Incidental Mutation 'R4052:Trim30b'
| ID |
314201 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4052 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104004605-104007853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104006685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 57
(Q57L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059037]
[ENSMUST00000106831]
[ENSMUST00000130139]
[ENSMUST00000164410]
[ENSMUST00000171830]
|
| AlphaFold |
E9PVL6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059037
|
| SMART Domains |
Protein: ENSMUSP00000060100
Gene: ENSMUSG00000057143
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
5.51e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
351 |
493 |
8.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106831
|
| SMART Domains |
Protein: ENSMUSP00000102444
Gene: ENSMUSG00000052749
| 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 |
probably benign
Transcript: ENSMUST00000130139
|
| SMART Domains |
Protein: ENSMUSP00000116775
Gene: ENSMUSG00000057143
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
5.51e-7 |
SMART |
|
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
|
low complexity region
|
196 |
209 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155961
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164410
|
| SMART Domains |
Protein: ENSMUSP00000131747
Gene: ENSMUSG00000052749
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171830
AA Change: Q57L
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131288
Gene: ENSMUSG00000052749
AA Change: Q57L
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3UV9|A
|
1 |
132 |
5e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209729
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
| Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
| Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
| Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
| BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
| Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
| Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
| Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
| Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
| Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
| Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
| Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
| Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
| Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
| Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
| Pabpc1l |
T |
C |
2: 163,885,533 (GRCm39) |
W429R |
probably benign |
Het |
| Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
| Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,803,963 (GRCm39) |
F89L |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
| Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
| Rnf207 |
C |
A |
4: 152,395,894 (GRCm39) |
Q533H |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
| Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
| Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
| Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly 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 |
|
|
IGL02262:Trim30b
|
APN |
7 |
104,015,107 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGCCAAGACACTGAATTG -3'
(R):5'- TCTGCAGTTCATGTGACTCTAC -3'
Sequencing Primer
(F):5'- TTGTAGGTGACAGGACACTTATC -3'
(R):5'- AGAAAAAGACAAATGCAGCATGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation