Incidental Mutation 'IGL02262:Trim30b'
| ID |
286775 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim30b
|
| Ensembl Gene |
ENSMUSG00000052749 |
| Gene Name |
tripartite motif-containing 30B |
| Synonyms |
A530023O14Rik, Trim30-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02262
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104004605-104007853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104015107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 94
(V94M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106831]
[ENSMUST00000164410]
|
| AlphaFold |
E9PVL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106831
AA Change: V94M
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749
AA Change: V94M
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
4.37e-10 |
SMART |
|
BBOX
|
92 |
133 |
2.82e-13 |
SMART |
|
coiled coil region
|
138 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145982
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164410
AA Change: V94M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749
AA Change: V94M
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
59 |
4.37e-10 |
SMART |
|
BBOX
|
92 |
133 |
2.82e-13 |
SMART |
|
coiled coil region
|
138 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
199 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| Adgrg6 |
G |
T |
10: 14,317,140 (GRCm39) |
A560E |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,013 (GRCm39) |
M311K |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,800,184 (GRCm39) |
V1281G |
probably damaging |
Het |
| Cacna1s |
C |
T |
1: 136,035,867 (GRCm39) |
T1388I |
probably damaging |
Het |
| Dcaf13 |
T |
C |
15: 38,982,102 (GRCm39) |
|
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,656,414 (GRCm39) |
G1585S |
probably benign |
Het |
| Dscaml1 |
G |
A |
9: 45,643,378 (GRCm39) |
V1266I |
probably benign |
Het |
| Epc1 |
A |
G |
18: 6,437,278 (GRCm39) |
L750P |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,961,490 (GRCm39) |
M1108K |
probably damaging |
Het |
| Gm14496 |
T |
C |
2: 181,637,805 (GRCm39) |
I293T |
probably damaging |
Het |
| Gm21759 |
T |
C |
5: 8,230,747 (GRCm39) |
|
probably benign |
Het |
| Igkv3-10 |
A |
T |
6: 70,550,154 (GRCm39) |
D100V |
possibly damaging |
Het |
| Ipo13 |
A |
C |
4: 117,761,010 (GRCm39) |
I569M |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,743,633 (GRCm39) |
Y1243C |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,510 (GRCm39) |
E489G |
probably damaging |
Het |
| Mtcl2 |
A |
T |
2: 156,872,826 (GRCm39) |
V895E |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,011,636 (GRCm39) |
V331A |
probably damaging |
Het |
| Ntrk1 |
G |
A |
3: 87,689,104 (GRCm39) |
L529F |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,919,359 (GRCm39) |
C6882S |
possibly damaging |
Het |
| Or14j5 |
A |
C |
17: 38,162,154 (GRCm39) |
T224P |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Ppp1r13b |
C |
A |
12: 111,801,645 (GRCm39) |
L346F |
possibly damaging |
Het |
| Psg22 |
T |
C |
7: 18,458,496 (GRCm39) |
S396P |
probably damaging |
Het |
| Rbm19 |
A |
G |
5: 120,281,470 (GRCm39) |
E797G |
probably damaging |
Het |
| Ros1 |
T |
G |
10: 52,055,065 (GRCm39) |
D79A |
probably damaging |
Het |
| Scn10a |
C |
T |
9: 119,487,499 (GRCm39) |
V612I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,422 (GRCm39) |
V568A |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,729,636 (GRCm39) |
F472L |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,186 (GRCm39) |
S445T |
unknown |
Het |
| Zfp541 |
A |
G |
7: 15,813,620 (GRCm39) |
K758E |
probably damaging |
Het |
|
| Other mutations in Trim30b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01701:Trim30b
|
APN |
7 |
104,015,258 (GRCm39) |
nonsense |
probably null |
|
|
IGL03297:Trim30b
|
APN |
7 |
104,015,102 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0078:Trim30b
|
UTSW |
7 |
104,015,102 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0416:Trim30b
|
UTSW |
7 |
104,012,973 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0511:Trim30b
|
UTSW |
7 |
104,015,010 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0555:Trim30b
|
UTSW |
7 |
104,006,505 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0609:Trim30b
|
UTSW |
7 |
104,007,183 (GRCm39) |
start gained |
probably benign |
|
|
R1317:Trim30b
|
UTSW |
7 |
104,006,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1318:Trim30b
|
UTSW |
7 |
104,006,542 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1528:Trim30b
|
UTSW |
7 |
104,006,506 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1603:Trim30b
|
UTSW |
7 |
104,015,019 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3859:Trim30b
|
UTSW |
7 |
104,006,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4052:Trim30b
|
UTSW |
7 |
104,006,685 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4576:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4577:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4578:Trim30b
|
UTSW |
7 |
104,006,538 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5705:Trim30b
|
UTSW |
7 |
104,006,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Trim30b
|
UTSW |
7 |
104,006,544 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5846:Trim30b
|
UTSW |
7 |
104,006,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5914:Trim30b
|
UTSW |
7 |
104,006,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6083:Trim30b
|
UTSW |
7 |
104,015,349 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6862:Trim30b
|
UTSW |
7 |
104,012,960 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7216:Trim30b
|
UTSW |
7 |
104,006,569 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8062:Trim30b
|
UTSW |
7 |
104,015,393 (GRCm39) |
start gained |
probably benign |
|
|
R8516:Trim30b
|
UTSW |
7 |
104,006,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8552:Trim30b
|
UTSW |
7 |
104,015,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8824:Trim30b
|
UTSW |
7 |
104,007,113 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:Trim30b
|
UTSW |
7 |
104,015,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation