Incidental Mutation 'R3948:Trim5'
ID |
307787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim5
|
Ensembl Gene |
ENSMUSG00000060441 |
Gene Name |
tripartite motif-containing 5 |
Synonyms |
|
MMRRC Submission |
040928-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R3948 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
103912593-103937301 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 103915727 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 273
(Q273*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095781
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000060315]
[ENSMUST00000098179]
[ENSMUST00000106848]
[ENSMUST00000106849]
|
AlphaFold |
E9PV98 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051795
AA Change: Q273*
|
SMART Domains |
Protein: ENSMUSP00000050084 Gene: ENSMUSG00000060441 AA Change: Q273*
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 null
Transcript: ENSMUST00000098179
AA Change: Q273*
|
SMART Domains |
Protein: ENSMUSP00000095781 Gene: ENSMUSG00000060441 AA Change: Q273*
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 |
probably benign
Transcript: ENSMUST00000138557
AA Change: T265I
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119127 Gene: ENSMUSG00000060441 AA Change: T265I
Domain | Start | End | E-Value | Type |
RING
|
15 |
58 |
3.64e-7 |
SMART |
BBOX
|
91 |
132 |
4.83e-12 |
SMART |
coiled coil region
|
173 |
232 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217156
|
Meta Mutation Damage Score |
0.9638 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
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 |
R0840:Trim5
|
UTSW |
7 |
103,914,978 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GGACAGTCATTTCCCACCTG -3'
(R):5'- GTAAGACCTTCCCAACACTTCG -3'
Sequencing Primer
(F):5'- GACAGTCATTTCCCACCTGAGATG -3'
(R):5'- ATTGTATTCATGTGACTGGCATCTC -3'
|
Posted On |
2015-04-17 |