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
|
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| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.334)
|
|---|
| Stock # | R1270 (G1)
|
|---|
| Quality Score | 185 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 84160439-84306877 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to A
at 84167677 bp
|
|---|
| 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]
|
|---|
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
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| Meta Mutation Damage Score |
0.6028
|
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| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
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| 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]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
T |
A |
3: 36,952,184 |
H1662Q |
probably damaging |
Het |
| Abcc3 |
C |
T |
11: 94,357,384 |
R1129Q |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,527,669 |
K93M |
probably damaging |
Het |
| Aldh1a2 |
T |
G |
9: 71,281,706 |
L301V |
probably benign |
Het |
| Alg9 |
A |
G |
9: 50,787,572 |
|
probably benign |
Het |
| Aspg |
C |
T |
12: 112,116,447 |
T187I |
probably damaging |
Het |
| C4a |
A |
G |
17: 34,814,528 |
|
noncoding transcript |
Het |
| Cdh2 |
T |
G |
18: 16,627,557 |
|
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,466,314 |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,990,681 |
V1509I |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 24,857,338 |
S248P |
probably benign |
Het |
| Dgkd |
A |
T |
1: 87,934,125 |
M801L |
probably damaging |
Het |
| E330021D16Rik |
A |
T |
6: 136,401,787 |
I15N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 105,891,264 |
E1152G |
possibly damaging |
Het |
| Enkd1 |
A |
G |
8: 105,703,901 |
I334T |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,723,744 |
A803V |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,453,414 |
N95S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,233,085 |
G626R |
probably damaging |
Het |
| Kank2 |
A |
T |
9: 21,772,760 |
N724K |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 28,966,931 |
D416G |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,793,828 |
E645G |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 47,252,783 |
|
probably null |
Het |
| Muc1 |
T |
A |
3: 89,232,107 |
Y605N |
probably damaging |
Het |
| Olfr1256 |
C |
T |
2: 89,835,322 |
V208M |
possibly damaging |
Het |
| Olfr146 |
A |
C |
9: 39,019,247 |
I98R |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,518,930 |
I952N |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,368,682 |
P51S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,942,659 |
Y90* |
probably null |
Het |
| Swt1 |
A |
T |
1: 151,384,391 |
N752K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,920,533 |
V43A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,041,659 |
N1702D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,144,169 |
|
probably null |
Het |
|
|---|
| Other mutations in Trim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Trim2
|
APN |
3 |
84208289 |
missense |
probably damaging |
1.00 |
|
IGL01658:Trim2
|
APN |
3 |
84210285 |
missense |
probably benign |
0.33 |
|
IGL02943:Trim2
|
APN |
3 |
84178176 |
missense |
probably benign |
0.45 |
|
PIT4142001:Trim2
|
UTSW |
3 |
84190857 |
missense |
probably benign |
0.00 |
|
R0149:Trim2
|
UTSW |
3 |
84190776 |
missense |
probably damaging |
1.00 |
|
R0158:Trim2
|
UTSW |
3 |
84210169 |
splice site |
probably benign |
|
|
R0361:Trim2
|
UTSW |
3 |
84190776 |
missense |
probably damaging |
1.00 |
|
R1651:Trim2
|
UTSW |
3 |
84167650 |
critical splice donor site |
probably null |
|
|
R1756:Trim2
|
UTSW |
3 |
84190800 |
missense |
possibly damaging |
0.52 |
|
R1938:Trim2
|
UTSW |
3 |
84177792 |
missense |
possibly damaging |
0.94 |
|
R2046:Trim2
|
UTSW |
3 |
84208289 |
missense |
probably damaging |
1.00 |
|
R2192:Trim2
|
UTSW |
3 |
84190918 |
nonsense |
probably null |
|
|
R3696:Trim2
|
UTSW |
3 |
84190851 |
missense |
probably benign |
0.05 |
|
R4981:Trim2
|
UTSW |
3 |
84177735 |
missense |
probably damaging |
1.00 |
|
R5389:Trim2
|
UTSW |
3 |
84167653 |
missense |
probably null |
0.60 |
|
R5735:Trim2
|
UTSW |
3 |
84167722 |
missense |
probably damaging |
1.00 |
|
R7228:Trim2
|
UTSW |
3 |
84192181 |
missense |
probably benign |
0.01 |
|
R7297:Trim2
|
UTSW |
3 |
84210233 |
missense |
probably damaging |
1.00 |
|
R7640:Trim2
|
UTSW |
3 |
84190906 |
missense |
probably benign |
0.07 |
|
R7853:Trim2
|
UTSW |
3 |
84305230 |
splice site |
probably benign |
|
|
R7936:Trim2
|
UTSW |
3 |
84305230 |
splice site |
probably benign |
|
|
X0065:Trim2
|
UTSW |
3 |
84165173 |
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 |
|---|
