Incidental Mutation 'R4347:Trim3'
| ID |
328369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim3
|
| Ensembl Gene |
ENSMUSG00000036989 |
| Gene Name |
tripartite motif-containing 3 |
| Synonyms |
BERP1, HAC1, Rnf22 |
| MMRRC Submission |
041102-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4347 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
105253670-105282778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105268594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 120
(G120D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057525]
[ENSMUST00000106789]
[ENSMUST00000106791]
[ENSMUST00000147044]
[ENSMUST00000153371]
|
| AlphaFold |
Q9R1R2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057525
AA Change: G120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989
AA Change: G120D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
BBOX
|
110 |
151 |
7.54e-14 |
SMART |
|
BBC
|
158 |
284 |
2.55e-42 |
SMART |
|
IG_FLMN
|
321 |
421 |
1.06e-31 |
SMART |
|
Pfam:NHL
|
486 |
513 |
2.5e-9 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
1.9e-9 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
5.5e-8 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
1e-10 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
1.8e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
1.9e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106789
AA Change: G120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989
AA Change: G120D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
BBOX
|
110 |
151 |
7.54e-14 |
SMART |
|
BBC
|
158 |
284 |
2.55e-42 |
SMART |
|
IG_FLMN
|
321 |
421 |
1.06e-31 |
SMART |
|
Pfam:NHL
|
486 |
513 |
1.8e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
3.9e-10 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
2.3e-7 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
3.9e-10 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
2.2e-12 |
PFAM |
|
Pfam:NHL
|
713 |
740 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106791
AA Change: G120D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989
AA Change: G120D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
BBOX
|
110 |
151 |
7.54e-14 |
SMART |
|
BBC
|
158 |
284 |
2.55e-42 |
SMART |
|
IG_FLMN
|
321 |
421 |
1.06e-31 |
SMART |
|
Pfam:NHL
|
486 |
513 |
3.4e-8 |
PFAM |
|
Pfam:NHL
|
533 |
560 |
7.6e-10 |
PFAM |
|
Pfam:NHL
|
575 |
602 |
4.4e-7 |
PFAM |
|
Pfam:NHL
|
622 |
649 |
7.6e-10 |
PFAM |
|
Pfam:NHL
|
669 |
696 |
2.7e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140882
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147044
AA Change: G120D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
AA Change: G120D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150363
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153371
AA Change: G120D
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119910
Gene: ENSMUSG00000036989
AA Change: G120D
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
BBOX
|
110 |
157 |
3.55e-10 |
SMART |
|
Blast:BBC
|
164 |
199 |
9e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211532
|
| Meta Mutation Damage Score |
0.4511 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| 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, also called the 'RING-B-box-coiled-coil' (RBCC) subgroup of RING finger proteins. 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. This protein localizes to cytoplasmic filaments. It is similar to a rat protein which is a specific partner for the tail domain of myosin V, a class of myosins which are involved in the targeted transport of organelles. The rat protein can also interact with alpha-actinin-4. Thus it is suggested that this human protein may play a role in myosin V-mediated cargo transport. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have decreased susceptibility to pharmacologically induced seizure as well as reduced miniature inhibitory synaptic current amplitude in cortical neurons. Mice homozygous for another null allele are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
C |
T |
11: 3,840,122 (GRCm39) |
V92M |
probably damaging |
Het |
| 4930503E14Rik |
C |
A |
14: 44,408,635 (GRCm39) |
R66S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,190,794 (GRCm39) |
I772N |
probably damaging |
Het |
| Acox1 |
T |
C |
11: 116,089,487 (GRCm39) |
N15S |
probably benign |
Het |
| Arhgap28 |
C |
T |
17: 68,180,137 (GRCm39) |
V233I |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,144 (GRCm39) |
I317V |
probably benign |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,347,174 (GRCm39) |
M567L |
probably damaging |
Het |
| Gal3st2b |
C |
T |
1: 93,867,530 (GRCm39) |
T59I |
probably damaging |
Het |
| Gm7135 |
T |
A |
1: 97,276,035 (GRCm39) |
|
noncoding transcript |
Het |
| Gpihbp1 |
T |
G |
15: 75,470,017 (GRCm39) |
*124G |
probably null |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,164 (GRCm39) |
R44W |
probably benign |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,760 (GRCm39) |
I19K |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,204,896 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
C |
A |
4: 149,331,691 (GRCm39) |
G545C |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,279 (GRCm39) |
S1328P |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Olfml1 |
C |
T |
7: 107,167,040 (GRCm39) |
P23L |
probably benign |
Het |
| Plekhh2 |
G |
A |
17: 84,927,130 (GRCm39) |
A1457T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,531 (GRCm39) |
I40V |
possibly damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Srek1 |
C |
T |
13: 103,885,267 (GRCm39) |
G396D |
probably null |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Usp5 |
T |
A |
6: 124,798,158 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vim |
T |
G |
2: 13,580,329 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Trim3
|
APN |
7 |
105,266,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01543:Trim3
|
APN |
7 |
105,262,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01573:Trim3
|
APN |
7 |
105,274,700 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01995:Trim3
|
APN |
7 |
105,267,689 (GRCm39) |
splice site |
probably benign |
|
|
IGL02407:Trim3
|
APN |
7 |
105,262,218 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02868:Trim3
|
APN |
7 |
105,262,239 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02837:Trim3
|
UTSW |
7 |
105,261,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Trim3
|
UTSW |
7 |
105,267,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1013:Trim3
|
UTSW |
7 |
105,267,102 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2296:Trim3
|
UTSW |
7 |
105,262,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Trim3
|
UTSW |
7 |
105,260,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4028:Trim3
|
UTSW |
7 |
105,267,452 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4383:Trim3
|
UTSW |
7 |
105,267,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4475:Trim3
|
UTSW |
7 |
105,267,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4567:Trim3
|
UTSW |
7 |
105,262,623 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4886:Trim3
|
UTSW |
7 |
105,267,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Trim3
|
UTSW |
7 |
105,268,335 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5053:Trim3
|
UTSW |
7 |
105,266,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Trim3
|
UTSW |
7 |
105,268,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Trim3
|
UTSW |
7 |
105,268,720 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5364:Trim3
|
UTSW |
7 |
105,268,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5382:Trim3
|
UTSW |
7 |
105,267,554 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5712:Trim3
|
UTSW |
7 |
105,268,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5725:Trim3
|
UTSW |
7 |
105,266,947 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5915:Trim3
|
UTSW |
7 |
105,267,182 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6058:Trim3
|
UTSW |
7 |
105,260,278 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Trim3
|
UTSW |
7 |
105,266,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Trim3
|
UTSW |
7 |
105,267,212 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6589:Trim3
|
UTSW |
7 |
105,267,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7044:Trim3
|
UTSW |
7 |
105,267,421 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7207:Trim3
|
UTSW |
7 |
105,262,583 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7326:Trim3
|
UTSW |
7 |
105,267,007 (GRCm39) |
nonsense |
probably null |
|
|
R7454:Trim3
|
UTSW |
7 |
105,268,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Trim3
|
UTSW |
7 |
105,267,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Trim3
|
UTSW |
7 |
105,262,465 (GRCm39) |
synonymous |
silent |
|
|
R8202:Trim3
|
UTSW |
7 |
105,260,632 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9343:Trim3
|
UTSW |
7 |
105,260,673 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9667:Trim3
|
UTSW |
7 |
105,267,455 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9775:Trim3
|
UTSW |
7 |
105,260,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGTCTGGTGGTACAAGGGC -3'
(R):5'- GGTCAGATGCCTCCAGAACTAC -3'
Sequencing Primer
(F):5'- TACAAGGGCTCCTGTGAGG -3'
(R):5'- TCAGAGCCTGACACTGTCCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation