Incidental Mutation 'R4089:Trim30d'
ID |
317508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim30d
|
Ensembl Gene |
ENSMUSG00000057596 |
Gene Name |
tripartite motif-containing 30D |
Synonyms |
TRIM30-3, Trim79 |
MMRRC Submission |
040982-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R4089 (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: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
Cbs |
A |
C |
17: 31,851,980 (GRCm39) |
C8G |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
Mindy3 |
T |
C |
2: 12,369,327 (GRCm39) |
M84V |
probably benign |
Het |
Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
Rgs6 |
A |
T |
12: 83,110,261 (GRCm39) |
E175D |
probably damaging |
Het |
Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
Trip4 |
A |
G |
9: 65,765,565 (GRCm39) |
V378A |
probably benign |
Het |
Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
Het |
Washc2 |
A |
T |
6: 116,233,253 (GRCm39) |
|
probably null |
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 |
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'- TTTGGTGACCACTGTGCTCC -3'
(R):5'- AGGATCACAGCAACTATGGC -3'
Sequencing Primer
(F):5'- GCTCCTGGGATTGCTTACAAAG -3'
(R):5'- CCTCATCAGTCCTGGAGATGATAAAG -3'
|
Posted On |
2015-05-15 |