Incidental Mutation 'R1222:Trim45'
ID |
152743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim45
|
Ensembl Gene |
ENSMUSG00000033233 |
Gene Name |
tripartite motif-containing 45 |
Synonyms |
4921530N01Rik |
MMRRC Submission |
039291-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1222 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 100834614 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 432
(M432I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037409]
[ENSMUST00000094048]
[ENSMUST00000106980]
[ENSMUST00000134993]
|
AlphaFold |
Q6PFY8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037409
AA Change: M432I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000043389 Gene: ENSMUSG00000033233 AA Change: M432I
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
AA Change: M383I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000091590 Gene: ENSMUSG00000033233 AA Change: M383I
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
AA Change: M432I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102593 Gene: ENSMUSG00000033233 AA Change: M432I
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: ENSMUST00000134993
AA Change: M432I
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115669 Gene: ENSMUSG00000033233 AA Change: M432I
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 |
probably benign
Transcript: ENSMUST00000163914
AA Change: M432I
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129861 Gene: ENSMUSG00000033233 AA Change: M432I
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 |
|
Meta Mutation Damage Score |
0.1312 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
96% (54/56) |
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 |
Aadacl2fm3 |
T |
A |
3: 59,784,682 (GRCm39) |
L385* |
probably null |
Het |
Abca9 |
T |
C |
11: 110,035,890 (GRCm39) |
|
probably benign |
Het |
Abl1 |
T |
C |
2: 31,691,006 (GRCm39) |
S842P |
probably benign |
Het |
Agrn |
C |
A |
4: 156,261,842 (GRCm39) |
V483L |
probably damaging |
Het |
Ankrd13a |
T |
A |
5: 114,938,824 (GRCm39) |
C365* |
probably null |
Het |
Ap2b1 |
T |
C |
11: 83,237,564 (GRCm39) |
S543P |
probably benign |
Het |
Atic |
C |
T |
1: 71,598,438 (GRCm39) |
T67I |
probably damaging |
Het |
Bhmt1b |
A |
G |
18: 87,775,458 (GRCm39) |
K327R |
probably damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cux1 |
C |
T |
5: 136,304,003 (GRCm39) |
R1391Q |
probably benign |
Het |
Cyp2a4 |
T |
C |
7: 26,008,013 (GRCm39) |
V140A |
possibly damaging |
Het |
Dlgap3 |
A |
T |
4: 127,088,406 (GRCm39) |
M1L |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,689,899 (GRCm39) |
D2G |
probably benign |
Het |
Erbb3 |
A |
C |
10: 128,407,534 (GRCm39) |
V938G |
probably damaging |
Het |
Fam13a |
C |
T |
6: 58,912,707 (GRCm39) |
|
probably benign |
Het |
Gata2 |
G |
A |
6: 88,177,323 (GRCm39) |
V118I |
probably benign |
Het |
Gm2663 |
T |
C |
6: 40,972,975 (GRCm39) |
I211V |
probably benign |
Het |
Izumo3 |
T |
A |
4: 92,033,284 (GRCm39) |
N104I |
probably damaging |
Het |
Kifc1 |
G |
A |
17: 34,103,685 (GRCm39) |
R195C |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,908,887 (GRCm39) |
H142L |
probably benign |
Het |
Mmp10 |
T |
C |
9: 7,505,682 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
G |
A |
2: 157,083,774 (GRCm39) |
|
probably benign |
Het |
Mylk |
T |
C |
16: 34,681,022 (GRCm39) |
V94A |
probably benign |
Het |
Nol6 |
A |
T |
4: 41,120,760 (GRCm39) |
N396K |
probably benign |
Het |
Nr4a2 |
A |
T |
2: 56,998,336 (GRCm39) |
N543K |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,100,998 (GRCm39) |
S263P |
probably benign |
Het |
Or10ag53 |
G |
T |
2: 87,082,766 (GRCm39) |
G162C |
probably benign |
Het |
Or1e35 |
A |
T |
11: 73,798,240 (GRCm39) |
L26H |
probably damaging |
Het |
Or5p68 |
T |
A |
7: 107,945,313 (GRCm39) |
I292F |
probably damaging |
Het |
Or7d10 |
G |
A |
9: 19,832,344 (GRCm39) |
V280I |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,637,680 (GRCm39) |
R368S |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,105,742 (GRCm39) |
A736T |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,482,957 (GRCm39) |
D1550G |
probably damaging |
Het |
Qrfpr |
C |
A |
3: 36,234,244 (GRCm39) |
G366W |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,607,776 (GRCm39) |
A1471S |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,700,567 (GRCm39) |
Y505N |
probably damaging |
Het |
Reln |
T |
A |
5: 22,191,953 (GRCm39) |
T1496S |
probably null |
Het |
Rrs1 |
T |
C |
1: 9,616,080 (GRCm39) |
L111P |
probably benign |
Het |
Selplg |
C |
T |
5: 113,957,434 (GRCm39) |
V291M |
possibly damaging |
Het |
Serpinb1c |
T |
A |
13: 33,080,934 (GRCm39) |
T50S |
possibly damaging |
Het |
Slc4a5 |
A |
G |
6: 83,257,114 (GRCm39) |
K640E |
probably damaging |
Het |
Szt2 |
A |
T |
4: 118,262,656 (GRCm39) |
H40Q |
possibly damaging |
Het |
Taar4 |
C |
T |
10: 23,837,230 (GRCm39) |
T280I |
probably benign |
Het |
Tdo2 |
A |
G |
3: 81,868,775 (GRCm39) |
|
probably null |
Het |
Tpp1 |
T |
C |
7: 105,395,948 (GRCm39) |
N527S |
probably benign |
Het |
Trim43c |
A |
T |
9: 88,725,131 (GRCm39) |
T218S |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,115,782 (GRCm39) |
|
probably null |
Het |
Vat1l |
T |
C |
8: 115,009,101 (GRCm39) |
|
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,904,524 (GRCm39) |
H1037Q |
possibly damaging |
Het |
Zmiz1 |
T |
C |
14: 25,658,520 (GRCm39) |
|
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 |
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 |
R4769:Trim45
|
UTSW |
3 |
100,839,050 (GRCm39) |
intron |
probably benign |
|
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'- TCTCACAACAGGGAAGTTGCAAGC -3'
(R):5'- CCTGGTGTCATGGAACCTCACAATG -3'
Sequencing Primer
(F):5'- AGTTCTATGTGATCCCAGAGCAG -3'
(R):5'- ATGAAAGAGTCCATCTATATCTCCC -3'
|
Posted On |
2014-01-29 |