Incidental Mutation 'R3957:Trim30d'
| ID |
310756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim30d
|
| Ensembl Gene |
ENSMUSG00000057596 |
| Gene Name |
tripartite motif-containing 30D |
| Synonyms |
TRIM30-3, Trim79 |
| MMRRC Submission |
040931-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3957 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104119221-104157056 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104121728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 339
(G339D)
|
| 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: G339D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033211
Gene: ENSMUSG00000057596
AA Change: G339D
| 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 |
possibly damaging
Transcript: ENSMUST00000071069
AA Change: G189D
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065020
Gene: ENSMUSG00000057596
AA Change: G189D
| 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: G112D
|
| SMART Domains |
Protein: ENSMUSP00000115684
Gene: ENSMUSG00000057596
AA Change: G112D
| 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 |
0.7308 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
| Acsm4 |
A |
T |
7: 119,302,588 (GRCm39) |
M238L |
possibly damaging |
Het |
| Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,117,012 (GRCm39) |
I579L |
probably benign |
Het |
| Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
| Cdan1 |
A |
G |
2: 120,556,113 (GRCm39) |
Y718H |
probably damaging |
Het |
| Cdan1 |
G |
A |
2: 120,561,501 (GRCm39) |
|
probably benign |
Het |
| Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
| Dach1 |
T |
C |
14: 98,077,545 (GRCm39) |
T561A |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
| Dhx29 |
C |
T |
13: 113,067,455 (GRCm39) |
A112V |
probably benign |
Het |
| Fanca |
G |
A |
8: 124,043,102 (GRCm39) |
R95C |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,495 (GRCm39) |
N3382K |
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,252,489 (GRCm39) |
F290L |
probably benign |
Het |
| Fkbp8 |
T |
G |
8: 70,987,517 (GRCm39) |
S376A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,300 (GRCm39) |
Q97L |
probably damaging |
Het |
| Igkv15-103 |
A |
T |
6: 68,414,903 (GRCm39) |
Y114F |
probably benign |
Het |
| Kera |
G |
A |
10: 97,448,707 (GRCm39) |
R309H |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
T |
C |
2: 33,459,106 (GRCm39) |
E149G |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,980,589 (GRCm39) |
S307R |
probably damaging |
Het |
| Mettl25b |
T |
C |
3: 87,834,135 (GRCm39) |
K116R |
possibly damaging |
Het |
| Mocs2 |
T |
A |
13: 114,961,803 (GRCm39) |
|
probably null |
Het |
| Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
| Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
| Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d43 |
A |
G |
2: 88,105,348 (GRCm39) |
F15S |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
| Pan2 |
C |
T |
10: 128,151,046 (GRCm39) |
R806C |
probably damaging |
Het |
| Plod3 |
A |
T |
5: 137,023,046 (GRCm39) |
H616L |
probably damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
| Tdrkh |
A |
G |
3: 94,335,556 (GRCm39) |
N383S |
probably damaging |
Het |
| Trub1 |
G |
A |
19: 57,473,798 (GRCm39) |
A239T |
possibly damaging |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
| Usp3 |
T |
C |
9: 66,469,873 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,089 (GRCm39) |
S957P |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,395 (GRCm39) |
T722A |
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 |
|
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 |
|
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'- AGCCACATTTAGGCTGAAACG -3'
(R):5'- GACTTTAAACAAGGCTTCTCCG -3'
Sequencing Primer
(F):5'- CATTTAGGCTGAAACGTTACATTTTG -3'
(R):5'- GCTTAAGTTACAAATAAGGCTGTACC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation