Incidental Mutation 'R5443:Trim39'
| ID |
427303 |
| 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 |
043008-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5443 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36569764-36582896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36571645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 371
(H371R)
|
| 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 |
probably damaging
Transcript: ENSMUST00000042717
AA Change: H363R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039790
Gene: ENSMUSG00000045409
AA Change: H363R
| 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 |
noncoding transcript
Transcript: ENSMUST00000113704
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113706
AA Change: H363R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109336
Gene: ENSMUSG00000045409
AA Change: H363R
| 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 |
noncoding transcript
Transcript: ENSMUST00000172832
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173369
AA Change: H371R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133298
Gene: ENSMUSG00000045409
AA Change: H371R
| 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 |
noncoding transcript
Transcript: ENSMUST00000173486
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173122
|
| 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 |
|
| Meta Mutation Damage Score |
0.9141 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
T |
10: 4,305,576 (GRCm39) |
E795D |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,484,745 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
G |
1: 58,273,151 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
G |
A |
15: 76,682,125 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,509,325 (GRCm39) |
E272G |
possibly damaging |
Het |
| C1qc |
G |
A |
4: 136,619,804 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
C |
A |
16: 8,482,203 (GRCm39) |
R26L |
probably benign |
Het |
| Cdh12 |
G |
T |
15: 21,237,935 (GRCm39) |
V57L |
probably benign |
Het |
| Cfap298 |
G |
T |
16: 90,724,099 (GRCm39) |
Q168K |
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,144,893 (GRCm39) |
Y23C |
probably benign |
Het |
| Crebrf |
G |
C |
17: 26,961,328 (GRCm39) |
V150L |
probably damaging |
Het |
| Ddx41 |
G |
T |
13: 55,683,104 (GRCm39) |
A201E |
probably benign |
Het |
| Doc2b |
T |
C |
11: 75,670,921 (GRCm39) |
K237E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,620 (GRCm39) |
S5199P |
probably damaging |
Het |
| Efnb2 |
A |
G |
8: 8,670,862 (GRCm39) |
I129T |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,070,712 (GRCm39) |
E2329G |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,775,622 (GRCm39) |
T27P |
possibly damaging |
Het |
| Fah |
T |
A |
7: 84,241,604 (GRCm39) |
R316W |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,064,519 (GRCm39) |
L4825P |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,381,648 (GRCm39) |
V804A |
probably damaging |
Het |
| Gm1322 |
G |
A |
2: 67,015,012 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5114 |
T |
A |
7: 39,058,289 (GRCm39) |
K443N |
probably benign |
Het |
| Gnai2 |
T |
C |
9: 107,497,386 (GRCm39) |
I3V |
probably damaging |
Het |
| Gp2 |
G |
A |
7: 119,053,821 (GRCm39) |
P47S |
possibly damaging |
Het |
| Klf15 |
C |
A |
6: 90,444,342 (GRCm39) |
Q306K |
possibly damaging |
Het |
| Ly6a2 |
A |
T |
15: 75,005,568 (GRCm39) |
|
noncoding transcript |
Het |
| Maco1 |
A |
T |
4: 134,560,619 (GRCm39) |
C121* |
probably null |
Het |
| Necab2 |
A |
T |
8: 120,195,032 (GRCm39) |
M295L |
probably benign |
Het |
| Nrg1 |
A |
T |
8: 32,339,348 (GRCm39) |
Y208N |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,256 (GRCm39) |
Y232* |
probably null |
Het |
| Oacyl |
A |
G |
18: 65,883,253 (GRCm39) |
R611G |
probably benign |
Het |
| Oasl1 |
T |
C |
5: 115,074,129 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
A |
17: 38,585,905 (GRCm39) |
M81K |
probably damaging |
Het |
| Or2y14 |
G |
T |
11: 49,405,262 (GRCm39) |
G266C |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,583 (GRCm39) |
Y52H |
probably benign |
Het |
| Or8k25 |
A |
C |
2: 86,243,937 (GRCm39) |
I153R |
possibly damaging |
Het |
| Pate4 |
A |
C |
9: 35,519,170 (GRCm39) |
S66A |
possibly damaging |
Het |
| Pigl |
T |
A |
11: 62,349,309 (GRCm39) |
C8* |
probably null |
Het |
| Plg |
G |
A |
17: 12,601,070 (GRCm39) |
A51T |
probably benign |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppig |
A |
T |
2: 69,564,635 (GRCm39) |
D97V |
probably damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,846 (GRCm39) |
K517E |
possibly damaging |
Het |
| Prr16 |
A |
T |
18: 51,436,225 (GRCm39) |
S235C |
probably damaging |
Het |
| Psmd1 |
G |
A |
1: 86,017,905 (GRCm39) |
R572H |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,135 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
A |
T |
2: 151,924,043 (GRCm39) |
Y25F |
probably benign |
Het |
| Sema6d |
A |
T |
2: 124,498,756 (GRCm39) |
H222L |
probably damaging |
Het |
| Septin2 |
A |
G |
1: 93,425,174 (GRCm39) |
N110S |
possibly damaging |
Het |
| Shpk |
G |
A |
11: 73,113,607 (GRCm39) |
G340D |
possibly damaging |
Het |
| Smg5 |
T |
A |
3: 88,261,896 (GRCm39) |
L723H |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spo11 |
T |
C |
2: 172,831,152 (GRCm39) |
|
probably benign |
Het |
| Srarp |
T |
A |
4: 141,163,388 (GRCm39) |
|
probably null |
Het |
| Tbc1d5 |
A |
G |
17: 51,042,995 (GRCm39) |
I831T |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,363,607 (GRCm39) |
Y109F |
probably damaging |
Het |
| Tpcn2 |
A |
T |
7: 144,809,209 (GRCm39) |
M699K |
possibly damaging |
Het |
| Trim34a |
T |
C |
7: 103,909,420 (GRCm39) |
F289S |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,348,532 (GRCm39) |
I11N |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,345,108 (GRCm39) |
F677L |
probably benign |
Het |
| Zer1 |
C |
T |
2: 30,001,008 (GRCm39) |
G138S |
probably damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,227 (GRCm39) |
K439R |
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 |
|
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'- TCACCTTGATGTGCAAAGGG -3'
(R):5'- GGACGTTTAGCTATTCCCATCC -3'
Sequencing Primer
(F):5'- CCTTGATGTGCAAAGGGGTAAAAG -3'
(R):5'- CATCTAGCTCCACTCTGGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation