Incidental Mutation 'IGL03164:Trappc10'
ID 411554
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 # IGL03164
Quality Score
Status
Chromosome 10
Chromosomal Location 78022559-78080475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78056076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 209 (R209G)
Ref Sequence ENSEMBL: ENSMUSP00000000384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384] [ENSMUST00000217980]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000384
AA Change: R209G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: R209G

DomainStartEndE-ValueType
Pfam:TRAPPC10 1016 1245 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217980
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Krt76 T C 15: 101,795,886 (GRCm39) D428G possibly damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Peli3 A G 19: 4,986,144 (GRCm39) probably null Het
Pex7 T A 10: 19,770,461 (GRCm39) probably benign Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rhod T C 19: 4,482,829 (GRCm39) K63E possibly damaging Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging Het
Other mutations in Trappc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Trappc10 APN 10 78,039,711 (GRCm39) splice site probably benign
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
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 2016-08-02