Incidental Mutation 'R1318:Trim30b'
| ID |
157604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30b
|
| Ensembl Gene |
ENSMUSG00000052749 |
| Gene Name |
tripartite motif-containing 30B |
| Synonyms |
A530023O14Rik, Trim30-1 |
| MMRRC Submission |
039384-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1318 (G1)
|
| 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 104006542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 105
(T105S)
|
| 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: T105S
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131288
Gene: ENSMUSG00000052749
AA Change: T105S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3UV9|A
|
1 |
132 |
5e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209729
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.9%
- 20x: 82.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,751,621 (GRCm39) |
V334L |
probably benign |
Het |
| Alms1 |
T |
G |
6: 85,605,531 (GRCm39) |
S1925A |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Comt |
G |
T |
16: 18,226,641 (GRCm39) |
D248E |
probably damaging |
Het |
| Ctnna2 |
A |
C |
6: 76,859,773 (GRCm39) |
N874K |
probably damaging |
Het |
| Dnah7b |
C |
T |
1: 46,138,669 (GRCm39) |
P237L |
possibly damaging |
Het |
| Galnt4 |
T |
G |
10: 98,945,772 (GRCm39) |
V499G |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,923 (GRCm39) |
T96A |
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,629,161 (GRCm39) |
V29A |
probably damaging |
Het |
| Hnrnpu |
G |
A |
1: 178,157,822 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
T |
C |
9: 65,040,972 (GRCm39) |
L1001P |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,067,714 (GRCm39) |
F658V |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,327,750 (GRCm39) |
M180L |
possibly damaging |
Het |
| Ldb2 |
C |
T |
5: 44,692,379 (GRCm39) |
|
probably null |
Het |
| Mettl2 |
C |
A |
11: 105,028,597 (GRCm39) |
Y316* |
probably null |
Het |
| Mug2 |
G |
A |
6: 122,054,361 (GRCm39) |
V1047M |
probably damaging |
Het |
| Mxra8 |
G |
T |
4: 155,925,956 (GRCm39) |
C140F |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,559,401 (GRCm39) |
I101T |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,442 (GRCm39) |
N210S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,328 (GRCm39) |
|
probably benign |
Het |
| Plaat3 |
T |
A |
19: 7,556,591 (GRCm39) |
|
probably null |
Het |
| Rims2 |
G |
A |
15: 39,381,222 (GRCm39) |
R1051H |
probably damaging |
Het |
| Rnf4 |
C |
A |
5: 34,508,590 (GRCm39) |
R151S |
probably damaging |
Het |
| Serpina11 |
A |
T |
12: 103,952,777 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,706,164 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTACACCAGACATAGGGCAC -3'
(R):5'- CACATGCTGCACCCCAACTTTG -3'
Sequencing Primer
(F):5'- ACGCATACTGTCATTGGCATTG -3'
(R):5'- CTTTGTTCTATGAATGAAATGTTCCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation