Incidental Mutation 'R4769:Trim45'
| ID |
366317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim45
|
| Ensembl Gene |
ENSMUSG00000033233 |
| Gene Name |
tripartite motif-containing 45 |
| Synonyms |
4921530N01Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4769 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 100839050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037409]
[ENSMUST00000094048]
[ENSMUST00000106980]
[ENSMUST00000134993]
|
| AlphaFold |
Q6PFY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037409
|
| SMART Domains |
Protein: ENSMUSP00000043389
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
low complexity region
|
532 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094048
|
| SMART Domains |
Protein: ENSMUSP00000091590
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
81 |
127 |
1.03e-1 |
SMART |
|
BBOX
|
137 |
178 |
4.34e-5 |
SMART |
|
BBC
|
185 |
311 |
3.55e-9 |
SMART |
|
IG_FLMN
|
349 |
451 |
7.63e-33 |
SMART |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106980
|
| SMART Domains |
Protein: ENSMUSP00000102593
Gene: ENSMUSG00000033233
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
low complexity region
|
532 |
549 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134993
AA Change: H651N
|
| SMART Domains |
Protein: ENSMUSP00000115669
Gene: ENSMUSG00000033233
AA Change: H651N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163914
AA Change: H651N
|
| SMART Domains |
Protein: ENSMUSP00000129861
Gene: ENSMUSG00000033233
AA Change: H651N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
29 |
97 |
5.35e-5 |
SMART |
|
BBOX
|
130 |
176 |
1.03e-1 |
SMART |
|
BBOX
|
186 |
227 |
4.34e-5 |
SMART |
|
BBC
|
234 |
360 |
3.55e-9 |
SMART |
|
IG_FLMN
|
398 |
500 |
7.63e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,382,174 (GRCm39) |
S1264A |
probably benign |
Het |
| Adamts13 |
T |
G |
2: 26,898,723 (GRCm39) |
Y1361* |
probably null |
Het |
| Ahrr |
A |
T |
13: 74,362,331 (GRCm39) |
D389E |
probably damaging |
Het |
| Alx3 |
T |
C |
3: 107,508,007 (GRCm39) |
F172S |
probably damaging |
Het |
| Antxrl |
A |
G |
14: 33,795,027 (GRCm39) |
H485R |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,298,307 (GRCm39) |
D1091G |
probably null |
Het |
| Btbd1 |
T |
A |
7: 81,455,558 (GRCm39) |
Q271L |
probably benign |
Het |
| Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
| Cdc14a |
C |
T |
3: 116,088,399 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,953,912 (GRCm39) |
M1641V |
probably benign |
Het |
| Clec2e |
G |
A |
6: 129,077,790 (GRCm39) |
T16I |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,556,219 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,337,444 (GRCm39) |
F517I |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,758,837 (GRCm39) |
N646S |
probably damaging |
Het |
| Ephx1 |
T |
A |
1: 180,823,543 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Etfa |
A |
T |
9: 55,403,051 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,368,571 (GRCm39) |
F1084I |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,868,411 (GRCm39) |
|
probably null |
Het |
| Ift81 |
G |
T |
5: 122,732,656 (GRCm39) |
H293N |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Il6 |
T |
G |
5: 30,223,076 (GRCm39) |
L114* |
probably null |
Het |
| Ism2 |
A |
T |
12: 87,346,355 (GRCm39) |
M42K |
probably benign |
Het |
| Lhx5 |
A |
G |
5: 120,574,503 (GRCm39) |
E269G |
probably benign |
Het |
| Marveld1 |
T |
G |
19: 42,136,434 (GRCm39) |
M116R |
possibly damaging |
Het |
| Micall2 |
A |
G |
5: 139,692,641 (GRCm39) |
S911P |
probably damaging |
Het |
| Mier1 |
G |
A |
4: 102,997,417 (GRCm39) |
R195H |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,286,260 (GRCm39) |
|
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,336,466 (GRCm39) |
K486R |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,162,708 (GRCm39) |
L179R |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,081,310 (GRCm39) |
Q1171* |
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,408,000 (GRCm39) |
I78F |
probably damaging |
Het |
| Or5d36 |
T |
G |
2: 87,901,073 (GRCm39) |
T218P |
probably benign |
Het |
| Or6y1 |
T |
G |
1: 174,276,524 (GRCm39) |
F112V |
possibly damaging |
Het |
| Plek2 |
C |
T |
12: 78,953,664 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,477,325 (GRCm39) |
H339R |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,184,495 (GRCm39) |
C835Y |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,927,852 (GRCm39) |
I868V |
probably benign |
Het |
| Prss54 |
C |
A |
8: 96,286,003 (GRCm39) |
V357L |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,855,727 (GRCm39) |
S625T |
probably damaging |
Het |
| Rgs1 |
A |
T |
1: 144,123,667 (GRCm39) |
L86Q |
probably damaging |
Het |
| Ripk4 |
T |
A |
16: 97,545,262 (GRCm39) |
N462Y |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,325,429 (GRCm39) |
L1011F |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,997,062 (GRCm39) |
T382I |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Umodl1 |
G |
T |
17: 31,202,976 (GRCm39) |
R443M |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,597 (GRCm39) |
R87K |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Zeb2 |
T |
G |
2: 44,886,447 (GRCm39) |
E825A |
probably damaging |
Het |
| Zfp930 |
A |
T |
8: 69,679,344 (GRCm39) |
I50F |
probably benign |
Het |
|
| Other mutations in Trim45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Trim45
|
APN |
3 |
100,839,042 (GRCm39) |
intron |
probably benign |
|
|
IGL01472:Trim45
|
APN |
3 |
100,835,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01996:Trim45
|
APN |
3 |
100,835,425 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02392:Trim45
|
APN |
3 |
100,832,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03229:Trim45
|
APN |
3 |
100,830,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Trim45
|
UTSW |
3 |
100,838,943 (GRCm39) |
intron |
probably benign |
|
|
R0021:Trim45
|
UTSW |
3 |
100,832,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Trim45
|
UTSW |
3 |
100,837,160 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0501:Trim45
|
UTSW |
3 |
100,830,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Trim45
|
UTSW |
3 |
100,834,614 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1418:Trim45
|
UTSW |
3 |
100,834,614 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1813:Trim45
|
UTSW |
3 |
100,830,283 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2148:Trim45
|
UTSW |
3 |
100,839,360 (GRCm39) |
nonsense |
probably null |
|
|
R2383:Trim45
|
UTSW |
3 |
100,832,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4368:Trim45
|
UTSW |
3 |
100,830,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Trim45
|
UTSW |
3 |
100,832,804 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5030:Trim45
|
UTSW |
3 |
100,835,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5272:Trim45
|
UTSW |
3 |
100,837,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5298:Trim45
|
UTSW |
3 |
100,832,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5498:Trim45
|
UTSW |
3 |
100,832,457 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5589:Trim45
|
UTSW |
3 |
100,837,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Trim45
|
UTSW |
3 |
100,832,712 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6850:Trim45
|
UTSW |
3 |
100,830,541 (GRCm39) |
nonsense |
probably null |
|
|
R7009:Trim45
|
UTSW |
3 |
100,839,195 (GRCm39) |
intron |
probably benign |
|
|
R7122:Trim45
|
UTSW |
3 |
100,839,353 (GRCm39) |
missense |
unknown |
|
|
R7583:Trim45
|
UTSW |
3 |
100,832,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Trim45
|
UTSW |
3 |
100,834,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8368:Trim45
|
UTSW |
3 |
100,830,672 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8924:Trim45
|
UTSW |
3 |
100,835,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Trim45
|
UTSW |
3 |
100,838,960 (GRCm39) |
missense |
unknown |
|
|
R8999:Trim45
|
UTSW |
3 |
100,838,960 (GRCm39) |
missense |
unknown |
|
|
R9069:Trim45
|
UTSW |
3 |
100,832,440 (GRCm39) |
nonsense |
probably null |
|
|
R9368:Trim45
|
UTSW |
3 |
100,832,319 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9594:Trim45
|
UTSW |
3 |
100,830,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9634:Trim45
|
UTSW |
3 |
100,839,306 (GRCm39) |
missense |
unknown |
|
|
R9651:Trim45
|
UTSW |
3 |
100,832,705 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Trim45
|
UTSW |
3 |
100,839,083 (GRCm39) |
intron |
probably benign |
|
|
Z1088:Trim45
|
UTSW |
3 |
100,832,956 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTGAGAAGTCCGAGTGC -3'
(R):5'- ACTCTAGCTCGGGGTAAACC -3'
Sequencing Primer
(F):5'- AGGAGTCTGCTTAGGACCG -3'
(R):5'- ACCGGAGAGGCTGCAACAC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation