Incidental Mutation 'IGL00329:Trappc10'
ID 4698
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc10
Ensembl Gene ENSMUSG00000000374
Gene Name trafficking protein particle complex 10
Synonyms B230307C21Rik, Tmem1, b2b2613Clo, b2b2416Clo, LOC380642
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00329
Quality Score
Status
Chromosome 10
Chromosomal Location 78022559-78080475 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78039711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000384
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374

DomainStartEndE-ValueType
Pfam:TRAPPC10 1016 1245 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219948
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,123,911 (GRCm39) N72S probably benign Het
Aopep T A 13: 63,338,977 (GRCm39) I623N probably damaging Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Arcn1 C A 9: 44,670,333 (GRCm39) E98* probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Col28a1 G T 6: 8,175,425 (GRCm39) T141K probably damaging Het
Dna2 T C 10: 62,802,222 (GRCm39) F811S probably damaging Het
Dusp19 T A 2: 80,461,269 (GRCm39) I186K probably damaging Het
Dync2li1 A G 17: 84,952,154 (GRCm39) D195G possibly damaging Het
Epm2aip1 T C 9: 111,101,855 (GRCm39) V276A possibly damaging Het
Extl3 T C 14: 65,313,070 (GRCm39) E704G probably benign Het
Gle1 T C 2: 29,829,301 (GRCm39) probably benign Het
Gm2178 C A 14: 26,235,767 (GRCm39) probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Herc2 T A 7: 55,774,047 (GRCm39) L1166Q probably damaging Het
Hsd11b2 A G 8: 106,249,759 (GRCm39) E290G probably benign Het
Inpp5d T C 1: 87,595,725 (GRCm39) V157A probably benign Het
Krt72 T A 15: 101,693,434 (GRCm39) Q160L probably damaging Het
Lrrd1 A G 5: 3,900,081 (GRCm39) K129E possibly damaging Het
Mapk13 A G 17: 28,995,379 (GRCm39) Y200C probably damaging Het
Mme G A 3: 63,287,749 (GRCm39) W750* probably null Het
Nat8l C T 5: 34,155,761 (GRCm39) P139L probably damaging Het
Nrtn C A 17: 57,058,569 (GRCm39) R144L probably benign Het
Or52h9 C A 7: 104,202,299 (GRCm39) P58T probably benign Het
Pate12 G A 9: 36,344,198 (GRCm39) probably benign Het
Pdgfa T A 5: 138,974,216 (GRCm39) probably benign Het
Rtp3 A G 9: 110,815,666 (GRCm39) V233A probably benign Het
Syne2 A G 12: 76,078,474 (GRCm39) probably benign Het
Usp24 A G 4: 106,216,288 (GRCm39) T380A probably benign Het
Vmn1r21 A T 6: 57,821,049 (GRCm39) S132T probably benign Het
Other mutations in Trappc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Trappc10 APN 10 78,024,733 (GRCm39) missense possibly damaging 0.75
IGL01413:Trappc10 APN 10 78,033,678 (GRCm39) missense possibly damaging 0.87
IGL02413:Trappc10 APN 10 78,046,610 (GRCm39) missense probably damaging 0.99
IGL03037:Trappc10 APN 10 78,034,869 (GRCm39) unclassified probably benign
IGL03094:Trappc10 APN 10 78,064,754 (GRCm39) splice site probably benign
IGL03164:Trappc10 APN 10 78,056,076 (GRCm39) missense probably damaging 1.00
IGL03351:Trappc10 APN 10 78,024,595 (GRCm39) missense probably damaging 1.00
IGL03055:Trappc10 UTSW 10 78,050,520 (GRCm39) missense probably damaging 1.00
IGL03098:Trappc10 UTSW 10 78,050,520 (GRCm39) missense probably damaging 1.00
R0304:Trappc10 UTSW 10 78,046,594 (GRCm39) splice site probably benign
R0605:Trappc10 UTSW 10 78,037,331 (GRCm39) missense possibly damaging 0.70
R1806:Trappc10 UTSW 10 78,046,610 (GRCm39) missense probably damaging 0.99
R1856:Trappc10 UTSW 10 78,032,285 (GRCm39) missense probably benign 0.00
R2045:Trappc10 UTSW 10 78,045,313 (GRCm39) splice site probably benign
R2088:Trappc10 UTSW 10 78,032,168 (GRCm39) missense probably benign 0.00
R2126:Trappc10 UTSW 10 78,039,758 (GRCm39) missense possibly damaging 0.94
R2202:Trappc10 UTSW 10 78,034,876 (GRCm39) critical splice donor site probably null
R2509:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2510:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2511:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2893:Trappc10 UTSW 10 78,029,235 (GRCm39) missense probably benign 0.00
R3744:Trappc10 UTSW 10 78,034,924 (GRCm39) missense probably benign 0.00
R3778:Trappc10 UTSW 10 78,036,636 (GRCm39) missense possibly damaging 0.89
R3876:Trappc10 UTSW 10 78,056,020 (GRCm39) splice site probably null
R3930:Trappc10 UTSW 10 78,046,237 (GRCm39) missense probably benign 0.03
R4078:Trappc10 UTSW 10 78,046,216 (GRCm39) missense probably damaging 1.00
R4111:Trappc10 UTSW 10 78,032,264 (GRCm39) missense probably benign 0.09
R4418:Trappc10 UTSW 10 78,053,022 (GRCm39) missense probably damaging 1.00
R4549:Trappc10 UTSW 10 78,067,292 (GRCm39) missense probably damaging 1.00
R4695:Trappc10 UTSW 10 78,033,697 (GRCm39) missense probably damaging 0.99
R4799:Trappc10 UTSW 10 78,037,424 (GRCm39) missense possibly damaging 0.71
R5022:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5023:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5026:Trappc10 UTSW 10 78,040,122 (GRCm39) missense possibly damaging 0.82
R5057:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5282:Trappc10 UTSW 10 78,023,694 (GRCm39) missense probably damaging 1.00
R5363:Trappc10 UTSW 10 78,024,674 (GRCm39) missense possibly damaging 0.92
R5813:Trappc10 UTSW 10 78,058,573 (GRCm39) missense probably damaging 1.00
R5831:Trappc10 UTSW 10 78,045,260 (GRCm39) missense probably damaging 1.00
R6209:Trappc10 UTSW 10 78,050,646 (GRCm39) missense possibly damaging 0.50
R6450:Trappc10 UTSW 10 78,045,284 (GRCm39) missense possibly damaging 0.92
R6520:Trappc10 UTSW 10 78,037,287 (GRCm39) missense probably benign 0.00
R6533:Trappc10 UTSW 10 78,024,728 (GRCm39) missense probably damaging 0.96
R6767:Trappc10 UTSW 10 78,029,345 (GRCm39) missense possibly damaging 0.75
R6798:Trappc10 UTSW 10 78,024,665 (GRCm39) missense probably benign 0.00
R7205:Trappc10 UTSW 10 78,046,262 (GRCm39) missense probably damaging 1.00
R7282:Trappc10 UTSW 10 78,043,327 (GRCm39) missense probably damaging 0.98
R7378:Trappc10 UTSW 10 78,029,252 (GRCm39) missense probably damaging 0.96
R7384:Trappc10 UTSW 10 78,045,218 (GRCm39) missense possibly damaging 0.85
R7770:Trappc10 UTSW 10 78,046,679 (GRCm39) missense probably damaging 0.96
R7829:Trappc10 UTSW 10 78,034,909 (GRCm39) missense probably benign
R7839:Trappc10 UTSW 10 78,024,646 (GRCm39) missense possibly damaging 0.84
R8298:Trappc10 UTSW 10 78,038,753 (GRCm39) missense probably damaging 1.00
R8306:Trappc10 UTSW 10 78,036,460 (GRCm39) missense possibly damaging 0.54
R8814:Trappc10 UTSW 10 78,038,753 (GRCm39) missense probably damaging 1.00
R9035:Trappc10 UTSW 10 78,043,723 (GRCm39) unclassified probably benign
R9075:Trappc10 UTSW 10 78,040,130 (GRCm39) missense possibly damaging 0.77
R9112:Trappc10 UTSW 10 78,029,201 (GRCm39) missense probably damaging 0.99
R9182:Trappc10 UTSW 10 78,050,464 (GRCm39) missense probably damaging 1.00
R9444:Trappc10 UTSW 10 78,033,612 (GRCm39) missense probably benign 0.10
R9801:Trappc10 UTSW 10 78,045,263 (GRCm39) missense probably benign 0.00
Z1177:Trappc10 UTSW 10 78,052,987 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20