Incidental Mutation 'R9581:Trim16'
ID |
722548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim16
|
Ensembl Gene |
ENSMUSG00000047821 |
Gene Name |
tripartite motif-containing 16 |
Synonyms |
9130006M08Rik, EBBP |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9581 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62727557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 293
(I293K)
|
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 damaging
Transcript: ENSMUST00000055006
AA Change: I293K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000055542 Gene: ENSMUSG00000047821 AA Change: I293K
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 damaging
Transcript: ENSMUST00000072639
AA Change: I293K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072432 Gene: ENSMUSG00000047821 AA Change: I293K
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 damaging
Transcript: ENSMUST00000108703
AA Change: I206K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000104343 Gene: ENSMUSG00000047821 AA Change: I206K
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
T |
G |
5: 8,790,428 (GRCm39) |
I1097R |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,650,762 (GRCm39) |
S533P |
probably damaging |
Het |
Adat1 |
C |
T |
8: 112,705,946 (GRCm39) |
V387I |
probably benign |
Het |
Aff3 |
T |
A |
1: 38,249,266 (GRCm39) |
T614S |
probably benign |
Het |
Aldh1a1 |
T |
A |
19: 20,597,417 (GRCm39) |
C133S |
probably benign |
Het |
Ankrd12 |
A |
G |
17: 66,290,415 (GRCm39) |
S1673P |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,370,055 (GRCm39) |
|
probably null |
Het |
Arsi |
A |
G |
18: 61,050,160 (GRCm39) |
T348A |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,799,300 (GRCm39) |
R275G |
probably benign |
Het |
Cdh2 |
T |
A |
18: 16,803,112 (GRCm39) |
|
probably benign |
Het |
Cela1 |
C |
T |
15: 100,573,261 (GRCm39) |
A243T |
probably benign |
Het |
Cep192 |
G |
T |
18: 67,980,465 (GRCm39) |
V1409F |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,035,879 (GRCm39) |
Y240H |
possibly damaging |
Het |
Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
Dip2b |
C |
A |
15: 100,079,255 (GRCm39) |
N822K |
probably damaging |
Het |
Dnah12 |
C |
T |
14: 26,491,985 (GRCm39) |
T1140I |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,785,782 (GRCm39) |
S213P |
probably damaging |
Het |
Ell2 |
A |
G |
13: 75,912,148 (GRCm39) |
D478G |
probably benign |
Het |
Evpl |
G |
A |
11: 116,120,660 (GRCm39) |
T483M |
probably benign |
Het |
Farp1 |
A |
T |
14: 121,480,841 (GRCm39) |
E414V |
probably benign |
Het |
Fbxl17 |
A |
G |
17: 63,806,525 (GRCm39) |
V163A |
probably benign |
Het |
Foxn3 |
C |
T |
12: 99,163,035 (GRCm39) |
E289K |
probably damaging |
Het |
Fscb |
T |
A |
12: 64,521,122 (GRCm39) |
I115F |
probably benign |
Het |
Gm14496 |
A |
T |
2: 181,642,047 (GRCm39) |
T573S |
probably benign |
Het |
Golga1 |
G |
T |
2: 38,909,573 (GRCm39) |
D677E |
probably damaging |
Het |
Herc6 |
A |
T |
6: 57,635,101 (GRCm39) |
K772N |
probably damaging |
Het |
Ikbkb |
T |
C |
8: 23,155,575 (GRCm39) |
D639G |
probably damaging |
Het |
Lrrc61 |
G |
A |
6: 48,545,653 (GRCm39) |
V159I |
possibly damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Mib1 |
A |
G |
18: 10,775,701 (GRCm39) |
D551G |
possibly damaging |
Het |
Muc5ac |
G |
T |
7: 141,363,799 (GRCm39) |
R2370L |
unknown |
Het |
Mybpc3 |
A |
G |
2: 90,949,616 (GRCm39) |
D53G |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,812,543 (GRCm39) |
P2105S |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,351,194 (GRCm39) |
H1271Q |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nmt2 |
T |
C |
2: 3,317,212 (GRCm39) |
V340A |
possibly damaging |
Het |
Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
Nox3 |
G |
A |
17: 3,700,328 (GRCm39) |
R462W |
possibly damaging |
Het |
Or10h28 |
C |
A |
17: 33,487,995 (GRCm39) |
A99D |
probably damaging |
Het |
Or52a20 |
A |
G |
7: 103,365,788 (GRCm39) |
|
probably benign |
Het |
Pcdhgc4 |
A |
G |
18: 37,950,189 (GRCm39) |
Q535R |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,432,196 (GRCm39) |
D1473G |
probably benign |
Het |
Pdilt |
A |
T |
7: 119,099,633 (GRCm39) |
F212I |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,450,789 (GRCm39) |
V59D |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,092,257 (GRCm39) |
D571G |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,547,771 (GRCm39) |
V209E |
possibly damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
Sec16a |
C |
T |
2: 26,328,647 (GRCm39) |
V142I |
|
Het |
Slamf6 |
A |
G |
1: 171,761,897 (GRCm39) |
Y106C |
|
Het |
Strc |
A |
G |
2: 121,207,928 (GRCm39) |
V481A |
probably damaging |
Het |
Sulf1 |
A |
T |
1: 12,875,478 (GRCm39) |
I163F |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,949,472 (GRCm39) |
S1637P |
probably damaging |
Het |
Tlr9 |
A |
G |
9: 106,101,510 (GRCm39) |
E267G |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,268 (GRCm39) |
F309L |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,187,998 (GRCm39) |
N196S |
probably benign |
Het |
Trim7 |
T |
C |
11: 48,738,887 (GRCm39) |
V95A |
probably damaging |
Het |
Ttll6 |
A |
T |
11: 96,049,572 (GRCm39) |
K763N |
probably benign |
Het |
Tut1 |
T |
C |
19: 8,941,981 (GRCm39) |
S483P |
probably benign |
Het |
Zfp101 |
A |
T |
17: 33,605,730 (GRCm39) |
L26* |
probably null |
Het |
Zfp106 |
C |
T |
2: 120,365,807 (GRCm39) |
R155K |
|
Het |
Zfp518a |
T |
A |
19: 40,900,156 (GRCm39) |
D28E |
probably damaging |
Het |
Zfp90 |
T |
A |
8: 107,151,714 (GRCm39) |
S476T |
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 |
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 |
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'- ATTTGTCTAGAAGCATAGACCACG -3'
(R):5'- AGTTGGGATAAGAATCACTAGTAGC -3'
Sequencing Primer
(F):5'- GTCTAGAAGCATAGACCACGTTATG -3'
(R):5'- GCCTAGCTGAAAAATGGCTTTG -3'
|
Posted On |
2022-08-09 |