Incidental Mutation 'IGL00418:Trim2'
| ID |
6858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim2
|
| Ensembl Gene |
ENSMUSG00000027993 |
| Gene Name |
tripartite motif-containing 2 |
| Synonyms |
neural activity-related ring finger protein, narf |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
IGL00418
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84115596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 86
(L86P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054990]
[ENSMUST00000065380]
[ENSMUST00000107691]
[ENSMUST00000107692]
[ENSMUST00000107693]
[ENSMUST00000107695]
[ENSMUST00000122849]
[ENSMUST00000132283]
[ENSMUST00000147901]
[ENSMUST00000154152]
|
| AlphaFold |
Q9ESN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054990
AA Change: L112P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: L112P
| 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: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: L86P
| 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: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: L86P
| 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: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: L86P
| 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: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: L86P
| 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: L103P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: L103P
| 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 |
probably damaging
Transcript: ENSMUST00000122849
AA Change: L104P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993
AA Change: L104P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
41 |
81 |
3.5e-9 |
SMART |
|
BBOX
|
131 |
172 |
3.52e-14 |
SMART |
|
Blast:BBC
|
179 |
213 |
3e-15 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132283
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
BBOX
|
113 |
154 |
3.52e-14 |
SMART |
|
Blast:BBC
|
161 |
191 |
2e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147901
AA Change: L86P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993
AA Change: L86P
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154152
|
| SMART Domains |
Protein: ENSMUSP00000115914
Gene: ENSMUSG00000027993
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
39 |
70 |
9.3e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.7317 |
| Coding Region Coverage |
|
| 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 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,095,748 (GRCm39) |
I238T |
probably damaging |
Het |
| Akap4 |
T |
C |
X: 6,942,729 (GRCm39) |
V344A |
possibly damaging |
Het |
| Apex2 |
T |
C |
X: 149,355,048 (GRCm39) |
K430E |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,040,013 (GRCm39) |
A90T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,558,642 (GRCm39) |
|
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bspry |
G |
T |
4: 62,414,342 (GRCm39) |
D312Y |
probably benign |
Het |
| Cdh16 |
G |
A |
8: 105,350,045 (GRCm39) |
R5W |
probably benign |
Het |
| Ciz1 |
C |
T |
2: 32,262,400 (GRCm39) |
R461C |
probably damaging |
Het |
| Cldn14 |
T |
A |
16: 93,716,189 (GRCm39) |
D219V |
probably benign |
Het |
| Clpb |
A |
T |
7: 101,436,952 (GRCm39) |
T706S |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,276,669 (GRCm39) |
M90K |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,853 (GRCm39) |
I498F |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,385,892 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
T |
A |
3: 118,737,891 (GRCm39) |
F477L |
probably damaging |
Het |
| Dscaml1 |
C |
A |
9: 45,581,498 (GRCm39) |
S439* |
probably null |
Het |
| Faxc |
A |
G |
4: 21,958,490 (GRCm39) |
K216E |
possibly damaging |
Het |
| Fmo1 |
C |
T |
1: 162,663,815 (GRCm39) |
R238Q |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,315 (GRCm39) |
R147* |
probably null |
Het |
| H2-Ab1 |
G |
A |
17: 34,486,549 (GRCm39) |
V203M |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,060,570 (GRCm39) |
E2035G |
probably damaging |
Het |
| Hip1 |
A |
G |
5: 135,455,200 (GRCm39) |
I786T |
probably damaging |
Het |
| Homer1 |
T |
C |
13: 93,524,196 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
A |
G |
6: 68,026,971 (GRCm39) |
D2G |
possibly damaging |
Het |
| Irgm1 |
A |
T |
11: 48,756,832 (GRCm39) |
Y326* |
probably null |
Het |
| Kctd19 |
A |
T |
8: 106,115,095 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,550,469 (GRCm39) |
|
probably null |
Het |
| Mzf1 |
G |
A |
7: 12,778,543 (GRCm39) |
A287V |
possibly damaging |
Het |
| Nes |
A |
T |
3: 87,883,561 (GRCm39) |
K607* |
probably null |
Het |
| Pars2 |
T |
A |
4: 106,511,247 (GRCm39) |
V307E |
probably damaging |
Het |
| Pcsk5 |
T |
A |
19: 17,488,785 (GRCm39) |
I1012F |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,451,431 (GRCm39) |
|
probably benign |
Het |
| Rbm14 |
T |
C |
19: 4,852,576 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,594,866 (GRCm39) |
Q1905L |
probably benign |
Het |
| Slc26a2 |
A |
G |
18: 61,331,812 (GRCm39) |
F540L |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,956,640 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
T |
C |
6: 131,654,922 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
T |
A |
5: 108,793,732 (GRCm39) |
D287E |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,787,835 (GRCm39) |
K416R |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,783,544 (GRCm39) |
N240K |
probably damaging |
Het |
| Wdr90 |
A |
C |
17: 26,068,338 (GRCm39) |
I1330S |
probably damaging |
Het |
| Wfdc6a |
A |
G |
2: 164,426,914 (GRCm39) |
|
probably null |
Het |
| Zc3h12c |
C |
T |
9: 52,027,965 (GRCm39) |
V466M |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,768,543 (GRCm39) |
T1025A |
probably damaging |
Het |
|
| Other mutations in Trim2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1270:Trim2
|
UTSW |
3 |
84,074,984 (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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation