Incidental Mutation 'R8754:Trim16'
| ID |
664052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim16
|
| Ensembl Gene |
ENSMUSG00000047821 |
| Gene Name |
tripartite motif-containing 16 |
| Synonyms |
9130006M08Rik, EBBP |
| MMRRC Submission |
068620-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62731763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 545
(E545K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055006]
[ENSMUST00000072639]
[ENSMUST00000108703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055006
AA Change: E545K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: E545K
| 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
AA Change: E458K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: E458K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,798 (GRCm39) |
V329A |
probably benign |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,472 (GRCm39) |
K148N |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,913,488 (GRCm39) |
F648L |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,597,358 (GRCm39) |
D39G |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,214,984 (GRCm39) |
T477K |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,476,664 (GRCm39) |
S271T |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Chrna6 |
T |
C |
8: 27,897,229 (GRCm39) |
H216R |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Copa |
C |
T |
1: 171,935,926 (GRCm39) |
R423W |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,037 (GRCm39) |
I607R |
possibly damaging |
Het |
| Depdc5 |
A |
T |
5: 33,136,881 (GRCm39) |
T1384S |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dusp26 |
C |
T |
8: 31,581,805 (GRCm39) |
|
probably benign |
Het |
| Eif1ad13 |
T |
A |
12: 87,762,569 (GRCm39) |
N96K |
possibly damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Fuca1 |
T |
C |
4: 135,652,889 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,581,693 (GRCm39) |
V391I |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,428,175 (GRCm39) |
Y771N |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,417 (GRCm39) |
T523A |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,865 (GRCm39) |
Q58* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 941,594 (GRCm39) |
V1265A |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,829,024 (GRCm39) |
L726Q |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,912 (GRCm39) |
I247N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,897,115 (GRCm39) |
N159K |
probably benign |
Het |
| Krtap4-7 |
G |
T |
11: 99,534,667 (GRCm39) |
C65* |
probably null |
Het |
| Lama2 |
C |
T |
10: 26,877,147 (GRCm39) |
V2680M |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,088,007 (GRCm39) |
M61L |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,188,896 (GRCm39) |
M123T |
possibly damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,611 (GRCm39) |
N206S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,602,356 (GRCm39) |
N1390Y |
|
Het |
| Muc5ac |
C |
T |
7: 141,354,008 (GRCm39) |
A869V |
possibly damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,290 (GRCm39) |
V133A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,077,787 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
T |
7: 44,200,768 (GRCm39) |
A287T |
probably damaging |
Het |
| Or8c16 |
A |
T |
9: 38,130,865 (GRCm39) |
I246L |
possibly damaging |
Het |
| Patl1 |
A |
G |
19: 11,899,898 (GRCm39) |
E230G |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,355,235 (GRCm39) |
S585P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,278 (GRCm39) |
W165R |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,773,464 (GRCm39) |
D628E |
probably benign |
Het |
| Pigo |
T |
A |
4: 43,024,724 (GRCm39) |
H125L |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,847,924 (GRCm39) |
*313K |
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,846,337 (GRCm39) |
M169K |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,151,496 (GRCm38) |
I437T |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Rnf123 |
T |
A |
9: 107,948,363 (GRCm39) |
D110V |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,368,052 (GRCm39) |
F209I |
probably benign |
Het |
| Rpl4 |
A |
T |
9: 64,082,242 (GRCm39) |
N47I |
probably damaging |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,512 (GRCm39) |
F151L |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,603,191 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,126 (GRCm39) |
N80D |
probably benign |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,802 (GRCm39) |
R795L |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,521,116 (GRCm39) |
T7S |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,005 (GRCm39) |
Y834C |
probably damaging |
Het |
| Ss18 |
G |
C |
18: 14,774,016 (GRCm39) |
Q258E |
probably damaging |
Het |
| Telo2 |
G |
A |
17: 25,321,041 (GRCm39) |
L725F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,934,882 (GRCm39) |
E2497G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,163,360 (GRCm39) |
D111G |
|
Het |
| Trpm7 |
A |
G |
2: 126,664,623 (GRCm39) |
W919R |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,756,127 (GRCm39) |
S1301* |
probably null |
Het |
| Txk |
T |
C |
5: 72,889,122 (GRCm39) |
N144S |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,473,090 (GRCm39) |
V515E |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,581,162 (GRCm39) |
R3681* |
probably null |
Het |
| Ythdf3 |
A |
T |
3: 16,258,138 (GRCm39) |
N106I |
probably damaging |
Het |
| Zfp367 |
A |
T |
13: 64,292,069 (GRCm39) |
C187* |
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,603,000 (GRCm39) |
D648G |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,244,701 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,223,826 (GRCm39) |
S424P |
probably 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 |
|
R3845:Trim16
|
UTSW |
11 |
62,727,498 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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'- ATAGCTTCTCCTGGAGCATCC -3'
(R):5'- GGGAAAGTTCATTCAGGACCC -3'
Sequencing Primer
(F):5'- CCTTCAGAAGGCTCGGTATCTATG -3'
(R):5'- TTCAGGACCCACACAGTTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation