Incidental Mutation 'R2009:Trim39'
| ID |
219401 |
| 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 |
040018-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36574646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 252
(L252S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042717]
[ENSMUST00000113706]
[ENSMUST00000173369]
[ENSMUST00000173665]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042717
AA Change: L252S
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: L252S
| 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 |
noncoding transcript
Transcript: ENSMUST00000113704
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113706
AA Change: L252S
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: L252S
| 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 |
noncoding transcript
Transcript: ENSMUST00000172832
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173369
AA Change: L252S
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: L252S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174197
|
| Meta Mutation Damage Score |
0.0782 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,833,433 (GRCm39) |
D34V |
probably benign |
Het |
| Adgrf1 |
A |
T |
17: 43,632,112 (GRCm39) |
R884* |
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,582,236 (GRCm39) |
T301A |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,530,988 (GRCm39) |
I1366T |
probably damaging |
Het |
| C1s2 |
A |
T |
6: 124,612,048 (GRCm39) |
L112H |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,042,391 (GRCm39) |
|
noncoding transcript |
Het |
| Cfap74 |
G |
A |
4: 155,504,724 (GRCm39) |
R103H |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,797,943 (GRCm39) |
|
probably null |
Het |
| Dmp1 |
A |
G |
5: 104,360,706 (GRCm39) |
S461G |
probably damaging |
Het |
| Eif4g2 |
A |
T |
7: 110,673,405 (GRCm39) |
D753E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etv4 |
T |
C |
11: 101,665,063 (GRCm39) |
D130G |
probably damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,734,119 (GRCm39) |
I533N |
probably damaging |
Het |
| Gne |
T |
C |
4: 44,055,273 (GRCm39) |
E234G |
probably benign |
Het |
| Itga6 |
C |
A |
2: 71,647,025 (GRCm39) |
N78K |
probably benign |
Het |
| Lap3 |
C |
T |
5: 45,650,899 (GRCm39) |
T33M |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,564 (GRCm39) |
S88G |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,380,385 (GRCm39) |
T3922K |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,971,517 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
T |
C |
18: 10,812,118 (GRCm39) |
L263S |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,216,427 (GRCm39) |
S1474G |
probably benign |
Het |
| Nkapl |
A |
C |
13: 21,651,607 (GRCm39) |
S335R |
probably damaging |
Het |
| Nrg3 |
A |
G |
14: 38,092,771 (GRCm39) |
S605P |
probably damaging |
Het |
| Or10x4 |
G |
T |
1: 174,218,995 (GRCm39) |
R120L |
possibly damaging |
Het |
| Or52b3 |
A |
G |
7: 102,204,151 (GRCm39) |
Y220C |
probably damaging |
Het |
| Patj |
G |
A |
4: 98,344,406 (GRCm39) |
D577N |
probably damaging |
Het |
| Pfpl |
A |
C |
19: 12,407,319 (GRCm39) |
K523N |
possibly damaging |
Het |
| Pik3c2a |
A |
C |
7: 115,963,738 (GRCm39) |
L924R |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,144,403 (GRCm39) |
R278L |
probably benign |
Het |
| Prss2 |
A |
T |
6: 41,500,910 (GRCm39) |
I108F |
probably damaging |
Het |
| Rnase2b |
A |
G |
14: 51,400,347 (GRCm39) |
T143A |
possibly damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Sphk2 |
A |
T |
7: 45,360,437 (GRCm39) |
H522Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,235,261 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
A |
11: 69,288,602 (GRCm39) |
A106S |
probably damaging |
Het |
| Trappc14 |
C |
A |
5: 138,259,191 (GRCm39) |
C434F |
probably damaging |
Het |
| Trim60 |
T |
A |
8: 65,453,975 (GRCm39) |
E91D |
probably damaging |
Het |
| Trpm5 |
A |
G |
7: 142,641,475 (GRCm39) |
I145T |
possibly damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,729 (GRCm39) |
M761L |
probably benign |
Het |
| Wdr4 |
G |
A |
17: 31,719,584 (GRCm39) |
|
probably benign |
Het |
| Wfs1 |
A |
T |
5: 37,125,653 (GRCm39) |
S413T |
probably damaging |
Het |
| Wnt2 |
A |
T |
6: 18,030,208 (GRCm39) |
W27R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,651,158 (GRCm39) |
H687Q |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,951 (GRCm39) |
P308L |
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 |
|
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 |
|
R8433:Trim39
|
UTSW |
17 |
36,571,597 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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'- ATAGAAACCTGAGCTGCCCC -3'
(R):5'- TCTCAGAGACTGGTGGAGAG -3'
Sequencing Primer
(F):5'- GCTGCCCCGCTCTAGAAAAATG -3'
(R):5'- CGCCGGCAGCAGATCTTAAAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation