Incidental Mutation 'IGL01413:Trappc10'
ID 80118
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 # IGL01413
Quality Score
Status
Chromosome 10
Chromosomal Location 78022559-78080475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78033678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 963 (V963A)
Ref Sequence ENSEMBL: ENSMUSP00000000384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000000384
AA Change: V963A

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: V963A

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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 A T 18: 74,939,015 (GRCm39) probably benign Het
Adgrl1 T A 8: 84,656,486 (GRCm39) I268N probably damaging Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ass1 A G 2: 31,366,934 (GRCm39) Y11C probably damaging Het
Cd44 T C 2: 102,644,632 (GRCm39) E448G probably damaging Het
Cdca2 A G 14: 67,915,343 (GRCm39) S639P probably damaging Het
Cfap221 T A 1: 119,912,801 (GRCm39) H91L possibly damaging Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Col4a4 C T 1: 82,448,969 (GRCm39) G1207E unknown Het
Cracdl G A 1: 37,651,387 (GRCm39) A1160V possibly damaging Het
Cthrc1 T A 15: 38,943,894 (GRCm39) L58Q possibly damaging Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dlgap1 C A 17: 70,823,069 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,323,790 (GRCm39) L3707F probably damaging Het
Dnai7 A T 6: 145,120,812 (GRCm39) M669K probably damaging Het
Duox1 A G 2: 122,151,191 (GRCm39) N289D probably benign Het
Fbrsl1 T A 5: 110,526,114 (GRCm39) E443D probably damaging Het
Fgfr1 T A 8: 26,052,239 (GRCm39) C288* probably null Het
Gabbr1 A G 17: 37,373,598 (GRCm39) N498S possibly damaging Het
Gja10 T C 4: 32,602,070 (GRCm39) K105E probably damaging Het
Glra4 C T X: 135,663,493 (GRCm39) R352H probably benign Het
Gm19402 G T 10: 77,526,323 (GRCm39) probably benign Het
Hadha T A 5: 30,346,025 (GRCm39) M200L probably benign Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Huwe1 A T X: 150,665,676 (GRCm39) Q1231L possibly damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Il1rl1 A T 1: 40,485,329 (GRCm39) K260N possibly damaging Het
Lhx6 C A 2: 35,993,528 (GRCm39) A57S probably benign Het
Mdh2 T A 5: 135,814,879 (GRCm39) I116N probably damaging Het
Met T C 6: 17,558,895 (GRCm39) probably benign Het
Mgam A G 6: 40,638,211 (GRCm39) D387G probably damaging Het
Myo3a T C 2: 22,302,411 (GRCm39) S287P probably benign Het
Nol8 T G 13: 49,813,428 (GRCm39) N140K possibly damaging Het
Nrap C A 19: 56,377,823 (GRCm39) A56S probably damaging Het
Nuggc A G 14: 65,876,030 (GRCm39) T548A probably benign Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Or2i1 A T 17: 37,508,554 (GRCm39) F102I possibly damaging Het
Pcdh11x A G X: 119,309,282 (GRCm39) T242A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Pdzph1 T C 17: 59,186,147 (GRCm39) I1215V possibly damaging Het
Plekha8 C T 6: 54,599,261 (GRCm39) T265I probably benign Het
Pou4f2 T A 8: 79,161,734 (GRCm39) I290F probably damaging Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rab28 A T 5: 41,855,790 (GRCm39) D68E probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Samd4 A G 14: 47,254,249 (GRCm39) T137A probably benign Het
Serpinb1b T G 13: 33,277,842 (GRCm39) D358E probably damaging Het
Serpinb9c G A 13: 33,335,787 (GRCm39) L222F probably damaging Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Spef2 T A 15: 9,676,376 (GRCm39) I732L probably benign Het
Srrm2 T C 17: 24,034,999 (GRCm39) probably benign Het
Ssxb13 A G X: 8,615,692 (GRCm39) E75G probably benign Het
Stmnd1 A T 13: 46,453,157 (GRCm39) I278L probably benign Het
Strap C A 6: 137,722,502 (GRCm39) probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tcf4 A C 18: 69,788,090 (GRCm39) E160D probably damaging Het
Themis3 A G 17: 66,863,092 (GRCm39) Y289H probably benign Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trav19 G T 14: 54,083,072 (GRCm39) C49F probably damaging Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Usp9x A G X: 13,017,579 (GRCm39) S1696G probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Vmn1r185 A T 7: 26,311,046 (GRCm39) V153E probably damaging Het
Vmn2r124 A G 17: 18,282,827 (GRCm39) T174A probably benign Het
Wdr59 T A 8: 112,227,706 (GRCm39) S124C probably benign Het
Xirp2 A T 2: 67,340,270 (GRCm39) D837V probably damaging Het
Zfp185 A G X: 72,061,997 (GRCm39) D403G possibly damaging Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null 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
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 2013-11-05