Incidental Mutation 'R6415:Trap1'
ID 517898
Institutional Source Beutler Lab
Gene Symbol Trap1
Ensembl Gene ENSMUSG00000005981
Gene Name TNF receptor-associated protein 1
Synonyms HSP75, 2410002K23Rik
MMRRC Submission 044557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6415 (G1)
Quality Score 189.009
Status Validated
Chromosome 16
Chromosomal Location 3857835-3895691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3861856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 636 (R636H)
Ref Sequence ENSEMBL: ENSMUSP00000006137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006136] [ENSMUST00000006137] [ENSMUST00000120009] [ENSMUST00000137748] [ENSMUST00000177337] [ENSMUST00000175755]
AlphaFold Q9CQN1
Predicted Effect probably benign
Transcript: ENSMUST00000006136
SMART Domains Protein: ENSMUSP00000006136
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000006137
AA Change: R636H

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: R636H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
DNaseIc 6 282 5.04e-220 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125961
Predicted Effect probably benign
Transcript: ENSMUST00000137748
SMART Domains Protein: ENSMUSP00000119934
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 225 7.51e-146 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176642
Predicted Effect probably benign
Transcript: ENSMUST00000177337
SMART Domains Protein: ENSMUSP00000135442
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
DNaseIc 6 200 6.86e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175755
SMART Domains Protein: ENSMUSP00000135060
Gene: ENSMUSG00000005980

DomainStartEndE-ValueType
SCOP:d2dnja_ 1 52 3e-9 SMART
Blast:DNaseIc 1 61 2e-31 BLAST
PDB:3W3D|B 1 61 5e-27 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik G A 9: 55,881,296 (GRCm39) T482M probably benign Het
Adam9 A G 8: 25,468,498 (GRCm39) Y513H probably damaging Het
Adamts20 C T 15: 94,222,540 (GRCm39) probably null Het
B3gnt5 A G 16: 19,588,759 (GRCm39) D326G probably damaging Het
Cacna1g A G 11: 94,354,243 (GRCm39) I224T probably damaging Het
Ccdc18 A G 5: 108,309,612 (GRCm39) I402M probably benign Het
Cckar A T 5: 53,860,398 (GRCm39) C73S probably damaging Het
Cdk13 C T 13: 17,913,739 (GRCm39) R880H probably damaging Het
Col1a1 A G 11: 94,830,986 (GRCm39) N218D unknown Het
Csnk1g2 T C 10: 80,474,130 (GRCm39) I145T possibly damaging Het
Cul5 T C 9: 53,557,983 (GRCm39) D207G probably benign Het
Cyp2c69 A G 19: 39,831,365 (GRCm39) F483L probably benign Het
Ddx60 A G 8: 62,436,939 (GRCm39) D963G probably benign Het
Dhx8 G T 11: 101,628,513 (GRCm39) A142S unknown Het
Dock7 C T 4: 98,880,685 (GRCm39) R926Q probably damaging Het
Dscaml1 C T 9: 45,594,975 (GRCm39) Q693* probably null Het
Dysf G A 6: 84,117,024 (GRCm39) C1234Y probably damaging Het
Ercc1 G A 7: 19,089,102 (GRCm39) probably null Het
Fam91a1 T C 15: 58,314,766 (GRCm39) L549P probably damaging Het
Fxyd2 T A 9: 45,314,592 (GRCm39) Y5N possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gpr182 T A 10: 127,586,375 (GRCm39) D192V possibly damaging Het
Gps1 T C 11: 120,678,548 (GRCm39) V286A possibly damaging Het
Grk1 A G 8: 13,463,127 (GRCm39) Y383C probably damaging Het
H2bc15 T C 13: 21,938,656 (GRCm39) Y122H probably benign Het
Hic1 G A 11: 75,057,143 (GRCm39) P582L possibly damaging Het
Igkv4-61 C A 6: 69,394,138 (GRCm39) A31S possibly damaging Het
Khdc4 T C 3: 88,607,279 (GRCm39) F328L probably benign Het
Lactb T C 9: 66,877,927 (GRCm39) K301E possibly damaging Het
Lrp3 A T 7: 34,903,593 (GRCm39) V251E probably benign Het
Mapt G A 11: 104,189,824 (GRCm39) G265S probably benign Het
Obscn A T 11: 58,925,956 (GRCm39) D6245E probably damaging Het
Or10al2 G T 17: 37,983,448 (GRCm39) C178F possibly damaging Het
Or1j12 A G 2: 36,342,617 (GRCm39) S7G probably damaging Het
Or4b1c T A 2: 90,126,381 (GRCm39) I275F probably damaging Het
Or4c10b T C 2: 89,711,206 (GRCm39) L12P probably damaging Het
Or6c207 T C 10: 129,104,890 (GRCm39) T101A probably benign Het
Or7e165 T A 9: 19,695,044 (GRCm39) I205N probably damaging Het
Or7g19 T C 9: 18,856,415 (GRCm39) L157P probably damaging Het
Oxsm A T 14: 16,241,904 (GRCm38) H288Q probably benign Het
Pcdh9 C T 14: 93,253,278 (GRCm39) M1128I possibly damaging Het
Pcdha8 T C 18: 37,127,614 (GRCm39) Y699H probably damaging Het
Pgk2 A T 17: 40,518,459 (GRCm39) I323N probably benign Het
Plin4 A G 17: 56,410,264 (GRCm39) V1216A probably damaging Het
Ppargc1a T C 5: 51,620,176 (GRCm39) probably benign Het
Prelp A T 1: 133,840,516 (GRCm39) I322N probably benign Het
Prelp A T 1: 133,842,395 (GRCm39) I250N probably damaging Het
Prss27 T A 17: 24,261,882 (GRCm39) C63* probably null Het
Rab38 G A 7: 88,079,748 (GRCm39) A47T possibly damaging Het
Rprd2 G A 3: 95,681,531 (GRCm39) A436V probably benign Het
Sacs A T 14: 61,442,808 (GRCm39) N1618I probably damaging Het
Scp2 T G 4: 107,962,337 (GRCm39) S63R probably benign Het
Sftpb T G 6: 72,281,633 (GRCm39) W9G probably damaging Het
Slco1a4 A T 6: 141,780,415 (GRCm39) L125* probably null Het
Sptlc1 T C 13: 53,505,728 (GRCm39) probably null Het
Sub1 T A 15: 11,986,560 (GRCm39) M96L probably benign Het
Tanc1 T C 2: 59,667,458 (GRCm39) V1233A probably benign Het
Tmem140 A T 6: 34,849,658 (GRCm39) D58V probably damaging Het
Tmem231 G A 8: 112,653,524 (GRCm39) probably benign Het
Tpt1 T C 14: 76,083,811 (GRCm39) Y91H probably benign Het
Ttc14 A G 3: 33,857,724 (GRCm39) H275R possibly damaging Het
Tut7 T A 13: 59,964,110 (GRCm39) probably null Het
Vps35l T C 7: 118,391,869 (GRCm39) W494R probably damaging Het
Ypel1 A G 16: 16,921,438 (GRCm39) probably null Het
Zbtb44 T A 9: 30,975,510 (GRCm39) I380N possibly damaging Het
Zswim5 T C 4: 116,838,063 (GRCm39) F798L possibly damaging Het
Other mutations in Trap1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5434:Trap1 UTSW 16 3,862,529 (GRCm39) missense probably benign 0.00
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
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'- TCCAAGGGCCTTGTAGAACG -3'
(R):5'- TATAGAGCCAATCTGCCTTCTACC -3'

Sequencing Primer
(F):5'- TTGTAGAACGTCCTGACACG -3'
(R):5'- GGTGGCCTAGTTAACTTCACAATGC -3'
Posted On 2018-05-24