Incidental Mutation 'IGL00573:Trim30c'
| ID |
332669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim30c
|
| Ensembl Gene |
ENSMUSG00000078616 |
| Gene Name |
tripartite motif-containing 30C |
| Synonyms |
Gm5598, Trim30-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL00573
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104031272-104050044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104031838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 326
(I326L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106828]
|
| AlphaFold |
D3YVI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106828
AA Change: I326L
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: I326L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
16 |
59 |
2.51e-10 |
SMART |
|
BBOX
|
92 |
133 |
2.02e-14 |
SMART |
|
low complexity region
|
197 |
229 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
356 |
495 |
1.9e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,877,704 (GRCm39) |
D687G |
probably benign |
Het |
| Cd69 |
C |
A |
6: 129,245,283 (GRCm39) |
V140F |
probably damaging |
Het |
| Cep290 |
C |
T |
10: 100,376,223 (GRCm39) |
P1437L |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,086,860 (GRCm39) |
Y1023H |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,900,095 (GRCm39) |
Y1676F |
probably benign |
Het |
| Ctnna2 |
A |
C |
6: 76,879,264 (GRCm39) |
|
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,450,161 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
T |
15: 85,111,238 (GRCm39) |
M131L |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,686,649 (GRCm39) |
V368A |
probably damaging |
Het |
| Marveld2 |
A |
T |
13: 100,734,367 (GRCm39) |
|
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,674,732 (GRCm39) |
Y400C |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,619 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
A |
9: 72,593,338 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
C |
T |
11: 59,455,942 (GRCm39) |
H913Y |
possibly damaging |
Het |
| Pkd1 |
G |
T |
17: 24,813,504 (GRCm39) |
E4015* |
probably null |
Het |
| Plscr1 |
C |
T |
9: 92,146,732 (GRCm39) |
L125F |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,151 (GRCm39) |
D325G |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,009,182 (GRCm39) |
Y158C |
probably damaging |
Het |
| Zbtb40 |
G |
A |
4: 136,745,389 (GRCm39) |
P215S |
probably benign |
Het |
| Zfp568 |
A |
T |
7: 29,721,865 (GRCm39) |
H269L |
possibly damaging |
Het |
| Zmynd11 |
T |
G |
13: 9,739,262 (GRCm39) |
E510A |
probably damaging |
Het |
|
| Other mutations in Trim30c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Trim30c
|
APN |
7 |
104,031,389 (GRCm39) |
nonsense |
probably null |
|
|
IGL01023:Trim30c
|
APN |
7 |
104,032,179 (GRCm39) |
splice site |
probably benign |
|
|
IGL01413:Trim30c
|
APN |
7 |
104,031,541 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01418:Trim30c
|
APN |
7 |
104,031,541 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02330:Trim30c
|
APN |
7 |
104,032,165 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02389:Trim30c
|
APN |
7 |
104,031,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03107:Trim30c
|
APN |
7 |
104,031,820 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0195:Trim30c
|
UTSW |
7 |
104,031,636 (GRCm39) |
missense |
probably benign |
|
|
R0324:Trim30c
|
UTSW |
7 |
104,032,516 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0826:Trim30c
|
UTSW |
7 |
104,032,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0865:Trim30c
|
UTSW |
7 |
104,039,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Trim30c
|
UTSW |
7 |
104,032,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Trim30c
|
UTSW |
7 |
104,031,896 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1563:Trim30c
|
UTSW |
7 |
104,032,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2220:Trim30c
|
UTSW |
7 |
104,032,474 (GRCm39) |
missense |
probably benign |
|
|
R2442:Trim30c
|
UTSW |
7 |
104,031,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Trim30c
|
UTSW |
7 |
104,037,511 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5777:Trim30c
|
UTSW |
7 |
104,032,538 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6118:Trim30c
|
UTSW |
7 |
104,031,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6257:Trim30c
|
UTSW |
7 |
104,039,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6374:Trim30c
|
UTSW |
7 |
104,039,609 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7387:Trim30c
|
UTSW |
7 |
104,039,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Trim30c
|
UTSW |
7 |
104,037,472 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7500:Trim30c
|
UTSW |
7 |
104,036,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7542:Trim30c
|
UTSW |
7 |
104,031,425 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8207:Trim30c
|
UTSW |
7 |
104,032,703 (GRCm39) |
missense |
probably benign |
|
|
R8501:Trim30c
|
UTSW |
7 |
104,036,677 (GRCm39) |
missense |
probably benign |
|
|
R9059:Trim30c
|
UTSW |
7 |
104,031,272 (GRCm39) |
makesense |
probably null |
|
|
R9193:Trim30c
|
UTSW |
7 |
104,031,553 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1176:Trim30c
|
UTSW |
7 |
104,032,465 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-08-05 |
Incidental Mutation