Incidental Mutation 'R3696:Trim2'
| ID |
269810 |
| 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 |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 84098158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 390
(Y390F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049902
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054990]
[ENSMUST00000065380]
[ENSMUST00000107691]
[ENSMUST00000107692]
[ENSMUST00000107693]
[ENSMUST00000107695]
[ENSMUST00000122849]
[ENSMUST00000132283]
[ENSMUST00000147901]
|
| AlphaFold |
Q9ESN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054990
AA Change: Y390F
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000049902
Gene: ENSMUSG00000027993
AA Change: Y390F
| 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 benign
Transcript: ENSMUST00000065380
AA Change: Y364F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000069922
Gene: ENSMUSG00000027993
AA Change: Y364F
| 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 benign
Transcript: ENSMUST00000107691
AA Change: Y364F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103319
Gene: ENSMUSG00000027993
AA Change: Y364F
| 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 benign
Transcript: ENSMUST00000107692
AA Change: Y364F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103320
Gene: ENSMUSG00000027993
AA Change: Y364F
| 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 benign
Transcript: ENSMUST00000107693
AA Change: Y364F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103321
Gene: ENSMUSG00000027993
AA Change: Y364F
| 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 benign
Transcript: ENSMUST00000107695
AA Change: Y381F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103323
Gene: ENSMUSG00000027993
AA Change: Y381F
| 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 benign
Transcript: ENSMUST00000122849
|
| SMART Domains |
Protein: ENSMUSP00000120981
Gene: ENSMUSG00000027993
| 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 |
noncoding transcript
Transcript: ENSMUST00000156347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140568
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132283
|
| SMART Domains |
Protein: ENSMUSP00000118888
Gene: ENSMUSG00000027993
| 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 benign
Transcript: ENSMUST00000147901
|
| SMART Domains |
Protein: ENSMUSP00000121055
Gene: ENSMUSG00000027993
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
63 |
3.5e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0972 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or1af1 |
C |
T |
2: 37,110,188 (GRCm39) |
P229L |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
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 |
|
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 |
|
|
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'- ACTTGACTCGTCGCTTCACG -3'
(R):5'- ATTTTATCGTGGAAACGGAGGGAC -3'
Sequencing Primer
(F):5'- CAGAGCGGATGACCTTGAGC -3'
(R):5'- CTGAAGAAGTCTATCCACAACCTGGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation