Incidental Mutation 'IGL00486:Trim31'
| ID |
3852 |
| 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 # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37209022-37221109 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 37220133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 350
(Q350K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078438]
|
| AlphaFold |
Q8R0K2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078438
AA Change: Q350K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000077535
Gene: ENSMUSG00000058063
AA Change: Q350K
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Trim31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01336:Trim31
|
APN |
17 |
37,220,269 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2012-04-20 |
Incidental Mutation