Incidental Mutation 'R8354:Trim16'
| ID |
660617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim16
|
| Ensembl Gene |
ENSMUSG00000047821 |
| Gene Name |
tripartite motif-containing 16 |
| Synonyms |
9130006M08Rik, EBBP |
| MMRRC Submission |
067806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8354 (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 T
at 62727587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 216
(R216L)
|
| 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
AA Change: R303L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: R303L
| 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
AA Change: R303L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: R303L
| 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: R216L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: R216L
| 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 |
0.0882 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
T |
2: 150,676,297 (GRCm39) |
S353R |
probably damaging |
Het |
| Ap1ar |
T |
C |
3: 127,606,428 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
C |
A |
2: 153,235,345 (GRCm39) |
N213K |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,274,314 (GRCm39) |
V2197A |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,401,334 (GRCm39) |
E706K |
possibly damaging |
Het |
| Cfap46 |
C |
T |
7: 139,233,414 (GRCm39) |
V296I |
probably benign |
Het |
| Cldn5 |
A |
G |
16: 18,596,043 (GRCm39) |
T100A |
probably benign |
Het |
| Ctnna1 |
C |
A |
18: 35,385,776 (GRCm39) |
N802K |
possibly damaging |
Het |
| Dennd2b |
G |
A |
7: 109,124,755 (GRCm39) |
R675* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,671,918 (GRCm39) |
T968A |
probably benign |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,862,234 (GRCm39) |
D203V |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,094,927 (GRCm39) |
M585T |
probably damaging |
Het |
| Donson |
G |
T |
16: 91,480,685 (GRCm39) |
T262K |
possibly damaging |
Het |
| E2f3 |
T |
A |
13: 30,169,787 (GRCm39) |
|
probably benign |
Het |
| Fam110c |
A |
G |
12: 31,125,178 (GRCm39) |
E380G |
possibly damaging |
Het |
| Gbp9 |
T |
G |
5: 105,242,027 (GRCm39) |
T177P |
probably damaging |
Het |
| Gins3 |
C |
T |
8: 96,364,646 (GRCm39) |
A132V |
probably benign |
Het |
| Glra3 |
T |
A |
8: 56,578,345 (GRCm39) |
Y467* |
probably null |
Het |
| Gm7138 |
A |
G |
10: 77,612,444 (GRCm39) |
|
probably benign |
Het |
| Golim4 |
T |
C |
3: 75,802,308 (GRCm39) |
E328G |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,301,388 (GRCm39) |
C270* |
probably null |
Het |
| Hecw2 |
A |
G |
1: 53,964,467 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,634,142 (GRCm39) |
Y815N |
possibly damaging |
Het |
| Igfn1 |
A |
T |
1: 135,887,619 (GRCm39) |
C2482S |
possibly damaging |
Het |
| Igkv4-71 |
A |
G |
6: 69,220,260 (GRCm39) |
V57A |
probably damaging |
Het |
| Itpkb |
G |
A |
1: 180,160,908 (GRCm39) |
E345K |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,334,893 (GRCm39) |
V2136M |
possibly damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,127,211 (GRCm39) |
T336A |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,235 (GRCm39) |
T208A |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Krt10 |
A |
G |
11: 99,280,086 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,289,367 (GRCm39) |
N28I |
probably damaging |
Het |
| Matn2 |
T |
C |
15: 34,378,843 (GRCm39) |
L293P |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,950,381 (GRCm39) |
E1010G |
probably damaging |
Het |
| Mpp4 |
C |
A |
1: 59,169,224 (GRCm39) |
R380L |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,250,742 (GRCm39) |
F469L |
possibly damaging |
Het |
| Ncam2 |
A |
G |
16: 81,309,847 (GRCm39) |
T446A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,800,062 (GRCm39) |
D1050G |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,509,793 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,036 (GRCm39) |
D119G |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,513 (GRCm39) |
S235P |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,488,357 (GRCm39) |
E1729G |
probably damaging |
Het |
| Peg10 |
GCACATCAGGATCC |
GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,681,707 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Prkag2 |
T |
A |
5: 25,074,137 (GRCm39) |
R283* |
probably null |
Het |
| Prrc1 |
T |
A |
18: 57,504,503 (GRCm39) |
M238K |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,300,061 (GRCm39) |
T247A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,614 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,884,291 (GRCm39) |
A114T |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,526,731 (GRCm39) |
V1307A |
probably benign |
Het |
| Scaf1 |
A |
C |
7: 44,657,251 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,986,866 (GRCm39) |
T440S |
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,598 (GRCm39) |
V1023E |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,913,931 (GRCm39) |
I331V |
possibly damaging |
Het |
| Slc4a7 |
C |
T |
14: 14,786,313 (GRCm38) |
R1000C |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,222,753 (GRCm39) |
H162R |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,223 (GRCm39) |
H303L |
probably benign |
Het |
| Strip2 |
G |
A |
6: 29,920,531 (GRCm39) |
|
probably null |
Het |
| Stx2 |
T |
A |
5: 129,071,932 (GRCm39) |
I42L |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,410 (GRCm39) |
T240S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,070 (GRCm39) |
V10D |
probably damaging |
Het |
| Tmem41a |
T |
A |
16: 21,766,181 (GRCm39) |
Y19F |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,018,439 (GRCm39) |
T74A |
possibly damaging |
Het |
| Trmt10c |
T |
C |
16: 55,854,870 (GRCm39) |
K255R |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,769,483 (GRCm39) |
V747E |
probably damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,399,005 (GRCm39) |
D28G |
possibly damaging |
Het |
| Uty |
G |
A |
Y: 1,157,928 (GRCm39) |
T705I |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,710 (GRCm39) |
I21F |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,204,723 (GRCm39) |
L176S |
probably damaging |
Het |
| Zfp992 |
A |
G |
4: 146,551,319 (GRCm39) |
T347A |
probably benign |
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 |
|
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'- CATTTGTCTAGAAGCATAGACCACG -3'
(R):5'- TGGGATAAGAATCACTAGTAGCCTAG -3'
Sequencing Primer
(F):5'- GTCTAGAAGCATAGACCACGTTATG -3'
(R):5'- GCCTAGCTGAAAAATGGCTTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation