Incidental Mutation 'R6919:Trim16'
ID |
539518 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim16
|
Ensembl Gene |
ENSMUSG00000047821 |
Gene Name |
tripartite motif-containing 16 |
Synonyms |
9130006M08Rik, EBBP |
MMRRC Submission |
045039-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6919 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62731695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 435
(V435D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055006]
[ENSMUST00000072639]
[ENSMUST00000108703]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055006
AA Change: V522D
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000055542 Gene: ENSMUSG00000047821 AA Change: V522D
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 |
possibly damaging
Transcript: ENSMUST00000108703
AA Change: V435D
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104343 Gene: ENSMUSG00000047821 AA Change: V435D
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 |
|
Meta Mutation Damage Score |
0.4153 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
99% (84/85) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700086D15Rik |
A |
G |
11: 65,043,356 (GRCm39) |
|
probably benign |
Het |
6430548M08Rik |
T |
C |
8: 120,872,221 (GRCm39) |
S50P |
probably damaging |
Het |
Aacs |
A |
G |
5: 125,583,227 (GRCm39) |
D261G |
probably benign |
Het |
Abcc4 |
T |
A |
14: 118,832,306 (GRCm39) |
T775S |
probably benign |
Het |
Acsl6 |
A |
G |
11: 54,232,582 (GRCm39) |
|
probably null |
Het |
Agbl5 |
T |
A |
5: 31,062,061 (GRCm39) |
F196I |
probably benign |
Het |
Ahnak2 |
T |
C |
12: 112,741,118 (GRCm39) |
T985A |
possibly damaging |
Het |
Ak1 |
A |
T |
2: 32,521,134 (GRCm39) |
D101V |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,861,061 (GRCm39) |
Y156H |
probably damaging |
Het |
Angptl7 |
T |
A |
4: 148,584,488 (GRCm39) |
S87C |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,579,299 (GRCm39) |
T188A |
probably benign |
Het |
Arhgap11a |
A |
C |
2: 113,670,054 (GRCm39) |
S356R |
possibly damaging |
Het |
Ascc3 |
G |
T |
10: 50,521,849 (GRCm39) |
E455* |
probably null |
Het |
Atp6v0a2 |
G |
A |
5: 124,789,225 (GRCm39) |
|
probably null |
Het |
B3gnt7 |
T |
C |
1: 86,233,416 (GRCm39) |
W104R |
probably damaging |
Het |
Bbs9 |
G |
A |
9: 22,723,840 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
T |
A |
5: 43,860,557 (GRCm39) |
D544E |
probably benign |
Het |
Cic |
C |
T |
7: 24,971,202 (GRCm39) |
T311I |
probably benign |
Het |
Cngb1 |
T |
A |
8: 95,975,003 (GRCm39) |
R1157W |
probably null |
Het |
Cntln |
A |
G |
4: 85,033,605 (GRCm39) |
H1310R |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,600,948 (GRCm39) |
I764F |
probably benign |
Het |
Col26a1 |
T |
C |
5: 136,773,088 (GRCm39) |
Q362R |
possibly damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,279,585 (GRCm39) |
R100K |
probably benign |
Het |
D17H6S53E |
C |
G |
17: 35,346,222 (GRCm39) |
D44E |
probably damaging |
Het |
Dap3 |
A |
G |
3: 88,838,296 (GRCm39) |
V65A |
probably damaging |
Het |
Dna2 |
A |
T |
10: 62,792,782 (GRCm39) |
I266F |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,412,631 (GRCm39) |
G57E |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,880,564 (GRCm39) |
V333E |
probably benign |
Het |
Dpm1 |
A |
G |
2: 168,072,195 (GRCm39) |
Y27H |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,351,631 (GRCm39) |
Y150F |
possibly damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,018 (GRCm39) |
I577N |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,819,552 (GRCm39) |
T189A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,173,597 (GRCm39) |
I2372T |
possibly damaging |
Het |
Fbn2 |
A |
T |
18: 58,257,259 (GRCm39) |
|
probably null |
Het |
Gnl1 |
A |
T |
17: 36,298,425 (GRCm39) |
R390* |
probably null |
Het |
Hivep1 |
A |
G |
13: 42,336,928 (GRCm39) |
I2336V |
probably benign |
Het |
Il17rb |
C |
G |
14: 29,726,228 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,716,883 (GRCm39) |
W396R |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,098,734 (GRCm39) |
V152A |
probably benign |
Het |
Kcnk3 |
A |
G |
5: 30,779,744 (GRCm39) |
T265A |
probably benign |
Het |
Klhl1 |
T |
C |
14: 96,374,030 (GRCm39) |
Y672C |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,146,625 (GRCm39) |
N412K |
possibly damaging |
Het |
Lrrc9 |
T |
A |
12: 72,553,167 (GRCm39) |
F1356L |
probably benign |
Het |
Map7 |
A |
G |
10: 20,046,828 (GRCm39) |
|
probably benign |
Het |
Mei1 |
T |
C |
15: 81,966,131 (GRCm39) |
F251S |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,176,681 (GRCm39) |
E9G |
possibly damaging |
Het |
Ms4a13 |
C |
A |
19: 11,149,249 (GRCm39) |
W182C |
probably benign |
Het |
Muc16 |
C |
T |
9: 18,571,595 (GRCm39) |
R308K |
unknown |
Het |
Or4c103 |
G |
A |
2: 88,514,028 (GRCm39) |
T16I |
possibly damaging |
Het |
Or8g22 |
A |
G |
9: 38,958,827 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
G |
10: 76,221,632 (GRCm39) |
V1998A |
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,254,368 (GRCm39) |
N51I |
probably benign |
Het |
Piezo1 |
T |
A |
8: 123,217,020 (GRCm39) |
H1333L |
probably damaging |
Het |
Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
Prss51 |
T |
C |
14: 64,334,937 (GRCm39) |
V182A |
probably damaging |
Het |
Psmb9 |
A |
T |
17: 34,402,199 (GRCm39) |
Y132* |
probably null |
Het |
Ralyl |
T |
C |
3: 13,842,091 (GRCm39) |
Y76H |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,349,114 (GRCm39) |
D174E |
probably benign |
Het |
Rnft1 |
G |
A |
11: 86,386,156 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,758,755 (GRCm39) |
Y676C |
probably damaging |
Het |
Samd9l |
T |
G |
6: 3,376,313 (GRCm39) |
Y316S |
possibly damaging |
Het |
Siah3 |
T |
A |
14: 75,693,578 (GRCm39) |
F28Y |
possibly damaging |
Het |
Slc28a3 |
C |
T |
13: 58,721,257 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,696,301 (GRCm39) |
F911S |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,015 (GRCm39) |
Y1055C |
probably benign |
Het |
Speg |
T |
A |
1: 75,364,552 (GRCm39) |
L156* |
probably null |
Het |
Spopl |
T |
G |
2: 23,407,873 (GRCm39) |
M269L |
probably benign |
Het |
Tacr1 |
C |
T |
6: 82,534,054 (GRCm39) |
T360I |
probably benign |
Het |
Tasor |
T |
A |
14: 27,171,758 (GRCm39) |
L397* |
probably null |
Het |
Tmem262 |
A |
G |
19: 6,130,767 (GRCm39) |
E95G |
probably benign |
Het |
Tmem68 |
G |
T |
4: 3,569,669 (GRCm39) |
T7N |
possibly damaging |
Het |
Top3a |
T |
A |
11: 60,640,319 (GRCm39) |
I460F |
probably damaging |
Het |
Trafd1 |
G |
A |
5: 121,522,137 (GRCm39) |
R5* |
probably null |
Het |
Tspan17 |
A |
G |
13: 54,943,846 (GRCm39) |
D236G |
probably damaging |
Het |
Tssk2 |
A |
T |
16: 17,717,565 (GRCm39) |
M323L |
probably benign |
Het |
Ubqln5 |
A |
G |
7: 103,778,215 (GRCm39) |
V203A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,569,214 (GRCm39) |
L1134* |
probably null |
Het |
Vmn1r37 |
C |
T |
6: 66,708,704 (GRCm39) |
S73F |
possibly damaging |
Het |
Vps13c |
A |
G |
9: 67,834,734 (GRCm39) |
K1688E |
probably damaging |
Het |
Zbtb39 |
A |
G |
10: 127,577,711 (GRCm39) |
D95G |
probably damaging |
Het |
Zfhx3 |
T |
A |
8: 109,527,160 (GRCm39) |
I1019N |
probably damaging |
Het |
Zfp207 |
C |
T |
11: 80,286,329 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
C |
T |
14: 25,644,062 (GRCm39) |
T169M |
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 |
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'- AAGAACGGAACAGCTGCATTTC -3'
(R):5'- CCTTAAAATACCAGCTGCTGC -3'
Sequencing Primer
(F):5'- GGAAATAGCTTCTCCTGGAGCATC -3'
(R):5'- GCTGCCCAGTTGTCACAGTTAG -3'
|
Posted On |
2018-11-06 |