Incidental Mutation 'R5725:Trim3'
| ID |
452440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim3
|
| Ensembl Gene |
ENSMUSG00000036989 |
| Gene Name |
tripartite motif-containing 3 |
| Synonyms |
BERP1, HAC1, Rnf22 |
| MMRRC Submission |
043343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5725 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105253670-105282778 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 105266947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057525]
[ENSMUST00000057525]
[ENSMUST00000106789]
[ENSMUST00000106789]
[ENSMUST00000106791]
[ENSMUST00000106791]
[ENSMUST00000147044]
[ENSMUST00000147044]
[ENSMUST00000147044]
[ENSMUST00000147044]
[ENSMUST00000153371]
|
| AlphaFold |
Q9R1R2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057525
|
| SMART Domains |
Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989
| 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 null
Transcript: ENSMUST00000057525
|
| SMART Domains |
Protein: ENSMUSP00000053384
Gene: ENSMUSG00000036989
| 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 null
Transcript: ENSMUST00000106789
|
| SMART Domains |
Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989
| 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 null
Transcript: ENSMUST00000106789
|
| SMART Domains |
Protein: ENSMUSP00000102401
Gene: ENSMUSG00000036989
| 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 null
Transcript: ENSMUST00000106791
|
| SMART Domains |
Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989
| 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 |
probably null
Transcript: ENSMUST00000106791
|
| SMART Domains |
Protein: ENSMUSP00000102403
Gene: ENSMUSG00000036989
| 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 null
Transcript: ENSMUST00000147044
|
| SMART Domains |
Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147044
|
| SMART Domains |
Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147044
|
| SMART Domains |
Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147044
|
| SMART Domains |
Protein: ENSMUSP00000114822
Gene: ENSMUSG00000036989
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
6.43e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150363
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153371
|
| SMART Domains |
Protein: ENSMUSP00000119910
Gene: ENSMUSG00000036989
| 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: ENSMUST00000154218
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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, 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
| 6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
| Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
| Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
| Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
| Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
| Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
| Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,928 (GRCm39) |
F230L |
probably benign |
Het |
| Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
| Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
| Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
| Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
| Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
| Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
| Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
| Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
| Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
| Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
| Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
| Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly damaging |
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 |
|
R4347:Trim3
|
UTSW |
7 |
105,268,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CGACTACCTGTGAGTAAGAGATGAG -3'
(R):5'- AGTGCTGCTCTATGGACAGC -3'
Sequencing Primer
(F):5'- TACCTGTGAGTAAGAGATGAGAAGGG -3'
(R):5'- TGCTCTATGGACAGCCGGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation