Incidental Mutation 'IGL02330:Trim30c'
| ID |
288625 |
| 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 # |
IGL02330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104031272-104050044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104032165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 299
(Y299H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106828]
|
| AlphaFold |
D3YVI9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106828
AA Change: Y299H
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: Y299H
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
A |
T |
8: 56,325,398 (GRCm39) |
I352K |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,970,520 (GRCm39) |
N73S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,181,804 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,328 (GRCm39) |
G500D |
possibly damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,352,224 (GRCm39) |
|
probably benign |
Het |
| Dagla |
T |
G |
19: 10,225,386 (GRCm39) |
D926A |
probably damaging |
Het |
| Ddr2 |
T |
A |
1: 169,816,093 (GRCm39) |
Y538F |
probably damaging |
Het |
| Eng |
T |
A |
2: 32,559,581 (GRCm39) |
|
probably null |
Het |
| Fbxo24 |
G |
T |
5: 137,619,579 (GRCm39) |
L99M |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Foxp1 |
T |
C |
6: 98,922,373 (GRCm39) |
N453D |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,497,017 (GRCm39) |
D409G |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,891,517 (GRCm39) |
H8R |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,120 (GRCm39) |
C44R |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,148,740 (GRCm39) |
I294F |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,910,693 (GRCm39) |
S976T |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,987 (GRCm39) |
Y249C |
possibly damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,686 (GRCm39) |
S273P |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,425,206 (GRCm39) |
|
probably benign |
Het |
| Or1j21 |
C |
T |
2: 36,683,907 (GRCm39) |
H220Y |
probably benign |
Het |
| Otog |
C |
T |
7: 45,937,493 (GRCm39) |
S1734F |
possibly damaging |
Het |
| Phc3 |
T |
G |
3: 30,990,530 (GRCm39) |
E562D |
probably damaging |
Het |
| Ralb |
A |
T |
1: 119,399,450 (GRCm39) |
C203S |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Sf3b4 |
A |
T |
3: 96,080,376 (GRCm39) |
T42S |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,749,493 (GRCm39) |
T584A |
probably benign |
Het |
| Slco5a1 |
T |
C |
1: 13,009,284 (GRCm39) |
K397R |
probably damaging |
Het |
| Trip6 |
T |
C |
5: 137,311,620 (GRCm39) |
D119G |
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,977,896 (GRCm39) |
I385N |
possibly damaging |
Het |
| Vmn1r123 |
T |
A |
7: 20,896,969 (GRCm39) |
I287N |
probably damaging |
Het |
| Vwce |
T |
C |
19: 10,624,165 (GRCm39) |
L352P |
possibly damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,401 (GRCm39) |
Y260* |
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,819,550 (GRCm39) |
Y147C |
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 |
|
|
IGL00573:Trim30c
|
APN |
7 |
104,031,838 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation