfam:NHL
|
730 |
757 |
5.8e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
Meta Mutation Damage Score |
0.6028 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
Other mutations in Trim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Trim2
|
APN |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01658:Trim2
|
APN |
3 |
84,117,592 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02943:Trim2
|
APN |
3 |
84,085,483 (GRCm39) |
missense |
probably benign |
0.45 |
PIT4142001:Trim2
|
UTSW |
3 |
84,098,164 (GRCm39) |
missense |
probably benign |
0.00 |
R0149:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R0158:Trim2
|
UTSW |
3 |
84,117,476 (GRCm39) |
splice site |
probably benign |
|
R0361:Trim2
|
UTSW |
3 |
84,098,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Trim2
|
UTSW |
3 |
84,074,957 (GRCm39) |
critical splice donor site |
probably null |
|
R1756:Trim2
|
UTSW |
3 |
84,098,107 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1938:Trim2
|
UTSW |
3 |
84,085,099 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2046:Trim2
|
UTSW |
3 |
84,115,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R2192:Trim2
|
UTSW |
3 |
84,098,225 (GRCm39) |
nonsense |
probably null |
|
R3696:Trim2
|
UTSW |
3 |
84,098,158 (GRCm39) |
missense |
probably benign |
0.05 |
R4981:Trim2
|
UTSW |
3 |
84,085,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Trim2
|
UTSW |
3 |
84,074,960 (GRCm39) |
missense |
probably null |
0.60 |
R5735:Trim2
|
UTSW |
3 |
84,075,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Trim2
|
UTSW |
3 |
84,099,488 (GRCm39) |
missense |
probably benign |
0.01 |
R7297:Trim2
|
UTSW |
3 |
84,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Trim2
|
UTSW |
3 |
84,098,213 (GRCm39) |
missense |
probably benign |
0.07 |
R7853:Trim2
|
UTSW |
3 |
84,212,537 (GRCm39) |
splice site |
probably benign |
|
R7993:Trim2
|
UTSW |
3 |
84,098,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R8205:Trim2
|
UTSW |
3 |
84,100,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R8516:Trim2
|
UTSW |
3 |
84,115,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R9056:Trim2
|
UTSW |
3 |
84,080,128 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Trim2
|
UTSW |
3 |
84,072,480 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGTGTGGAGTGTCTGGGACAAC -3'
(R):5'- CTTTGGGAACCACAAGCTACAGGAG -3'
Sequencing Primer
(F):5'- gtgtgtgtgtgtgtgGTTTTTC -3'
(R):5'- GGCTAGTATATAGACGACTTTCCTC -3'
|
Posted On |
2014-01-29 |