Incidental Mutation 'IGL02732:Trim5'
| ID |
305483 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim5
|
| Ensembl Gene |
ENSMUSG00000060441 |
| Gene Name |
tripartite motif-containing 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103912593-103937301 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103927672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 156
(E156V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051795]
[ENSMUST00000098179]
|
| AlphaFold |
E9PV98 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051795
AA Change: E156V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000050084
Gene: ENSMUSG00000060441
AA Change: E156V
| 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: ENSMUST00000098179
AA Change: E156V
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000095781
Gene: ENSMUSG00000060441
AA Change: E156V
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
C |
A |
13: 107,551,123 (GRCm39) |
|
noncoding transcript |
Het |
| Ash1l |
T |
A |
3: 88,873,535 (GRCm39) |
V106E |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,044 (GRCm39) |
T1618A |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,383,045 (GRCm39) |
S1732P |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,392,955 (GRCm39) |
I813N |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,184,902 (GRCm39) |
R1183* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,564,440 (GRCm39) |
E1479K |
probably damaging |
Het |
| Cep68 |
A |
T |
11: 20,186,109 (GRCm39) |
|
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,522,590 (GRCm39) |
V750I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,209,375 (GRCm39) |
T271A |
probably benign |
Het |
| Cyb5d1 |
A |
C |
11: 69,284,635 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
A |
G |
2: 156,591,243 (GRCm39) |
K120E |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,186,098 (GRCm39) |
I75V |
possibly damaging |
Het |
| Fnip2 |
T |
C |
3: 79,373,004 (GRCm39) |
T995A |
probably damaging |
Het |
| Hecw2 |
G |
A |
1: 53,965,847 (GRCm39) |
|
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,809,376 (GRCm39) |
F111I |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,127,088 (GRCm39) |
M722R |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,449,114 (GRCm39) |
D165G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,287,227 (GRCm39) |
C26S |
probably benign |
Het |
| Mdp1 |
T |
C |
14: 55,896,678 (GRCm39) |
I128V |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,966,164 (GRCm39) |
F385L |
possibly damaging |
Het |
| Nebl |
C |
T |
2: 17,457,295 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,466,061 (GRCm39) |
E227G |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,652 (GRCm39) |
S227P |
probably damaging |
Het |
| Or51m1 |
T |
G |
7: 103,578,336 (GRCm39) |
M102R |
probably damaging |
Het |
| Or52e3 |
A |
C |
7: 102,869,447 (GRCm39) |
N174T |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,486 (GRCm39) |
H595L |
probably benign |
Het |
| Pate5 |
C |
T |
9: 35,750,345 (GRCm39) |
G109D |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 80,944,864 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,355,192 (GRCm39) |
N91S |
probably damaging |
Het |
| Ptpn22 |
A |
T |
3: 103,793,349 (GRCm39) |
E500V |
probably damaging |
Het |
| Ptprg |
G |
T |
14: 12,225,617 (GRCm38) |
|
probably null |
Het |
| R3hdm2 |
T |
C |
10: 127,319,929 (GRCm39) |
F513L |
probably benign |
Het |
| Ramac |
T |
C |
7: 81,417,473 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
C |
A |
13: 76,059,056 (GRCm39) |
L247F |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,469,756 (GRCm39) |
S434P |
probably benign |
Het |
| Serpinb3d |
T |
A |
1: 107,010,526 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
C |
8: 73,460,081 (GRCm39) |
F223L |
possibly damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,370,548 (GRCm39) |
V263A |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,596 (GRCm39) |
S207P |
possibly damaging |
Het |
| Sqor |
A |
T |
2: 122,641,682 (GRCm39) |
T1S |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,328,602 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,626 (GRCm39) |
V2108A |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,493,454 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Trdn |
G |
A |
10: 33,344,195 (GRCm39) |
|
probably null |
Het |
| Twf1 |
A |
G |
15: 94,478,890 (GRCm39) |
S273P |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,164 (GRCm39) |
V320A |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation