Incidental Mutation 'R4087:Trim30d'
ID |
317419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim30d
|
Ensembl Gene |
ENSMUSG00000057596 |
Gene Name |
tripartite motif-containing 30D |
Synonyms |
TRIM30-3, Trim79 |
MMRRC Submission |
040980-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
104119221-104157056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104137007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 66
(N66D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033211
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033211]
[ENSMUST00000071069]
|
AlphaFold |
E9PWL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033211
AA Change: N66D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033211 Gene: ENSMUSG00000057596 AA Change: N66D
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
1.72e-8 |
SMART |
BBOX
|
91 |
132 |
5.25e-13 |
SMART |
low complexity region
|
196 |
228 |
N/A |
INTRINSIC |
Pfam:SPRY
|
350 |
491 |
1.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071069
|
SMART Domains |
Protein: ENSMUSP00000065020 Gene: ENSMUSG00000057596
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
84 |
N/A |
INTRINSIC |
Pfam:SPRY
|
198 |
346 |
1.1e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141063
|
SMART Domains |
Protein: ENSMUSP00000115684 Gene: ENSMUSG00000057596
Domain | Start | End | E-Value | Type |
PDB:4B3N|B
|
58 |
197 |
3e-19 |
PDB |
Blast:SPRY
|
122 |
209 |
4e-13 |
BLAST |
|
Meta Mutation Damage Score |
0.2947 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.3%
|
Validation Efficiency |
96% (50/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Col6a6 |
A |
T |
9: 105,661,155 (GRCm39) |
I318N |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dym |
T |
A |
18: 75,363,172 (GRCm39) |
Y559N |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,248 (GRCm39) |
V59A |
possibly damaging |
Het |
Fam171a1 |
G |
A |
2: 3,227,333 (GRCm39) |
R697Q |
probably damaging |
Het |
Fermt3 |
T |
A |
19: 6,980,945 (GRCm39) |
|
probably null |
Het |
Git2 |
A |
G |
5: 114,902,466 (GRCm39) |
Y189H |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm7713 |
C |
T |
15: 59,866,258 (GRCm39) |
|
noncoding transcript |
Het |
Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
Itprid2 |
C |
T |
2: 79,488,691 (GRCm39) |
Q925* |
probably null |
Het |
Kcnh8 |
T |
C |
17: 53,110,428 (GRCm39) |
I213T |
possibly damaging |
Het |
Lpgat1 |
A |
T |
1: 191,495,728 (GRCm39) |
I306F |
possibly damaging |
Het |
Mapk8 |
T |
C |
14: 33,112,205 (GRCm39) |
T228A |
probably benign |
Het |
Med12l |
T |
C |
3: 59,205,342 (GRCm39) |
V2101A |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,375,771 (GRCm39) |
K19E |
possibly damaging |
Het |
Mta1 |
A |
G |
12: 113,075,802 (GRCm39) |
Y22C |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,377,087 (GRCm39) |
T273A |
possibly damaging |
Het |
Notch4 |
T |
C |
17: 34,803,409 (GRCm39) |
W1443R |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,134,697 (GRCm39) |
D32V |
probably damaging |
Het |
Or8k36-ps1 |
C |
A |
2: 86,437,297 (GRCm39) |
*206L |
probably null |
Het |
Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
Rnf144a |
C |
T |
12: 26,377,591 (GRCm39) |
V51I |
probably damaging |
Het |
Rxfp1 |
T |
A |
3: 79,552,256 (GRCm39) |
T682S |
probably damaging |
Het |
Sertad2 |
GCCCC |
GCCCCC |
11: 20,598,664 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
Tdrd9 |
C |
T |
12: 111,979,920 (GRCm39) |
Q256* |
probably null |
Het |
Tmprss11d |
A |
T |
5: 86,457,138 (GRCm39) |
S174T |
probably damaging |
Het |
Tor1b |
T |
A |
2: 30,846,531 (GRCm39) |
I238N |
probably damaging |
Het |
Tppp2 |
T |
C |
14: 52,156,957 (GRCm39) |
|
probably null |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,350,651 (GRCm39) |
N46S |
possibly damaging |
Het |
Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,357,380 (GRCm39) |
|
probably null |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
|
Other mutations in Trim30d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01620:Trim30d
|
APN |
7 |
104,121,333 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01818:Trim30d
|
APN |
7 |
104,121,267 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02552:Trim30d
|
APN |
7 |
104,121,623 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03000:Trim30d
|
APN |
7 |
104,122,476 (GRCm39) |
missense |
probably benign |
0.26 |
R0608:Trim30d
|
UTSW |
7 |
104,121,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R0629:Trim30d
|
UTSW |
7 |
104,136,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R1390:Trim30d
|
UTSW |
7 |
104,132,610 (GRCm39) |
missense |
probably benign |
0.41 |
R1460:Trim30d
|
UTSW |
7 |
104,121,311 (GRCm39) |
missense |
probably benign |
0.00 |
R1474:Trim30d
|
UTSW |
7 |
104,121,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R1701:Trim30d
|
UTSW |
7 |
104,133,389 (GRCm39) |
nonsense |
probably null |
|
R1799:Trim30d
|
UTSW |
7 |
104,132,682 (GRCm39) |
missense |
probably damaging |
0.98 |
R2295:Trim30d
|
UTSW |
7 |
104,137,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R3898:Trim30d
|
UTSW |
7 |
104,132,736 (GRCm39) |
missense |
probably benign |
0.01 |
R3953:Trim30d
|
UTSW |
7 |
104,121,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Trim30d
|
UTSW |
7 |
104,121,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R3955:Trim30d
|
UTSW |
7 |
104,121,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R3957:Trim30d
|
UTSW |
7 |
104,121,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R4086:Trim30d
|
UTSW |
7 |
104,137,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R4089:Trim30d
|
UTSW |
7 |
104,137,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R4580:Trim30d
|
UTSW |
7 |
104,121,765 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4596:Trim30d
|
UTSW |
7 |
104,121,733 (GRCm39) |
missense |
probably benign |
0.02 |
R4926:Trim30d
|
UTSW |
7 |
104,132,564 (GRCm39) |
missense |
probably benign |
0.09 |
R5071:Trim30d
|
UTSW |
7 |
104,137,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Trim30d
|
UTSW |
7 |
104,137,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Trim30d
|
UTSW |
7 |
104,121,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R5477:Trim30d
|
UTSW |
7 |
104,121,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Trim30d
|
UTSW |
7 |
104,137,136 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5743:Trim30d
|
UTSW |
7 |
104,121,535 (GRCm39) |
nonsense |
probably null |
|
R6178:Trim30d
|
UTSW |
7 |
104,137,202 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R6244:Trim30d
|
UTSW |
7 |
104,136,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R6937:Trim30d
|
UTSW |
7 |
104,132,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R7014:Trim30d
|
UTSW |
7 |
104,132,543 (GRCm39) |
missense |
probably benign |
0.01 |
R7323:Trim30d
|
UTSW |
7 |
104,132,555 (GRCm39) |
missense |
probably benign |
0.41 |
R7659:Trim30d
|
UTSW |
7 |
104,121,554 (GRCm39) |
missense |
probably benign |
0.01 |
R7982:Trim30d
|
UTSW |
7 |
104,121,817 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8353:Trim30d
|
UTSW |
7 |
104,136,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R8453:Trim30d
|
UTSW |
7 |
104,136,947 (GRCm39) |
missense |
probably damaging |
0.99 |
X0026:Trim30d
|
UTSW |
7 |
104,137,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCTGTTTGGTGACCACTG -3'
(R):5'- ACAGCAACTATGGCCTCATC -3'
Sequencing Primer
(F):5'- ACCACTGTGCTCCTGGGATTG -3'
(R):5'- CCTCATCAGTCCTGGAGATGATAAAG -3'
|
Posted On |
2015-05-15 |