Incidental Mutation 'R7228:Trim2'
ID |
562274 |
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 |
045300-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.207)
|
Stock # |
R7228 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
84067746-84214184 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84099488 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 228
(D228G)
|
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: D228G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000049902 Gene: ENSMUSG00000027993 AA Change: D228G
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: D202G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000069922 Gene: ENSMUSG00000027993 AA Change: D202G
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: D202G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103319 Gene: ENSMUSG00000027993 AA Change: D202G
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: D202G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103320 Gene: ENSMUSG00000027993 AA Change: D202G
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: D202G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103321 Gene: ENSMUSG00000027993 AA Change: D202G
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: D219G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103323 Gene: ENSMUSG00000027993 AA Change: D219G
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 |
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
Carf |
A |
T |
1: 60,148,553 (GRCm39) |
N83I |
probably damaging |
Het |
Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
Cdc42bpb |
C |
T |
12: 111,271,527 (GRCm39) |
V1111M |
possibly damaging |
Het |
Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
Crot |
T |
A |
5: 9,026,051 (GRCm39) |
N312I |
probably damaging |
Het |
Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
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 |
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'- GCCACTGTTAGAACGCAGTAAG -3'
(R):5'- TTTTAAAGGTGATGCAAGCAGC -3'
Sequencing Primer
(F):5'- CTGTTAGAACGCAGTAAGCAGGC -3'
(R):5'- CAGCATAGTAAAAAGCGCTTGC -3'
|
Posted On |
2019-06-26 |