Incidental Mutation 'R3744:Trappc10'
ID 271125
Institutional Source Beutler Lab
Gene Symbol Trappc10
Ensembl Gene ENSMUSG00000000374
Gene Name trafficking protein particle complex 10
Synonyms B230307C21Rik, Tmem1, b2b2613Clo, b2b2416Clo, LOC380642
MMRRC Submission 040730-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3744 (G1)
Quality Score 183
Status Validated
Chromosome 10
Chromosomal Location 78022559-78080475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78034924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 941 (S941C)
Ref Sequence ENSEMBL: ENSMUSP00000000384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000000384
AA Change: S941C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: S941C

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
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (33/33)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,330,190 (GRCm39) probably benign Het
Aox4 C T 1: 58,285,029 (GRCm39) H594Y probably damaging Het
Aspn G A 13: 49,720,036 (GRCm39) E351K probably damaging Het
BC004004 A G 17: 29,520,423 (GRCm39) *349W probably null Het
Elmo2 C T 2: 165,157,922 (GRCm39) D39N probably damaging Het
Fam161a T C 11: 22,970,410 (GRCm39) F196S probably damaging Het
Fam186a A G 15: 99,845,416 (GRCm39) V276A unknown Het
Fn3krp T C 11: 121,317,531 (GRCm39) probably null Het
Gnai3 T C 3: 108,016,714 (GRCm39) probably benign Het
Hspg2 C T 4: 137,292,815 (GRCm39) probably benign Het
Igkv5-43 G A 6: 69,752,921 (GRCm39) H54Y probably benign Het
Kif26b A G 1: 178,506,595 (GRCm39) I224V probably benign Het
Lyg1 T C 1: 37,988,923 (GRCm39) Y99C probably benign Het
Myh4 C T 11: 67,146,141 (GRCm39) R1400C probably damaging Het
Nf1 T C 11: 79,439,573 (GRCm39) S2262P probably benign Het
Pop5 T C 5: 115,378,567 (GRCm39) Y117H possibly damaging Het
Prpf8 T A 11: 75,397,547 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rapgef6 T C 11: 54,516,760 (GRCm39) F54S probably benign Het
Sptb T C 12: 76,647,174 (GRCm39) T1954A probably benign Het
Ssbp2 T C 13: 91,828,765 (GRCm39) probably benign Het
Tap1 A T 17: 34,412,586 (GRCm39) D541V probably damaging Het
Tcte1 A G 17: 45,850,597 (GRCm39) D291G probably damaging Het
Tpbg A G 9: 85,727,215 (GRCm39) R395G probably damaging Het
Usp19 G A 9: 108,377,380 (GRCm39) R886Q probably damaging Het
Utp14b G T 1: 78,642,973 (GRCm39) E290D probably benign Het
Vmn1r30 A T 6: 58,412,804 (GRCm39) Y9* probably null Het
Vmn2r97 A G 17: 19,149,890 (GRCm39) H426R probably benign Het
Vwa3a A G 7: 120,351,817 (GRCm39) D27G probably benign Het
Zfp36 A G 7: 28,077,201 (GRCm39) S236P probably benign Het
Zfp616 C A 11: 73,974,813 (GRCm39) H452N probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGATATCCAGGACACAGGG -3'
(R):5'- GGCATGGTGTCCAATTCTGTC -3'

Sequencing Primer
(F):5'- TATCCAGGACACAGGGAGCTACTC -3'
(R):5'- TGTCACCTGTCTATGTGAGAATATG -3'
Posted On 2015-03-18