Incidental Mutation 'IGL01568:Trim16'
| ID |
91049 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim16
|
| Ensembl Gene |
ENSMUSG00000047821 |
| Gene Name |
tripartite motif-containing 16 |
| Synonyms |
9130006M08Rik, EBBP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62711034-62733774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62711684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 118
(D118E)
|
| 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: D118E
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000055542
Gene: ENSMUSG00000047821
AA Change: D118E
| 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: D118E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
AA Change: D118E
| 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: D31E
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000104343
Gene: ENSMUSG00000047821
AA Change: D31E
| 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: ENSMUST00000147942
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,258,270 (GRCm39) |
L298* |
probably null |
Het |
| Capn15 |
G |
T |
17: 26,184,419 (GRCm39) |
R21S |
probably damaging |
Het |
| Cbs |
A |
G |
17: 31,840,488 (GRCm39) |
L290P |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,229,798 (GRCm39) |
I144T |
probably benign |
Het |
| Dok4 |
T |
A |
8: 95,593,430 (GRCm39) |
I119F |
probably benign |
Het |
| Dpp9 |
T |
C |
17: 56,498,159 (GRCm39) |
N599S |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,867,361 (GRCm39) |
T984A |
unknown |
Het |
| Fcrl2 |
T |
C |
3: 87,163,986 (GRCm39) |
N381S |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,253,219 (GRCm39) |
I1390V |
probably benign |
Het |
| Gabbr1 |
A |
G |
17: 37,381,561 (GRCm39) |
Y775C |
probably damaging |
Het |
| Gimap9 |
A |
G |
6: 48,654,550 (GRCm39) |
T46A |
probably benign |
Het |
| Gm3696 |
T |
C |
14: 18,435,020 (GRCm39) |
N88S |
probably benign |
Het |
| Gm5277 |
A |
G |
3: 78,799,743 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr153 |
C |
A |
4: 152,366,825 (GRCm39) |
|
probably null |
Het |
| Hgf |
A |
T |
5: 16,769,812 (GRCm39) |
K95N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,902,872 (GRCm39) |
S2393P |
possibly damaging |
Het |
| Ikbke |
C |
A |
1: 131,185,633 (GRCm39) |
|
probably null |
Het |
| Il17re |
G |
T |
6: 113,447,013 (GRCm39) |
R588L |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,054,382 (GRCm39) |
|
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,721,646 (GRCm39) |
D465V |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,262,243 (GRCm39) |
P249Q |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,038 (GRCm39) |
D234E |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,477,861 (GRCm39) |
I61T |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,353,609 (GRCm39) |
Q1217K |
probably benign |
Het |
| Nt5dc3 |
A |
G |
10: 86,669,802 (GRCm39) |
T466A |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,569 (GRCm39) |
H193L |
possibly damaging |
Het |
| Or8s2 |
T |
C |
15: 98,276,787 (GRCm39) |
D68G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,054 (GRCm39) |
V340A |
possibly damaging |
Het |
| Pclo |
C |
T |
5: 14,728,443 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,163,463 (GRCm39) |
V2152I |
probably benign |
Het |
| Pip4k2b |
A |
T |
11: 97,620,378 (GRCm39) |
|
probably null |
Het |
| Ptprs |
G |
A |
17: 56,720,958 (GRCm39) |
H1432Y |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,716,808 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
A |
G |
6: 54,499,739 (GRCm39) |
|
probably benign |
Het |
| Sdr42e1 |
T |
C |
8: 118,390,182 (GRCm39) |
Y153C |
probably damaging |
Het |
| Slc18a1 |
A |
T |
8: 69,518,278 (GRCm39) |
S245R |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,550,678 (GRCm39) |
|
probably benign |
Het |
| Tns1 |
T |
G |
1: 73,992,668 (GRCm39) |
D670A |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,129,269 (GRCm39) |
D62G |
probably benign |
Het |
| Tyr |
A |
G |
7: 87,087,156 (GRCm39) |
L452P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,148,684 (GRCm39) |
C1723R |
probably damaging |
Het |
| Uqcrb |
G |
A |
13: 67,049,459 (GRCm39) |
|
probably benign |
Het |
| Vax2 |
G |
T |
6: 83,688,519 (GRCm39) |
V81L |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,463,106 (GRCm39) |
V691A |
unknown |
Het |
| Zfp335 |
A |
G |
2: 164,736,708 (GRCm39) |
S976P |
possibly damaging |
Het |
| Zfp384 |
C |
T |
6: 125,001,095 (GRCm39) |
P56S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation