Incidental Mutation 'E7848:Trappc8'
ID 59
Institutional Source Beutler Lab
Gene Symbol Trappc8
Ensembl Gene ENSMUSG00000033382
Gene Name trafficking protein particle complex 8
Synonyms 5033403J15Rik, D030074E01Rik, Trs85
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # E7848 of strain Klein-zschocher
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 20950280-21029150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20983975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 680 (H680R)
Ref Sequence ENSEMBL: ENSMUSP00000153183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000224530] [ENSMUST00000225661]
AlphaFold A0A286YCX6
Predicted Effect possibly damaging
Transcript: ENSMUST00000025177
AA Change: H681R

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: H681R

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 157 604 1e-167 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000097658
AA Change: H681R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: H681R

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 152 605 9.3e-135 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223584
Predicted Effect probably benign
Transcript: ENSMUST00000224530
Predicted Effect probably damaging
Transcript: ENSMUST00000225661
AA Change: H680R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.2129 question?
Coding Region Coverage
  • 1x: 86.1%
  • 3x: 63.4%
Validation Efficiency 94% (82/87)
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn2 T A 1: 182,314,159 (GRCm39) D362V possibly damaging Het
Cdsn T C 17: 35,867,004 (GRCm39) V511A probably benign Homo
Cyp2j11 T A 4: 96,207,602 (GRCm39) I238L probably benign Het
Nat8f5 T G 6: 85,794,601 (GRCm39) T120P probably damaging Homo
Sybu A T 15: 44,536,818 (GRCm39) S375T probably benign Homo
Other mutations in Trappc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Trappc8 APN 18 20,970,035 (GRCm39) missense probably benign 0.20
IGL01367:Trappc8 APN 18 20,999,176 (GRCm39) missense probably benign 0.01
IGL01537:Trappc8 APN 18 20,968,061 (GRCm39) missense probably benign
IGL01563:Trappc8 APN 18 20,970,103 (GRCm39) missense probably benign 0.00
IGL01982:Trappc8 APN 18 21,007,769 (GRCm39) splice site probably benign
IGL02709:Trappc8 APN 18 20,970,235 (GRCm39) missense possibly damaging 0.94
IGL03126:Trappc8 APN 18 20,996,652 (GRCm39) missense probably damaging 1.00
IGL03290:Trappc8 APN 18 20,953,992 (GRCm39) missense probably damaging 1.00
IGL03348:Trappc8 APN 18 20,985,838 (GRCm39) missense probably damaging 1.00
hoppa UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
Lagomorpha UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
rabbit UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
R0483:Trappc8 UTSW 18 20,978,658 (GRCm39) missense possibly damaging 0.60
R0492:Trappc8 UTSW 18 20,999,243 (GRCm39) missense probably benign 0.07
R0506:Trappc8 UTSW 18 20,977,245 (GRCm39) missense possibly damaging 0.49
R0610:Trappc8 UTSW 18 20,970,245 (GRCm39) missense probably damaging 1.00
R0892:Trappc8 UTSW 18 20,964,665 (GRCm39) critical splice donor site probably null
R1561:Trappc8 UTSW 18 20,974,680 (GRCm39) nonsense probably null
R1589:Trappc8 UTSW 18 20,996,608 (GRCm39) missense probably damaging 1.00
R1700:Trappc8 UTSW 18 20,966,055 (GRCm39) missense probably damaging 1.00
R1785:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1786:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1989:Trappc8 UTSW 18 20,978,708 (GRCm39) missense probably benign 0.04
R2181:Trappc8 UTSW 18 20,952,279 (GRCm39) critical splice donor site probably null
R2294:Trappc8 UTSW 18 20,999,211 (GRCm39) nonsense probably null
R4551:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R4594:Trappc8 UTSW 18 20,970,005 (GRCm39) missense probably benign
R4631:Trappc8 UTSW 18 21,000,865 (GRCm39) missense probably benign 0.22
R4734:Trappc8 UTSW 18 20,974,629 (GRCm39) nonsense probably null
R4834:Trappc8 UTSW 18 20,958,122 (GRCm39) missense probably damaging 0.99
R5114:Trappc8 UTSW 18 20,977,237 (GRCm39) missense probably benign 0.04
R5262:Trappc8 UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
R5384:Trappc8 UTSW 18 20,966,119 (GRCm39) splice site probably null
R5476:Trappc8 UTSW 18 20,998,165 (GRCm39) missense probably damaging 1.00
R5503:Trappc8 UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
R5577:Trappc8 UTSW 18 20,969,836 (GRCm39) nonsense probably null
R5809:Trappc8 UTSW 18 20,951,139 (GRCm39) missense probably benign 0.08
R5825:Trappc8 UTSW 18 21,006,977 (GRCm39) missense probably damaging 1.00
R5886:Trappc8 UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
R5936:Trappc8 UTSW 18 21,007,745 (GRCm39) missense probably damaging 1.00
R6024:Trappc8 UTSW 18 20,966,066 (GRCm39) missense probably damaging 0.98
R6105:Trappc8 UTSW 18 20,979,504 (GRCm39) critical splice donor site probably null
R6229:Trappc8 UTSW 18 21,003,802 (GRCm39) missense probably benign 0.00
R6376:Trappc8 UTSW 18 20,970,132 (GRCm39) missense probably benign 0.07
R6403:Trappc8 UTSW 18 20,999,128 (GRCm39) missense probably benign
R6459:Trappc8 UTSW 18 20,969,925 (GRCm39) missense probably benign 0.40
R6673:Trappc8 UTSW 18 21,018,314 (GRCm39) missense probably benign 0.01
R7041:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R7276:Trappc8 UTSW 18 20,951,148 (GRCm39) missense probably damaging 0.99
R7341:Trappc8 UTSW 18 20,985,704 (GRCm39) missense probably damaging 1.00
R7684:Trappc8 UTSW 18 20,996,559 (GRCm39) missense probably benign 0.01
R7702:Trappc8 UTSW 18 20,958,119 (GRCm39) missense probably damaging 0.99
R8210:Trappc8 UTSW 18 21,006,938 (GRCm39) critical splice donor site probably null
R8958:Trappc8 UTSW 18 21,003,667 (GRCm39) missense probably benign 0.02
R9037:Trappc8 UTSW 18 20,961,539 (GRCm39) missense probably benign 0.00
R9217:Trappc8 UTSW 18 21,000,822 (GRCm39) missense probably benign 0.01
R9246:Trappc8 UTSW 18 20,993,590 (GRCm39) missense possibly damaging 0.64
R9623:Trappc8 UTSW 18 20,983,975 (GRCm39) missense possibly damaging 0.91
R9766:Trappc8 UTSW 18 20,979,630 (GRCm39) missense possibly damaging 0.68
X0065:Trappc8 UTSW 18 20,993,579 (GRCm39) missense probably benign 0.03
Z1177:Trappc8 UTSW 18 20,964,720 (GRCm39) frame shift probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 2053 of the D030074E01Rik transcript in exon 14 of 16 total exons. Two transcripts of D030074E01Rik are displayed on Ensembl. The mutated nucleotide causes a histidine to arginine substitution at amino acid 681 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The uncharacterized D030074E01Rik gene encodes a predicted 822 amino acid protein.  An alternatively spliced transcript of the gene encodes a 1032 amino acid protein. BLAST analysis suggests that this protein is homologous to the yeast protein TRS85, a subunit of the TRAPP (transport protein particle) complex that plays a role in protein transport from the endoplasmic reticulum (ER) to the Golgi. Although TRS85 does not appear to be essential for generalized protein transport, recent evidence suggests that it is involved in some specialized autophagic processes in yeast, and appears to be necessary for the biogenesis of Cvt (cytoplasm to vacuole targeting) vesicles.
 
The H681R change is predicted to be probably damaging by the PolyPhen program.
Posted On 2009-11-13