Incidental Mutation 'R3859:Trim30b'
| ID |
276287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30b
|
| Ensembl Gene |
ENSMUSG00000052749 |
| Gene Name |
tripartite motif-containing 30B |
| Synonyms |
A530023O14Rik, Trim30-1 |
| MMRRC Submission |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104004605-104007853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104006487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 123
(E123G)
|
| 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 |
probably benign
Transcript: ENSMUST00000171830
AA Change: E123G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131288
Gene: ENSMUSG00000052749
AA Change: E123G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3UV9|A
|
1 |
132 |
5e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209729
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Dnajc5b |
G |
T |
3: 19,628,966 (GRCm39) |
G87* |
probably null |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbl |
G |
A |
7: 27,873,935 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gnao1 |
C |
T |
8: 94,538,273 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Krt12 |
G |
A |
11: 99,309,319 (GRCm39) |
L314F |
possibly damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACGCATACTGTCATTGGC -3'
(R):5'- ACATGCTGCACCCCAACTTTG -3'
Sequencing Primer
(F):5'- CGCATACTGTCATTGGCATTGAAC -3'
(R):5'- GCACCCCAACTTTGTTCTATGAATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation