Incidental Mutation 'R6850:Trim45'
ID |
535583 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim45
|
Ensembl Gene |
ENSMUSG00000033233 |
Gene Name |
tripartite motif-containing 45 |
Synonyms |
4921530N01Rik |
MMRRC Submission |
044954-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6850 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
100829518-100844236 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 100830541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 105
(L105*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037409]
[ENSMUST00000094048]
[ENSMUST00000106980]
[ENSMUST00000134993]
|
AlphaFold |
Q6PFY8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037409
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000043389 Gene: ENSMUSG00000033233 AA Change: L105*
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 null
Transcript: ENSMUST00000094048
AA Change: L56*
|
SMART Domains |
Protein: ENSMUSP00000091590 Gene: ENSMUSG00000033233 AA Change: L56*
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 null
Transcript: ENSMUST00000106980
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000102593 Gene: ENSMUSG00000033233 AA Change: L105*
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 null
Transcript: ENSMUST00000134993
AA Change: L105*
|
SMART Domains |
Protein: ENSMUSP00000115669 Gene: ENSMUSG00000033233 AA Change: L105*
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (54/55) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
C |
10: 10,270,318 (GRCm39) |
M927V |
probably benign |
Het |
Agr2 |
A |
G |
12: 36,045,558 (GRCm39) |
I15V |
probably benign |
Het |
Alpk1 |
A |
G |
3: 127,523,012 (GRCm39) |
I10T |
possibly damaging |
Het |
Art5 |
A |
G |
7: 101,747,302 (GRCm39) |
V159A |
possibly damaging |
Het |
Asz1 |
G |
A |
6: 18,108,942 (GRCm39) |
R32W |
probably benign |
Het |
Atp8b1 |
A |
C |
18: 64,689,923 (GRCm39) |
M603R |
possibly damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Car9 |
A |
G |
4: 43,507,321 (GRCm39) |
E3G |
probably damaging |
Het |
Cpne3 |
A |
T |
4: 19,535,231 (GRCm39) |
I267N |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,057,535 (GRCm39) |
F57I |
probably benign |
Het |
D430041D05Rik |
T |
C |
2: 104,031,604 (GRCm39) |
K980R |
probably damaging |
Het |
Dnhd1 |
G |
T |
7: 105,369,137 (GRCm39) |
G4303W |
possibly damaging |
Het |
Dnmt3a |
A |
G |
12: 3,947,600 (GRCm39) |
N485D |
probably benign |
Het |
Dusp4 |
A |
T |
8: 35,283,651 (GRCm39) |
K166* |
probably null |
Het |
Ect2 |
T |
C |
3: 27,193,034 (GRCm39) |
D344G |
probably damaging |
Het |
Eif2b1 |
T |
C |
5: 124,717,069 (GRCm39) |
D3G |
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,594,041 (GRCm39) |
Y710H |
probably damaging |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,152 (GRCm39) |
L263P |
probably damaging |
Het |
Iqcn |
A |
T |
8: 71,163,425 (GRCm39) |
N873Y |
probably damaging |
Het |
Itga7 |
A |
T |
10: 128,781,385 (GRCm39) |
I621F |
probably damaging |
Het |
Kcna3 |
A |
T |
3: 106,944,475 (GRCm39) |
D246V |
probably damaging |
Het |
Kctd12 |
C |
T |
14: 103,219,414 (GRCm39) |
G155S |
probably benign |
Het |
Lrtm1 |
T |
C |
14: 28,749,407 (GRCm39) |
V256A |
probably benign |
Het |
Mcf2l |
T |
C |
8: 13,059,476 (GRCm39) |
F629L |
possibly damaging |
Het |
Mphosph9 |
A |
G |
5: 124,399,019 (GRCm39) |
F999L |
probably damaging |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Obscn |
C |
T |
11: 58,958,950 (GRCm39) |
V3643M |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,892,955 (GRCm39) |
A6764T |
possibly damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,650 (GRCm39) |
C167* |
probably null |
Het |
Or8g18 |
T |
C |
9: 39,149,271 (GRCm39) |
I150V |
probably benign |
Het |
Pdhx |
T |
C |
2: 102,871,445 (GRCm39) |
H195R |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,086,182 (GRCm39) |
V511E |
probably damaging |
Het |
Prima1 |
C |
T |
12: 103,163,594 (GRCm39) |
D126N |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Prune2 |
C |
A |
19: 17,099,552 (GRCm39) |
D1685E |
probably benign |
Het |
Ptgs2 |
A |
T |
1: 149,981,291 (GRCm39) |
I525F |
probably damaging |
Het |
Rab11fip2 |
A |
T |
19: 59,925,441 (GRCm39) |
F259I |
possibly damaging |
Het |
Ranbp3l |
C |
A |
15: 9,058,808 (GRCm39) |
D216E |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,330,815 (GRCm39) |
L1240Q |
possibly damaging |
Het |
Sohlh2 |
A |
T |
3: 55,099,707 (GRCm39) |
T160S |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spata31h1 |
A |
C |
10: 82,128,888 (GRCm39) |
M1374R |
possibly damaging |
Het |
Tank |
A |
G |
2: 61,480,346 (GRCm39) |
E294G |
probably benign |
Het |
Tars1 |
T |
A |
15: 11,392,885 (GRCm39) |
Y187F |
probably benign |
Het |
Tas2r144 |
T |
A |
6: 42,192,857 (GRCm39) |
M199K |
possibly damaging |
Het |
Tdrd3 |
T |
C |
14: 87,695,515 (GRCm39) |
|
probably benign |
Het |
Tecta |
T |
A |
9: 42,255,134 (GRCm39) |
D1683V |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
Tmie |
A |
G |
9: 110,695,980 (GRCm39) |
I137T |
possibly damaging |
Het |
Trpv3 |
G |
A |
11: 73,182,519 (GRCm39) |
G568S |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,853,758 (GRCm39) |
T390A |
probably benign |
Het |
Wdr97 |
A |
G |
15: 76,241,996 (GRCm39) |
Y763C |
probably damaging |
Het |
Zfp35 |
G |
A |
18: 24,135,839 (GRCm39) |
R61H |
possibly damaging |
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 |
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 |
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'- TTGCCTTGCTTGCACACAG -3'
(R):5'- CTTACGCCACAATAAACGGG -3'
Sequencing Primer
(F):5'- GTGTGCACCACGTGTCTG -3'
(R):5'- TCTTTACCTATGAGCCTGGCAG -3'
|
Posted On |
2018-09-12 |