Incidental Mutation 'R4596:Trim30d'
| ID |
344389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30d
|
| Ensembl Gene |
ENSMUSG00000057596 |
| Gene Name |
tripartite motif-containing 30D |
| Synonyms |
TRIM30-3, Trim79 |
| MMRRC Submission |
041812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R4596 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104119221-104157056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104121733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 337
(H337Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033211
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033211]
[ENSMUST00000071069]
|
| AlphaFold |
E9PWL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033211
AA Change: H337Q
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000033211
Gene: ENSMUSG00000057596
AA Change: H337Q
| 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
AA Change: H187Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000065020
Gene: ENSMUSG00000057596
AA Change: H187Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
84 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
198 |
346 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000141063
AA Change: H110Q
|
| SMART Domains |
Protein: ENSMUSP00000115684
Gene: ENSMUSG00000057596
AA Change: H110Q
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4B3N|B
|
58 |
197 |
3e-19 |
PDB |
|
Blast:SPRY
|
122 |
209 |
4e-13 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,088 (GRCm39) |
K429E |
probably benign |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adad1 |
T |
C |
3: 37,119,341 (GRCm39) |
S141P |
probably damaging |
Het |
| Anapc4 |
T |
C |
5: 52,999,060 (GRCm39) |
V124A |
probably benign |
Het |
| Anxa6 |
G |
T |
11: 54,885,409 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Arhgef40 |
T |
C |
14: 52,224,681 (GRCm39) |
|
probably null |
Het |
| Asz1 |
A |
T |
6: 18,103,592 (GRCm39) |
I116K |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,498,082 (GRCm39) |
N314D |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,149 (GRCm39) |
V376A |
probably damaging |
Het |
| Cipc |
A |
G |
12: 87,008,728 (GRCm39) |
T196A |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,961,189 (GRCm39) |
V225A |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,448,940 (GRCm39) |
P1217S |
unknown |
Het |
| Dync2h1 |
C |
T |
9: 6,992,595 (GRCm39) |
D3996N |
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,838 (GRCm39) |
N6S |
probably benign |
Het |
| Fhod3 |
A |
T |
18: 25,248,775 (GRCm39) |
Q1318L |
probably benign |
Het |
| Gmps |
G |
T |
3: 63,901,338 (GRCm39) |
E386* |
probably null |
Het |
| Hspa13 |
C |
T |
16: 75,555,114 (GRCm39) |
G324D |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,898,092 (GRCm39) |
V81A |
probably benign |
Het |
| Itgb1bp1 |
C |
A |
12: 21,322,135 (GRCm39) |
L101F |
probably damaging |
Het |
| Jak3 |
T |
A |
8: 72,137,275 (GRCm39) |
S779T |
probably damaging |
Het |
| Klhl21 |
G |
T |
4: 152,096,997 (GRCm39) |
R421L |
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,422 (GRCm39) |
F212S |
probably damaging |
Het |
| Msl3l2 |
T |
A |
10: 55,991,741 (GRCm39) |
F155L |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,078,132 (GRCm39) |
K406E |
possibly damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,262 (GRCm39) |
H933L |
probably damaging |
Het |
| Or4c31 |
A |
G |
2: 88,292,538 (GRCm39) |
T304A |
probably benign |
Het |
| Or51h5 |
A |
G |
7: 102,577,458 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or6f1 |
A |
T |
7: 85,970,631 (GRCm39) |
H176Q |
probably damaging |
Het |
| Or9q2 |
G |
A |
19: 13,772,264 (GRCm39) |
T237I |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,827,435 (GRCm39) |
I467V |
probably benign |
Het |
| Pcdha8 |
A |
C |
18: 37,126,611 (GRCm39) |
Q364H |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,652 (GRCm39) |
T948A |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,507,430 (GRCm39) |
V311D |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,671,558 (GRCm39) |
Y495C |
probably benign |
Het |
| Sec61g |
A |
T |
11: 16,458,127 (GRCm39) |
S23T |
probably benign |
Het |
| Sema3a |
G |
T |
5: 13,620,125 (GRCm39) |
V458F |
probably damaging |
Het |
| Slc16a14 |
T |
A |
1: 84,907,078 (GRCm39) |
E65D |
probably damaging |
Het |
| Slc35f6 |
T |
C |
5: 30,805,406 (GRCm39) |
M14T |
probably damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,127,202 (GRCm39) |
I882F |
probably damaging |
Het |
| Sox17 |
C |
A |
1: 4,562,860 (GRCm39) |
E48D |
possibly damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,236 (GRCm39) |
I270F |
possibly damaging |
Het |
| Tia1 |
A |
G |
6: 86,397,389 (GRCm39) |
I121V |
probably benign |
Het |
| Tvp23b |
G |
A |
11: 62,774,544 (GRCm39) |
A63T |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,367,681 (GRCm39) |
V437I |
probably damaging |
Het |
| Ube2i |
T |
C |
17: 25,484,298 (GRCm39) |
|
probably benign |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,306 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,060,183 (GRCm39) |
S310F |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,058,887 (GRCm39) |
M327L |
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 |
|
R4086:Trim30d
|
UTSW |
7 |
104,137,007 (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 |
|
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'- AGCCACATTTAGGCTGAAACG -3'
(R):5'- GACTTTAAACAAGGCTTCTCCG -3'
Sequencing Primer
(F):5'- CATTTAGGCTGAAACGTTACATTTTG -3'
(R):5'- GCTTAAGTTACAAATAAGGCTGTACC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation