Incidental Mutation 'R5477:Trim30d'
ID |
434116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim30d
|
Ensembl Gene |
ENSMUSG00000057596 |
Gene Name |
tripartite motif-containing 30D |
Synonyms |
TRIM30-3, Trim79 |
MMRRC Submission |
043038-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R5477 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
104119221-104157056 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104121347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 316
(Y316F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033211]
[ENSMUST00000071069]
|
AlphaFold |
E9PWL0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033211
AA Change: Y466F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033211 Gene: ENSMUSG00000057596 AA Change: Y466F
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 damaging
Transcript: ENSMUST00000071069
AA Change: Y316F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065020 Gene: ENSMUSG00000057596 AA Change: Y316F
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 |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
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 |
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 |
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'- AATCCACAGTGGTTTGGGATTAG -3'
(R):5'- CAGCCTAAATGTGGCTACTGG -3'
Sequencing Primer
(F):5'- AGGTCATTACAATAAAGGGCCC -3'
(R):5'- CCTAAATGTGGCTACTGGGTTATAG -3'
|
Posted On |
2016-10-06 |