Incidental Mutation 'IGL01336:Trim31'
| ID |
74630 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim31
|
| Ensembl Gene |
ENSMUSG00000058063 |
| Gene Name |
tripartite motif-containing 31 |
| Synonyms |
HCG1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37209022-37221109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37220269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 395
(A395E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078438]
|
| AlphaFold |
Q8R0K2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078438
AA Change: A395E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: A395E
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
55 |
6.63e-10 |
SMART |
|
BBOX
|
89 |
130 |
1.29e-12 |
SMART |
|
low complexity region
|
149 |
164 |
N/A |
INTRINSIC |
|
coiled coil region
|
269 |
299 |
N/A |
INTRINSIC |
|
PRY
|
332 |
387 |
4.4e-2 |
SMART |
|
Pfam:SPRY
|
390 |
506 |
1.6e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Ankrd7 |
T |
C |
6: 18,868,277 (GRCm39) |
V133A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Trim31
|
APN |
17 |
37,220,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01420:Trim31
|
APN |
17 |
37,209,303 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1485:Trim31
|
UTSW |
17 |
37,209,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Trim31
|
UTSW |
17 |
37,212,692 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2962:Trim31
|
UTSW |
17 |
37,210,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Trim31
|
UTSW |
17 |
37,209,633 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5352:Trim31
|
UTSW |
17 |
37,210,810 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5439:Trim31
|
UTSW |
17 |
37,216,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6128:Trim31
|
UTSW |
17 |
37,220,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6179:Trim31
|
UTSW |
17 |
37,220,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Trim31
|
UTSW |
17 |
37,218,683 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7068:Trim31
|
UTSW |
17 |
37,209,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Trim31
|
UTSW |
17 |
37,218,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7459:Trim31
|
UTSW |
17 |
37,220,554 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8506:Trim31
|
UTSW |
17 |
37,218,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8811:Trim31
|
UTSW |
17 |
37,210,875 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9139:Trim31
|
UTSW |
17 |
37,220,145 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9139:Trim31
|
UTSW |
17 |
37,209,382 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9612:Trim31
|
UTSW |
17 |
37,212,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2013-10-07 |
Incidental Mutation