Incidental Mutation 'R3845:Trim16'
| ID |
277338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim16
|
| Ensembl Gene |
ENSMUSG00000047821 |
| Gene Name |
tripartite motif-containing 16 |
| Synonyms |
9130006M08Rik, EBBP |
| MMRRC Submission |
040893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 62727498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055006]
[ENSMUST00000072639]
[ENSMUST00000108703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055006
|
| SMART Domains |
Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
64 |
113 |
6e-24 |
BLAST |
|
BBOX
|
117 |
157 |
3.24e-4 |
SMART |
|
coiled coil region
|
171 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
265 |
N/A |
INTRINSIC |
|
PRY
|
364 |
417 |
1.41e-22 |
SMART |
|
SPRY
|
418 |
543 |
6.4e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072639
|
| SMART Domains |
Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
64 |
113 |
5e-24 |
BLAST |
|
BBOX
|
117 |
157 |
3.24e-4 |
SMART |
|
coiled coil region
|
171 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
265 |
N/A |
INTRINSIC |
|
PRY
|
364 |
417 |
1.41e-22 |
SMART |
|
Pfam:SPRY
|
418 |
483 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108703
|
| SMART Domains |
Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
1 |
26 |
9e-10 |
BLAST |
|
BBOX
|
30 |
70 |
3.24e-4 |
SMART |
|
coiled coil region
|
84 |
109 |
N/A |
INTRINSIC |
|
coiled coil region
|
150 |
178 |
N/A |
INTRINSIC |
|
PRY
|
277 |
330 |
1.41e-22 |
SMART |
|
SPRY
|
331 |
456 |
6.4e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128623
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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 tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,416,540 (GRCm39) |
N439S |
probably null |
Het |
| AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
| Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,407,003 (GRCm39) |
I217T |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
| Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
| Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
| Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
| Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,024,983 (GRCm39) |
E620G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
| Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
| Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
| Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,187,122 (GRCm39) |
V109A |
possibly damaging |
Het |
| Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
| Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,293,953 (GRCm39) |
V680D |
possibly damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly damaging |
Het |
|
| Other mutations in Trim16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Trim16
|
APN |
11 |
62,728,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL01060:Trim16
|
APN |
11 |
62,711,530 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01568:Trim16
|
APN |
11 |
62,711,684 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01659:Trim16
|
APN |
11 |
62,711,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02519:Trim16
|
APN |
11 |
62,724,905 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02662:Trim16
|
APN |
11 |
62,731,383 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
FR4589:Trim16
|
UTSW |
11 |
62,711,521 (GRCm39) |
intron |
probably benign |
|
|
FR4976:Trim16
|
UTSW |
11 |
62,711,515 (GRCm39) |
intron |
probably benign |
|
|
R0007:Trim16
|
UTSW |
11 |
62,719,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0007:Trim16
|
UTSW |
11 |
62,719,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0346:Trim16
|
UTSW |
11 |
62,731,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0410:Trim16
|
UTSW |
11 |
62,711,297 (GRCm39) |
start gained |
probably benign |
|
|
R1725:Trim16
|
UTSW |
11 |
62,711,331 (GRCm39) |
start codon destroyed |
possibly damaging |
0.91 |
|
R3879:Trim16
|
UTSW |
11 |
62,731,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Trim16
|
UTSW |
11 |
62,727,638 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5344:Trim16
|
UTSW |
11 |
62,711,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Trim16
|
UTSW |
11 |
62,731,695 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7490:Trim16
|
UTSW |
11 |
62,724,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Trim16
|
UTSW |
11 |
62,711,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Trim16
|
UTSW |
11 |
62,727,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8439:Trim16
|
UTSW |
11 |
62,741,414 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8754:Trim16
|
UTSW |
11 |
62,731,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9581:Trim16
|
UTSW |
11 |
62,727,557 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9599:Trim16
|
UTSW |
11 |
62,731,644 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9789:Trim16
|
UTSW |
11 |
62,720,026 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0026:Trim16
|
UTSW |
11 |
62,719,963 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Trim16
|
UTSW |
11 |
62,711,518 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1187:Trim16
|
UTSW |
11 |
62,711,521 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,711,520 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1188:Trim16
|
UTSW |
11 |
62,711,521 (GRCm39) |
intron |
probably benign |
|
|
Z1188:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Trim16
|
UTSW |
11 |
62,711,520 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,711,517 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1190:Trim16
|
UTSW |
11 |
62,711,521 (GRCm39) |
intron |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,711,519 (GRCm39) |
intron |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1191:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1192:Trim16
|
UTSW |
11 |
62,711,428 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trim16
|
UTSW |
11 |
62,731,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Trim16
|
UTSW |
11 |
62,731,572 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Trim16
|
UTSW |
11 |
62,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Trim16
|
UTSW |
11 |
62,711,521 (GRCm39) |
intron |
probably benign |
|
|
Z1192:Trim16
|
UTSW |
11 |
62,711,516 (GRCm39) |
intron |
probably benign |
|
|
Z1192:Trim16
|
UTSW |
11 |
62,711,502 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCTCTGTGCCCAGTCTG -3'
(R):5'- GAAATGGGTCACTTCCCCTC -3'
Sequencing Primer
(F):5'- GTAGGGTCACAGTAGTTCTCAACC -3'
(R):5'- AAAGCGCCTCACCTTCCCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation