Incidental Mutation 'IGL00476:Trim7'
| ID |
4613 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim7
|
| Ensembl Gene |
ENSMUSG00000040350 |
| Gene Name |
tripartite motif-containing 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
48716965-48742019 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48738905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 308
(N308I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039011
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046903]
[ENSMUST00000109213]
[ENSMUST00000129674]
[ENSMUST00000149049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046903
AA Change: N308I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039011
Gene: ENSMUSG00000040350
AA Change: N308I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
RING
|
29 |
80 |
2.95e-7 |
SMART |
|
BBOX
|
124 |
165 |
3.23e-13 |
SMART |
|
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
|
coiled coil region
|
246 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
304 |
N/A |
INTRINSIC |
|
PRY
|
340 |
392 |
4.61e-18 |
SMART |
|
SPRY
|
393 |
506 |
1.63e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109213
AA Change: N101I
PolyPhen 2
Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104836
Gene: ENSMUSG00000040350
AA Change: N101I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
coiled coil region
|
39 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
97 |
N/A |
INTRINSIC |
|
PRY
|
133 |
185 |
4.61e-18 |
SMART |
|
SPRY
|
186 |
299 |
1.63e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129674
|
| SMART Domains |
Protein: ENSMUSP00000116067
Gene: ENSMUSG00000040350
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131270
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156882
|
| 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 member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Trim7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Trim7
|
APN |
11 |
48,736,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0119:Trim7
|
UTSW |
11 |
48,740,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Trim7
|
UTSW |
11 |
48,740,328 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0546:Trim7
|
UTSW |
11 |
48,736,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Trim7
|
UTSW |
11 |
48,728,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1081:Trim7
|
UTSW |
11 |
48,740,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2139:Trim7
|
UTSW |
11 |
48,729,721 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3796:Trim7
|
UTSW |
11 |
48,736,497 (GRCm39) |
splice site |
probably null |
|
|
R3797:Trim7
|
UTSW |
11 |
48,736,497 (GRCm39) |
splice site |
probably null |
|
|
R3901:Trim7
|
UTSW |
11 |
48,728,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4157:Trim7
|
UTSW |
11 |
48,738,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4603:Trim7
|
UTSW |
11 |
48,728,355 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5429:Trim7
|
UTSW |
11 |
48,740,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Trim7
|
UTSW |
11 |
48,736,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5988:Trim7
|
UTSW |
11 |
48,728,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7960:Trim7
|
UTSW |
11 |
48,728,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8100:Trim7
|
UTSW |
11 |
48,740,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Trim7
|
UTSW |
11 |
48,740,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Trim7
|
UTSW |
11 |
48,736,281 (GRCm39) |
nonsense |
probably null |
|
|
R9574:Trim7
|
UTSW |
11 |
48,728,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Trim7
|
UTSW |
11 |
48,738,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Trim7
|
UTSW |
11 |
48,740,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation