Incidental Mutation 'R5434:Trap1'
| ID |
428230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trap1
|
| Ensembl Gene |
ENSMUSG00000005981 |
| Gene Name |
TNF receptor-associated protein 1 |
| Synonyms |
HSP75, 2410002K23Rik |
| MMRRC Submission |
042999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5434 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3857835-3895691 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3862529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 583
(D583G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006136]
[ENSMUST00000006137]
[ENSMUST00000120009]
[ENSMUST00000175755]
[ENSMUST00000177337]
|
| AlphaFold |
Q9CQN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006136
|
| SMART Domains |
Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
282 |
5.04e-220 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006137
AA Change: D583G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: D583G
| Domain | Start | End | E-Value | Type |
|---|
|
HATPase_c
|
110 |
263 |
3.68e-3 |
SMART |
|
Pfam:HSP90
|
290 |
706 |
2.6e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120009
|
| SMART Domains |
Protein: ENSMUSP00000113119
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
282 |
5.04e-220 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125961
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175755
|
| SMART Domains |
Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2dnja_
|
1 |
52 |
3e-9 |
SMART |
|
Blast:DNaseIc
|
1 |
61 |
2e-31 |
BLAST |
|
PDB:3W3D|B
|
1 |
61 |
5e-27 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177337
|
| SMART Domains |
Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980
| Domain | Start | End | E-Value | Type |
|---|
|
DNaseIc
|
6 |
200 |
6.86e-67 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced body weight; liver and spleen hyperplasia; decreased chronic inflammation and tumor incidents; deregulated mitochondrial respiration; and increased oxidative stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
G |
T |
9: 20,786,821 (GRCm39) |
Q301K |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,344,013 (GRCm39) |
Y323C |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,932,719 (GRCm39) |
H818L |
possibly damaging |
Het |
| Atg13 |
G |
T |
2: 91,515,110 (GRCm39) |
|
probably null |
Het |
| Bltp1 |
A |
C |
3: 36,929,665 (GRCm39) |
D94A |
probably damaging |
Het |
| Bop1 |
T |
C |
15: 76,339,611 (GRCm39) |
M245V |
probably benign |
Het |
| Ces2a |
T |
A |
8: 105,464,041 (GRCm39) |
F224L |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,926 (GRCm39) |
H228R |
probably benign |
Het |
| Col9a2 |
A |
T |
4: 120,898,162 (GRCm39) |
R25* |
probably null |
Het |
| Dcaf12 |
G |
T |
4: 41,302,744 (GRCm39) |
T137N |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,729,693 (GRCm39) |
N765S |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,581,256 (GRCm39) |
Y3162C |
probably damaging |
Het |
| Dpf1 |
G |
T |
7: 29,010,756 (GRCm39) |
C123F |
possibly damaging |
Het |
| Flvcr1 |
C |
A |
1: 190,758,206 (GRCm39) |
A29S |
probably benign |
Het |
| Frmd3 |
A |
T |
4: 74,106,033 (GRCm39) |
I560F |
probably damaging |
Het |
| Galnt15 |
G |
A |
14: 31,771,800 (GRCm39) |
V282I |
possibly damaging |
Het |
| Gm14412 |
A |
T |
2: 177,006,405 (GRCm39) |
C497S |
probably damaging |
Het |
| Gm20830 |
A |
T |
Y: 6,916,464 (GRCm39) |
Y218* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,310,375 (GRCm39) |
T3323N |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,214,495 (GRCm39) |
Q6L |
probably benign |
Het |
| Kansl2-ps |
A |
G |
7: 72,322,813 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnj10 |
T |
A |
1: 172,197,047 (GRCm39) |
V187E |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,124,957 (GRCm39) |
T404A |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,660,880 (GRCm39) |
N76I |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,500,862 (GRCm39) |
C196Y |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Mgp |
T |
A |
6: 136,849,772 (GRCm39) |
N62I |
probably benign |
Het |
| Ms4a6c |
T |
A |
19: 11,448,588 (GRCm39) |
H40Q |
probably benign |
Het |
| Necab3 |
A |
G |
2: 154,389,379 (GRCm39) |
S121P |
probably damaging |
Het |
| Nfkb1 |
T |
A |
3: 135,332,372 (GRCm39) |
K128* |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,067,861 (GRCm39) |
R486W |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,964,991 (GRCm39) |
K1525R |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,222,550 (GRCm39) |
K573R |
probably benign |
Het |
| Pbrm1 |
G |
T |
14: 30,806,968 (GRCm39) |
D1085Y |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rbm15 |
A |
G |
3: 107,237,783 (GRCm39) |
S872P |
possibly damaging |
Het |
| Retsat |
A |
G |
6: 72,578,518 (GRCm39) |
I77V |
probably damaging |
Het |
| Rpl32 |
A |
G |
6: 115,783,996 (GRCm39) |
F77L |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,624,814 (GRCm39) |
V2202D |
probably damaging |
Het |
| Sars2 |
G |
A |
7: 28,449,716 (GRCm39) |
R387Q |
probably null |
Het |
| Serpinb3d |
G |
T |
1: 107,006,263 (GRCm39) |
T275N |
probably benign |
Het |
| Sf3a1 |
C |
A |
11: 4,124,041 (GRCm39) |
P296Q |
probably damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,025,744 (GRCm39) |
|
probably benign |
Het |
| St3gal3 |
A |
G |
4: 117,797,247 (GRCm39) |
L332P |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,952,739 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,018,649 (GRCm39) |
S3383T |
probably damaging |
Het |
| Tektl1 |
A |
T |
10: 78,584,484 (GRCm39) |
L346* |
probably null |
Het |
| Tnfsf14 |
A |
G |
17: 57,499,592 (GRCm39) |
S87P |
probably benign |
Het |
| Ube3d |
A |
T |
9: 86,309,460 (GRCm39) |
I212N |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,362,271 (GRCm39) |
D1572E |
probably damaging |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,387 (GRCm39) |
T193S |
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,767,470 (GRCm39) |
V676L |
probably damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
C |
T |
3: 159,639,976 (GRCm39) |
R536C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,031 (GRCm39) |
D51G |
probably damaging |
Het |
|
| Other mutations in Trap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01155:Trap1
|
APN |
16 |
3,861,842 (GRCm39) |
nonsense |
probably null |
|
|
IGL03087:Trap1
|
APN |
16 |
3,862,565 (GRCm39) |
splice site |
probably null |
|
|
gloria
|
UTSW |
16 |
3,863,903 (GRCm39) |
nonsense |
probably null |
|
|
mundi
|
UTSW |
16 |
3,883,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
E0354:Trap1
|
UTSW |
16 |
3,883,152 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0034:Trap1
|
UTSW |
16 |
3,886,894 (GRCm39) |
splice site |
probably benign |
|
|
R0034:Trap1
|
UTSW |
16 |
3,886,894 (GRCm39) |
splice site |
probably benign |
|
|
R0316:Trap1
|
UTSW |
16 |
3,863,424 (GRCm39) |
missense |
probably benign |
|
|
R0336:Trap1
|
UTSW |
16 |
3,862,490 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0614:Trap1
|
UTSW |
16 |
3,878,615 (GRCm39) |
splice site |
probably benign |
|
|
R2069:Trap1
|
UTSW |
16 |
3,886,200 (GRCm39) |
missense |
probably benign |
|
|
R2089:Trap1
|
UTSW |
16 |
3,863,903 (GRCm39) |
nonsense |
probably null |
|
|
R2091:Trap1
|
UTSW |
16 |
3,863,903 (GRCm39) |
nonsense |
probably null |
|
|
R2091:Trap1
|
UTSW |
16 |
3,863,903 (GRCm39) |
nonsense |
probably null |
|
|
R2148:Trap1
|
UTSW |
16 |
3,878,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2419:Trap1
|
UTSW |
16 |
3,886,194 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3853:Trap1
|
UTSW |
16 |
3,872,686 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4926:Trap1
|
UTSW |
16 |
3,863,352 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5120:Trap1
|
UTSW |
16 |
3,861,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Trap1
|
UTSW |
16 |
3,874,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6194:Trap1
|
UTSW |
16 |
3,872,664 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6284:Trap1
|
UTSW |
16 |
3,878,673 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6415:Trap1
|
UTSW |
16 |
3,861,856 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7132:Trap1
|
UTSW |
16 |
3,873,693 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7167:Trap1
|
UTSW |
16 |
3,870,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Trap1
|
UTSW |
16 |
3,862,490 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9438:Trap1
|
UTSW |
16 |
3,883,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9596:Trap1
|
UTSW |
16 |
3,871,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Trap1
|
UTSW |
16 |
3,858,083 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTGAGACAAAGCTTTGATG -3'
(R):5'- AGTATTTCTGAGAGCCTCTGTCC -3'
Sequencing Primer
(F):5'- TGACATGCTAGTGCCCATG -3'
(R):5'- TGAGAGCCTCTGTCCCTAGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation