Incidental Mutation 'R8205:Trim2'
ID |
635851 |
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 |
067628-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R8205 (G1)
|
Quality Score |
215.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 84100646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 162
(A162S)
|
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 damaging
Transcript: ENSMUST00000054990
AA Change: A162S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049902 Gene: ENSMUSG00000027993 AA Change: A162S
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: A136S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069922 Gene: ENSMUSG00000027993 AA Change: A136S
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: A136S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103319 Gene: ENSMUSG00000027993 AA Change: A136S
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: A136S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103320 Gene: ENSMUSG00000027993 AA Change: A136S
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: A136S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103321 Gene: ENSMUSG00000027993 AA Change: A136S
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: A153S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103323 Gene: ENSMUSG00000027993 AA Change: A153S
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: A154S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120981 Gene: ENSMUSG00000027993 AA Change: A154S
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: A136S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118888 Gene: ENSMUSG00000027993 AA Change: A136S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
100% (52/52) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
C |
8: 41,278,080 (GRCm39) |
V157A |
probably benign |
Het |
Adamtsl1 |
A |
G |
4: 86,117,650 (GRCm39) |
*204W |
probably null |
Het |
Add2 |
A |
G |
6: 86,063,899 (GRCm39) |
E66G |
probably damaging |
Het |
Adgrd1 |
A |
G |
5: 129,192,175 (GRCm39) |
T114A |
possibly damaging |
Het |
Aldh7a1 |
A |
T |
18: 56,678,070 (GRCm39) |
I247N |
probably damaging |
Het |
Ankrd13d |
A |
T |
19: 4,331,009 (GRCm39) |
M166K |
probably damaging |
Het |
Brd7 |
A |
G |
8: 89,070,243 (GRCm39) |
F388L |
probably damaging |
Het |
Cap2 |
G |
A |
13: 46,768,739 (GRCm39) |
V182M |
probably damaging |
Het |
Col22a1 |
A |
T |
15: 71,732,918 (GRCm39) |
V1100E |
unknown |
Het |
Cracdl |
T |
C |
1: 37,664,047 (GRCm39) |
D617G |
probably benign |
Het |
Crisp2 |
T |
C |
17: 41,095,969 (GRCm39) |
E63G |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,253,685 (GRCm39) |
W2304G |
probably damaging |
Het |
Eif2a |
A |
C |
3: 58,456,156 (GRCm39) |
N385T |
probably damaging |
Het |
Eif4ebp2 |
A |
T |
10: 61,270,704 (GRCm39) |
H108Q |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,449,823 (GRCm39) |
D142G |
probably benign |
Het |
Gbp8 |
T |
A |
5: 105,198,846 (GRCm39) |
H23L |
probably benign |
Het |
Glt1d1 |
A |
G |
5: 127,768,080 (GRCm39) |
E229G |
probably benign |
Het |
Gpatch8 |
T |
C |
11: 102,371,213 (GRCm39) |
D775G |
unknown |
Het |
Heatr1 |
T |
C |
13: 12,430,928 (GRCm39) |
Y1008H |
probably benign |
Het |
Heatr5a |
T |
A |
12: 52,005,792 (GRCm39) |
N61I |
probably benign |
Het |
Hydin |
A |
T |
8: 111,319,270 (GRCm39) |
H4391L |
possibly damaging |
Het |
Ifi206 |
T |
C |
1: 173,309,450 (GRCm39) |
E182G |
|
Het |
Mbtps1 |
A |
G |
8: 120,247,077 (GRCm39) |
S789P |
probably damaging |
Het |
Mex3a |
T |
C |
3: 88,444,159 (GRCm39) |
S412P |
possibly damaging |
Het |
Msantd5f1 |
G |
A |
4: 73,605,542 (GRCm39) |
V318I |
possibly damaging |
Het |
Mup2 |
T |
A |
4: 60,137,659 (GRCm39) |
D128V |
probably benign |
Het |
Ndufaf7 |
G |
A |
17: 79,254,461 (GRCm39) |
C418Y |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,150,219 (GRCm39) |
S609G |
probably benign |
Het |
Obscn |
T |
A |
11: 58,898,697 (GRCm39) |
Y6554F |
unknown |
Het |
Odf2l |
A |
G |
3: 144,856,495 (GRCm39) |
|
probably benign |
Het |
Or14j2 |
A |
T |
17: 37,885,892 (GRCm39) |
C141S |
probably damaging |
Het |
Or1o11 |
T |
C |
17: 37,757,180 (GRCm39) |
V245A |
probably damaging |
Het |
Or4c104 |
A |
T |
2: 88,587,016 (GRCm39) |
M1K |
probably null |
Het |
Plod2 |
G |
T |
9: 92,424,371 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
A |
G |
3: 151,541,418 (GRCm39) |
V30A |
probably benign |
Het |
Pxdn |
T |
G |
12: 30,056,566 (GRCm39) |
L1259R |
probably damaging |
Het |
Rnf6 |
A |
G |
5: 146,147,714 (GRCm39) |
S435P |
probably damaging |
Het |
Sacm1l |
G |
A |
9: 123,415,724 (GRCm39) |
|
probably null |
Het |
Scgb2b26 |
T |
C |
7: 33,643,833 (GRCm39) |
T36A |
probably benign |
Het |
Slc1a7 |
A |
G |
4: 107,865,508 (GRCm39) |
N332S |
probably benign |
Het |
Slfn5 |
T |
C |
11: 82,851,544 (GRCm39) |
F614L |
probably benign |
Het |
Smad7 |
C |
A |
18: 75,527,119 (GRCm39) |
Q322K |
probably damaging |
Het |
Smap1 |
T |
C |
1: 23,888,507 (GRCm39) |
T253A |
probably benign |
Het |
Socs5 |
G |
T |
17: 87,441,138 (GRCm39) |
R26L |
probably benign |
Het |
Steap4 |
A |
T |
5: 8,026,795 (GRCm39) |
I253F |
possibly damaging |
Het |
Tacc1 |
G |
A |
8: 25,672,803 (GRCm39) |
H142Y |
probably benign |
Het |
Tent5c |
A |
G |
3: 100,380,138 (GRCm39) |
F206S |
probably benign |
Het |
Tmem117 |
G |
A |
15: 94,992,679 (GRCm39) |
M446I |
probably benign |
Het |
Trav7-6 |
G |
A |
14: 53,954,550 (GRCm39) |
D47N |
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,373,596 (GRCm39) |
I1011V |
possibly damaging |
Het |
Vmn2r98 |
T |
C |
17: 19,301,425 (GRCm39) |
V809A |
probably damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,097,071 (GRCm39) |
T418S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,356,919 (GRCm39) |
D391E |
possibly damaging |
Het |
Zfp109 |
G |
A |
7: 23,928,635 (GRCm39) |
S266F |
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 |
|
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 |
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'- CAGGAATTTCTGGGATCACATG -3'
(R):5'- TTTGGTGTCGCATGCACCTG -3'
Sequencing Primer
(F):5'- GTTATGCATACAGGCTAGCATGACC -3'
(R):5'- GTTTGAGGCCTGCCATATCAAC -3'
|
Posted On |
2020-07-13 |