Incidental Mutation 'R0840:Trim5'
ID |
77111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim5
|
Ensembl Gene |
ENSMUSG00000060441 |
Gene Name |
tripartite motif-containing 5 |
Synonyms |
|
MMRRC Submission |
039019-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R0840 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103912593-103937301 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103914978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 364
(W364R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
AlphaFold |
E9PV98 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051795
AA Change: W364R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000050084 Gene: ENSMUSG00000060441 AA Change: W364R
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
coiled coil region
|
172 |
232 |
N/A |
INTRINSIC |
Pfam:SPRY
|
349 |
485 |
9.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000060315
|
SMART Domains |
Protein: ENSMUSP00000055058 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
347 |
474 |
1e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098179
AA Change: W364R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095781 Gene: ENSMUSG00000060441 AA Change: W364R
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
Pfam:SPRY
|
351 |
493 |
1.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106848
|
SMART Domains |
Protein: ENSMUSP00000102461 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106849
|
SMART Domains |
Protein: ENSMUSP00000102462 Gene: ENSMUSG00000056144
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
6.79e-7 |
SMART |
BBOX
|
91 |
132 |
1.08e-9 |
SMART |
coiled coil region
|
194 |
238 |
N/A |
INTRINSIC |
Blast:PRY
|
299 |
343 |
2e-21 |
BLAST |
Pfam:SPRY
|
345 |
484 |
6.5e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217156
|
Meta Mutation Damage Score |
0.9423 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
G |
12: 71,205,657 (GRCm39) |
Q434E |
probably benign |
Het |
A930011G23Rik |
T |
C |
5: 99,382,547 (GRCm39) |
T234A |
probably benign |
Het |
Acot5 |
G |
A |
12: 84,122,614 (GRCm39) |
W399* |
probably null |
Het |
Adra1a |
A |
G |
14: 66,965,159 (GRCm39) |
E383G |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,982,427 (GRCm39) |
I1237N |
probably damaging |
Het |
Bsg |
A |
G |
10: 79,545,519 (GRCm39) |
T28A |
probably damaging |
Het |
Cacna1i |
A |
T |
15: 80,243,150 (GRCm39) |
I436F |
possibly damaging |
Het |
Cd109 |
T |
C |
9: 78,571,612 (GRCm39) |
I417T |
probably benign |
Het |
Cep295 |
A |
T |
9: 15,245,611 (GRCm39) |
D948E |
probably benign |
Het |
Cfap92 |
G |
T |
6: 87,657,260 (GRCm39) |
|
noncoding transcript |
Het |
Clcn3 |
C |
A |
8: 61,382,188 (GRCm39) |
V467F |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,935,724 (GRCm39) |
S380G |
possibly damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dll4 |
T |
A |
2: 119,156,966 (GRCm39) |
N79K |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,529,134 (GRCm39) |
N1558I |
unknown |
Het |
Fblim1 |
A |
G |
4: 141,308,320 (GRCm39) |
F330L |
possibly damaging |
Het |
Fbxo46 |
T |
A |
7: 18,871,073 (GRCm39) |
M564K |
possibly damaging |
Het |
Fnip1 |
T |
A |
11: 54,384,007 (GRCm39) |
|
probably benign |
Het |
Foxl2 |
A |
T |
9: 98,837,984 (GRCm39) |
K91* |
probably null |
Het |
Gapvd1 |
C |
A |
2: 34,619,125 (GRCm39) |
V83F |
probably benign |
Het |
Guk1 |
G |
A |
11: 59,075,921 (GRCm39) |
R146C |
probably damaging |
Het |
Irf8 |
G |
A |
8: 121,480,220 (GRCm39) |
G153S |
probably benign |
Het |
Kcnu1 |
T |
A |
8: 26,403,712 (GRCm39) |
M1K |
probably null |
Het |
Krt32 |
G |
A |
11: 99,972,068 (GRCm39) |
P427S |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,739,554 (GRCm39) |
S529P |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,300,021 (GRCm39) |
V134A |
probably damaging |
Het |
Morc2b |
G |
T |
17: 33,355,086 (GRCm39) |
H895Q |
probably benign |
Het |
Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 90,298,567 (GRCm39) |
S1367G |
possibly damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,463 (GRCm39) |
F7S |
probably benign |
Het |
Or56b1b |
A |
T |
7: 108,164,823 (GRCm39) |
S60T |
probably benign |
Het |
Pcnx3 |
T |
A |
19: 5,735,729 (GRCm39) |
|
probably null |
Het |
Pgap2 |
A |
T |
7: 101,886,655 (GRCm39) |
M226L |
probably damaging |
Het |
Pik3c2g |
A |
G |
6: 139,841,798 (GRCm39) |
I616M |
probably damaging |
Het |
Pisd |
A |
G |
5: 32,894,656 (GRCm39) |
I380T |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,420,745 (GRCm39) |
I2454V |
probably damaging |
Het |
Plpp2 |
A |
G |
10: 79,363,378 (GRCm39) |
I151T |
probably benign |
Het |
Polr3a |
G |
A |
14: 24,502,268 (GRCm39) |
T1295I |
possibly damaging |
Het |
Pot1a |
T |
C |
6: 25,748,283 (GRCm39) |
|
probably benign |
Het |
Prpf39 |
T |
G |
12: 65,094,980 (GRCm39) |
N219K |
probably benign |
Het |
Rnf17 |
T |
A |
14: 56,712,904 (GRCm39) |
N790K |
probably damaging |
Het |
Slit3 |
C |
T |
11: 35,514,263 (GRCm39) |
|
probably benign |
Het |
Stx1a |
T |
A |
5: 135,070,088 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
C |
A |
8: 48,788,777 (GRCm39) |
V690F |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,414,633 (GRCm39) |
I143V |
probably benign |
Het |
Tmem41b |
G |
A |
7: 109,580,256 (GRCm39) |
S36F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,617,155 (GRCm39) |
Y16403C |
probably damaging |
Het |
Vps8 |
T |
C |
16: 21,275,071 (GRCm39) |
S210P |
probably damaging |
Het |
Zbtb3 |
T |
A |
19: 8,780,821 (GRCm39) |
S145T |
possibly damaging |
Het |
Zfp882 |
T |
A |
8: 72,668,530 (GRCm39) |
C452* |
probably null |
Het |
|
Other mutations in Trim5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01702:Trim5
|
APN |
7 |
103,928,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02165:Trim5
|
APN |
7 |
103,928,566 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02576:Trim5
|
APN |
7 |
103,927,624 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02660:Trim5
|
APN |
7 |
103,915,425 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02732:Trim5
|
APN |
7 |
103,927,672 (GRCm39) |
missense |
probably benign |
0.02 |
R0278:Trim5
|
UTSW |
7 |
103,928,882 (GRCm39) |
missense |
probably benign |
0.00 |
R0373:Trim5
|
UTSW |
7 |
103,914,891 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Trim5
|
UTSW |
7 |
103,914,811 (GRCm39) |
missense |
probably null |
0.98 |
R0947:Trim5
|
UTSW |
7 |
103,914,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R1432:Trim5
|
UTSW |
7 |
103,928,728 (GRCm39) |
missense |
probably benign |
|
R1432:Trim5
|
UTSW |
7 |
103,928,726 (GRCm39) |
missense |
probably benign |
0.04 |
R1770:Trim5
|
UTSW |
7 |
103,925,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Trim5
|
UTSW |
7 |
103,915,023 (GRCm39) |
splice site |
probably null |
|
R1988:Trim5
|
UTSW |
7 |
103,914,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R2140:Trim5
|
UTSW |
7 |
103,925,998 (GRCm39) |
nonsense |
probably null |
|
R3110:Trim5
|
UTSW |
7 |
103,928,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3112:Trim5
|
UTSW |
7 |
103,928,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Trim5
|
UTSW |
7 |
103,926,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R3948:Trim5
|
UTSW |
7 |
103,915,727 (GRCm39) |
nonsense |
probably null |
|
R4114:Trim5
|
UTSW |
7 |
103,914,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R4249:Trim5
|
UTSW |
7 |
103,926,022 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4352:Trim5
|
UTSW |
7 |
103,926,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R4595:Trim5
|
UTSW |
7 |
103,914,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Trim5
|
UTSW |
7 |
103,914,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Trim5
|
UTSW |
7 |
103,926,042 (GRCm39) |
missense |
probably damaging |
0.98 |
R5861:Trim5
|
UTSW |
7 |
103,928,728 (GRCm39) |
missense |
probably benign |
|
R5861:Trim5
|
UTSW |
7 |
103,928,726 (GRCm39) |
missense |
probably benign |
0.04 |
R7027:Trim5
|
UTSW |
7 |
103,914,875 (GRCm39) |
missense |
probably benign |
0.00 |
R7078:Trim5
|
UTSW |
7 |
103,927,681 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7150:Trim5
|
UTSW |
7 |
103,926,017 (GRCm39) |
missense |
probably damaging |
0.96 |
R7657:Trim5
|
UTSW |
7 |
103,925,884 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7660:Trim5
|
UTSW |
7 |
103,928,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R7737:Trim5
|
UTSW |
7 |
103,928,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Trim5
|
UTSW |
7 |
103,927,633 (GRCm39) |
missense |
probably benign |
0.32 |
R7861:Trim5
|
UTSW |
7 |
103,915,675 (GRCm39) |
critical splice donor site |
probably null |
|
R8167:Trim5
|
UTSW |
7 |
103,927,630 (GRCm39) |
missense |
probably damaging |
0.99 |
R8220:Trim5
|
UTSW |
7 |
103,926,033 (GRCm39) |
missense |
probably damaging |
0.96 |
R8296:Trim5
|
UTSW |
7 |
103,914,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R8555:Trim5
|
UTSW |
7 |
103,927,330 (GRCm39) |
splice site |
probably null |
|
Z1088:Trim5
|
UTSW |
7 |
103,915,432 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCCTGTGAAAGGACACTCCTC -3'
(R):5'- TGCACAAAGTTCTCTCCAGTGCC -3'
Sequencing Primer
(F):5'- TGTGAAAGGACACTCCTCAAAAG -3'
(R):5'- CGTCACAGATAAGGATGTTTCCTG -3'
|
Posted On |
2013-10-16 |