Incidental Mutation 'IGL00467:Trim30c'
| ID |
332421 |
| 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 # |
IGL00467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104031272-104050044 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 104031389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 475
(Y475*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106828]
|
| AlphaFold |
D3YVI9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106828
AA Change: Y475*
|
| SMART Domains |
Protein: ENSMUSP00000102441
Gene: ENSMUSG00000078616
AA Change: Y475*
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,036,496 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
C |
A |
15: 101,041,221 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,984,587 (GRCm39) |
M1957K |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,512 (GRCm39) |
D653G |
probably damaging |
Het |
| Dcstamp |
T |
A |
15: 39,617,812 (GRCm39) |
C74S |
probably benign |
Het |
| Esrrg |
A |
G |
1: 187,943,107 (GRCm39) |
E360G |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,917,098 (GRCm39) |
|
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,286 (GRCm39) |
T216A |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,343,193 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mta3 |
T |
A |
17: 84,063,113 (GRCm39) |
|
probably benign |
Het |
| Nfu1 |
A |
G |
6: 86,997,755 (GRCm39) |
M213V |
possibly damaging |
Het |
| Pam |
A |
T |
1: 97,852,152 (GRCm39) |
|
probably benign |
Het |
| Pcca |
A |
T |
14: 122,820,041 (GRCm39) |
M62L |
probably benign |
Het |
| Phf6 |
A |
G |
X: 52,020,523 (GRCm39) |
Y25C |
probably damaging |
Het |
| Phlpp2 |
C |
T |
8: 110,652,422 (GRCm39) |
H589Y |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,795,804 (GRCm39) |
I956T |
probably damaging |
Het |
| Prkcd |
G |
A |
14: 30,324,379 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,086,656 (GRCm39) |
N973I |
possibly damaging |
Het |
| Rnf20 |
G |
T |
4: 49,655,480 (GRCm39) |
E905* |
probably null |
Het |
| Slc26a6 |
T |
A |
9: 108,733,088 (GRCm39) |
D22E |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taf6l |
A |
T |
19: 8,760,752 (GRCm39) |
N57K |
probably benign |
Het |
| Tas2r109 |
C |
A |
6: 132,956,986 (GRCm39) |
V315L |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,170,121 (GRCm39) |
N350S |
probably benign |
Het |
| Tex9 |
T |
C |
9: 72,385,117 (GRCm39) |
T240A |
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,193,734 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
T |
C |
8: 65,453,371 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,708 (GRCm39) |
Y1233C |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,841,235 (GRCm39) |
I106V |
probably benign |
Het |
| Zkscan16 |
T |
C |
4: 58,957,709 (GRCm39) |
S664P |
possibly damaging |
Het |
|
| Other mutations in Trim30c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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