Incidental Mutation 'R6284:Trap1'
ID 508134
Institutional Source Beutler Lab
Gene Symbol Trap1
Ensembl Gene ENSMUSG00000005981
Gene Name TNF receptor-associated protein 1
Synonyms HSP75, 2410002K23Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 3857835-3895691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3878673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 220 (Y220H)
Ref Sequence ENSEMBL: ENSMUSP00000006137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006137]
AlphaFold Q9CQN1
Predicted Effect probably benign
Transcript: ENSMUST00000006137
AA Change: Y220H

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000006137
Gene: ENSMUSG00000005981
AA Change: Y220H

DomainStartEndE-ValueType
HATPase_c 110 263 3.68e-3 SMART
Pfam:HSP90 290 706 2.6e-98 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138594
Predicted Effect probably benign
Transcript: ENSMUST00000150354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175521
Meta Mutation Damage Score 0.1631 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably 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
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'- GTACAACAGCATCTTAAGGAACTCC -3'
(R):5'- ATATGCTAGAGGACCCTGCC -3'

Sequencing Primer
(F):5'- ATGGTGCACATCTGAGATCC -3'
(R):5'- CCAGCACAACACAGGTGGG -3'
Posted On 2018-03-15