Incidental Mutation 'R8433:Trim39'
| ID |
653867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim39
|
| Ensembl Gene |
ENSMUSG00000045409 |
| Gene Name |
tripartite motif-containing 39 |
| Synonyms |
1100001D15Rik, RING-B box-coiled-coil-B30.2, E130103K13Rik, Rnf23, tfp, RBCC-B30.2 |
| MMRRC Submission |
067823-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36571597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 387
(V387A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025319]
[ENSMUST00000042717]
[ENSMUST00000077535]
[ENSMUST00000113706]
[ENSMUST00000172573]
[ENSMUST00000173369]
[ENSMUST00000173665]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025319
|
| SMART Domains |
Protein: ENSMUSP00000025319
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rpr2
|
13 |
96 |
1.2e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042717
AA Change: V379A
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: V379A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
RING
|
29 |
69 |
1.9e-10 |
SMART |
|
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
|
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
|
PRY
|
306 |
359 |
2.3e-27 |
SMART |
|
SPRY
|
360 |
485 |
1.95e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077535
|
| SMART Domains |
Protein: ENSMUSP00000076739
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113706
AA Change: V379A
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: V379A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
RING
|
29 |
69 |
1.9e-10 |
SMART |
|
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
|
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
|
PRY
|
306 |
359 |
2.3e-27 |
SMART |
|
SPRY
|
360 |
485 |
1.95e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172573
|
| SMART Domains |
Protein: ENSMUSP00000133400
Gene: ENSMUSG00000024446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rpr2
|
1 |
48 |
4.4e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173369
AA Change: V387A
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: V387A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
RING
|
29 |
69 |
1.9e-10 |
SMART |
|
BBOX
|
102 |
143 |
3.21e-8 |
SMART |
|
coiled coil region
|
184 |
240 |
N/A |
INTRINSIC |
|
PRY
|
314 |
367 |
1.23e-27 |
SMART |
|
SPRY
|
368 |
493 |
1.95e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173665
|
| SMART Domains |
Protein: ENSMUSP00000133529
Gene: ENSMUSG00000045409
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
1 |
40 |
5.81e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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 function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armh1 |
A |
G |
4: 117,085,535 (GRCm39) |
V227A |
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,276 (GRCm39) |
Y57N |
probably damaging |
Het |
| Chtf18 |
A |
G |
17: 25,945,918 (GRCm39) |
S90P |
probably benign |
Het |
| Eral1 |
A |
G |
11: 77,966,309 (GRCm39) |
S290P |
probably benign |
Het |
| Foxk1 |
T |
C |
5: 142,434,539 (GRCm39) |
F268L |
probably benign |
Het |
| Gsta3 |
A |
G |
1: 21,335,172 (GRCm39) |
K218E |
probably benign |
Het |
| Mapk8ip2 |
G |
A |
15: 89,342,069 (GRCm39) |
A427T |
probably benign |
Het |
| Mtch2 |
T |
A |
2: 90,677,505 (GRCm39) |
|
probably benign |
Het |
| Ndufc1 |
A |
G |
3: 51,316,311 (GRCm39) |
L14P |
probably damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,991 (GRCm39) |
I112N |
probably benign |
Het |
| Or56a3b |
T |
C |
7: 104,770,931 (GRCm39) |
F89S |
probably damaging |
Het |
| Or8k53 |
G |
A |
2: 86,177,144 (GRCm39) |
P322L |
unknown |
Het |
| Parn |
C |
A |
16: 13,485,413 (GRCm39) |
D28Y |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,627,759 (GRCm39) |
G229R |
probably damaging |
Het |
| Prpf3 |
A |
G |
3: 95,758,963 (GRCm39) |
V63A |
probably damaging |
Het |
| Ptger3 |
A |
C |
3: 157,349,592 (GRCm39) |
*363C |
probably null |
Het |
| Rnf6 |
A |
G |
5: 146,148,088 (GRCm39) |
V310A |
probably damaging |
Het |
| Scarf1 |
G |
A |
11: 75,411,858 (GRCm39) |
|
probably null |
Het |
| Slc5a6 |
G |
A |
5: 31,194,806 (GRCm39) |
A530V |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,194,913 (GRCm39) |
R99W |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,170,822 (GRCm39) |
C406R |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,924,790 (GRCm39) |
S1452L |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,722,056 (GRCm39) |
E216G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,677,187 (GRCm39) |
K2039* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,718,600 (GRCm39) |
L464I |
possibly damaging |
Het |
| Wdr35 |
G |
A |
12: 9,058,495 (GRCm39) |
D562N |
probably damaging |
Het |
| Zfp541 |
C |
T |
7: 15,805,999 (GRCm39) |
L45F |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,844,007 (GRCm39) |
Y1015C |
possibly damaging |
Het |
|
| Other mutations in Trim39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01458:Trim39
|
APN |
17 |
36,574,855 (GRCm39) |
splice site |
probably benign |
|
|
IGL01462:Trim39
|
APN |
17 |
36,574,617 (GRCm39) |
splice site |
probably benign |
|
|
IGL02243:Trim39
|
APN |
17 |
36,571,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Trim39
|
APN |
17 |
36,571,463 (GRCm39) |
missense |
probably damaging |
0.99 |
|
barba
|
UTSW |
17 |
36,579,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rossa
|
UTSW |
17 |
36,571,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Trim39
|
UTSW |
17 |
36,579,862 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0458:Trim39
|
UTSW |
17 |
36,572,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0569:Trim39
|
UTSW |
17 |
36,574,623 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1565:Trim39
|
UTSW |
17 |
36,579,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Trim39
|
UTSW |
17 |
36,574,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Trim39
|
UTSW |
17 |
36,579,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2009:Trim39
|
UTSW |
17 |
36,574,646 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2568:Trim39
|
UTSW |
17 |
36,580,056 (GRCm39) |
unclassified |
probably benign |
|
|
R5206:Trim39
|
UTSW |
17 |
36,571,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Trim39
|
UTSW |
17 |
36,571,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6481:Trim39
|
UTSW |
17 |
36,579,554 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7132:Trim39
|
UTSW |
17 |
36,571,547 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7563:Trim39
|
UTSW |
17 |
36,571,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7739:Trim39
|
UTSW |
17 |
36,571,396 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9200:Trim39
|
UTSW |
17 |
36,579,667 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9468:Trim39
|
UTSW |
17 |
36,571,492 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGTAGATATGTGAACGGTC -3'
(R):5'- TAACCTCGTCCTGTCAGAGG -3'
Sequencing Primer
(F):5'- CAGTGTGCCAGCCTCATAGTCTAG -3'
(R):5'- TCCTGTCAGAGGATCGGAAAAGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation