Incidental Mutation 'R4086:Trim30d'
| ID |
317366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30d
|
| Ensembl Gene |
ENSMUSG00000057596 |
| Gene Name |
tripartite motif-containing 30D |
| Synonyms |
TRIM30-3, Trim79 |
| MMRRC Submission |
041625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4086 (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: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
G |
A |
2: 3,341,488 (GRCm39) |
|
probably null |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,042,414 (GRCm39) |
D427G |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,814,627 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,233,984 (GRCm39) |
I1103M |
probably benign |
Het |
| Arhgap32 |
A |
C |
9: 32,158,362 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,103,712 (GRCm39) |
R767G |
probably damaging |
Het |
| BC046251 |
A |
G |
7: 65,231,896 (GRCm39) |
|
noncoding transcript |
Het |
| Brwd1 |
T |
C |
16: 95,847,572 (GRCm39) |
S683G |
probably benign |
Het |
| Calcoco1 |
C |
G |
15: 102,618,834 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,444 (GRCm39) |
P834T |
possibly damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,167,192 (GRCm39) |
G1090R |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,510,833 (GRCm39) |
D30E |
probably damaging |
Het |
| Fam181b |
T |
C |
7: 92,729,788 (GRCm39) |
V187A |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,528 (GRCm39) |
R552Q |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,555,593 (GRCm39) |
C53F |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,395 (GRCm39) |
Y791C |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 110,091,121 (GRCm39) |
K458E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,428 (GRCm39) |
|
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,145 (GRCm39) |
T116I |
possibly damaging |
Het |
| Mafa |
T |
G |
15: 75,618,986 (GRCm39) |
K262N |
probably damaging |
Het |
| Nxph4 |
T |
C |
10: 127,362,555 (GRCm39) |
Y112C |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,170 (GRCm39) |
W24L |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,167 (GRCm39) |
V153A |
possibly damaging |
Het |
| Pgls |
G |
A |
8: 72,048,734 (GRCm39) |
A142T |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,274,891 (GRCm39) |
I885V |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,679 (GRCm39) |
D544G |
probably damaging |
Het |
| Rnf44 |
T |
C |
13: 54,830,148 (GRCm39) |
N254D |
possibly damaging |
Het |
| Septin10 |
A |
T |
10: 59,028,045 (GRCm39) |
L92* |
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,248,998 (GRCm39) |
I156N |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,701 (GRCm39) |
D623G |
possibly damaging |
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 |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ube2u |
T |
A |
4: 100,407,039 (GRCm39) |
I187N |
probably benign |
Het |
| Vmn1r90 |
G |
A |
7: 14,297,219 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xpo4 |
C |
T |
14: 57,880,490 (GRCm39) |
|
probably benign |
Het |
| Zbtb21 |
A |
T |
16: 97,753,963 (GRCm39) |
Y135N |
probably damaging |
Het |
| Zbtb22 |
T |
A |
17: 34,137,142 (GRCm39) |
V429D |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,317 (GRCm39) |
E643G |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,879 (GRCm39) |
H1469Y |
probably benign |
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 |
|
R4087: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'- TTTGGTGACCACTGTGCTC -3'
(R):5'- AGGATCACAGCAACTATGGCC -3'
Sequencing Primer
(F):5'- GCTCCTGGGATTGCTTACAAAG -3'
(R):5'- CCTCATCAGTCCTGGAGATGATAAAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation