Incidental Mutation 'R0346:Trim16'
ID |
34287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim16
|
Ensembl Gene |
ENSMUSG00000047821 |
Gene Name |
tripartite motif-containing 16 |
Synonyms |
9130006M08Rik, EBBP |
MMRRC Submission |
038553-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62731520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 464
(N464D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072432
(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: N464D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000055542 Gene: ENSMUSG00000047821 AA Change: N464D
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: N464D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000072432 Gene: ENSMUSG00000047821 AA Change: N464D
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: N377D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000104343 Gene: ENSMUSG00000047821 AA Change: N377D
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 |
0.1781 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (79/79) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
Alas1 |
A |
T |
9: 106,120,550 (GRCm39) |
S82T |
possibly damaging |
Het |
Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
Inpp5f |
T |
A |
7: 128,292,392 (GRCm39) |
L16Q |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,493,270 (GRCm39) |
T704S |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
Plekhg5 |
T |
C |
4: 152,198,710 (GRCm39) |
L966P |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
Smcr8 |
A |
G |
11: 60,670,576 (GRCm39) |
I575V |
probably benign |
Het |
Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
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 |
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 |
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'- TGACATCACGTTTGACCCAGACAC -3'
(R):5'- CATAGACCGGCTCTGAGAACTTGC -3'
Sequencing Primer
(F):5'- CAGTAGGTTTCTGCACTGGC -3'
(R):5'- GCAGTCAAACTTGTGAATCAGAGTC -3'
|
Posted On |
2013-05-09 |