Incidental Mutation 'R8814:Trappc10'
ID 672622
Institutional Source Beutler Lab
Gene Symbol Trappc10
Ensembl Gene ENSMUSG00000000374
Gene Name trafficking protein particle complex 10
Synonyms Tmem1, LOC380642, B230307C21Rik
MMRRC Submission 068649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8814 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 78186725-78244641 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78202919 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 780 (Y780H)
Ref Sequence ENSEMBL: ENSMUSP00000000384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000384
AA Change: Y780H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: Y780H

DomainStartEndE-ValueType
Pfam:TRAPPC10 1016 1245 1.1e-45 PFAM
Predicted Effect
Meta Mutation Damage Score 0.1051 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd7 A G 8: 88,345,154 (GRCm38) V361A probably benign Het
C6 A T 15: 4,792,784 (GRCm38) Q595L probably benign Het
Cacna2d3 T A 14: 29,097,815 (GRCm38) Y532F probably damaging Het
Cep85l A T 10: 53,348,969 (GRCm38) Y175N probably benign Het
Clca3a2 G T 3: 144,797,764 (GRCm38) N808K probably benign Het
Clec2m T C 6: 129,325,604 (GRCm38) probably benign Het
Cpsf4 T G 5: 145,178,868 (GRCm38) S201R probably benign Het
Crispld2 A G 8: 120,015,345 (GRCm38) H144R possibly damaging Het
Cyp1b1 T C 17: 79,713,359 (GRCm38) E318G probably benign Het
Fer1l4 A G 2: 156,052,243 (GRCm38) F47L probably benign Het
Flnb A G 14: 7,927,409 (GRCm38) D1873G probably damaging Het
Gm47995 A G 1: 151,198,988 (GRCm38) M181V probably benign Het
Hace1 A G 10: 45,652,701 (GRCm38) Y346C probably damaging Het
Hemgn G T 4: 46,400,717 (GRCm38) Q48K possibly damaging Het
Hhip T C 8: 80,051,472 (GRCm38) D143G probably damaging Het
Ift74 C T 4: 94,662,636 (GRCm38) Q342* probably null Het
Kng2 A T 16: 23,004,011 (GRCm38) I197N probably benign Het
Lcat G A 8: 105,941,970 (GRCm38) P167S probably damaging Het
Lmntd2 G A 7: 141,210,084 (GRCm38) R672W probably damaging Het
Mroh2b G T 15: 4,941,625 (GRCm38) L1037F possibly damaging Het
Msh4 A G 3: 153,872,320 (GRCm38) S640P probably damaging Het
Mtcl2 C T 2: 157,030,531 (GRCm38) W965* probably null Het
Mterf1b T C 5: 4,197,456 (GRCm38) S366P probably damaging Het
Nrxn1 A T 17: 90,630,101 (GRCm38) C643S probably damaging Het
Olfr709-ps1 T A 7: 106,926,818 (GRCm38) I214F probably damaging Het
Or1s2 T A 19: 13,781,533 (GRCm38) I305N possibly damaging Het
Or52s6 A G 7: 103,442,913 (GRCm38) V70A probably benign Het
Or5d37 T A 2: 88,092,971 (GRCm38) I322F probably benign Het
Or5p61 T A 7: 108,159,065 (GRCm38) K269N probably benign Het
Pask C A 1: 93,320,585 (GRCm38) R998L probably benign Het
Pcdh8 A G 14: 79,768,897 (GRCm38) L742P probably benign Het
Pheta1 G T 5: 121,853,045 (GRCm38) V157L probably benign Het
Psma3 A G 12: 70,978,806 (GRCm38) E32G probably benign Het
Samd11 T C 4: 156,247,884 (GRCm38) E500G probably benign Het
Scarb1 A T 5: 125,294,092 (GRCm38) D305E probably benign Het
Serpinb6b A G 13: 32,978,304 (GRCm38) H362R possibly damaging Het
Siglec1 G A 2: 131,072,744 (GRCm38) T1484M probably damaging Het
Slfn8 A G 11: 83,016,679 (GRCm38) V346A possibly damaging Het
Slitrk6 G C 14: 110,749,938 (GRCm38) A779G probably benign Het
Sub1 A C 15: 11,984,231 (GRCm38) V124G probably damaging Het
Tbc1d32 A G 10: 56,196,592 (GRCm38) I277T possibly damaging Het
Tln2 C A 9: 67,221,411 (GRCm38) E1465D possibly damaging Het
Trim28 T A 7: 13,028,527 (GRCm38) N359K probably damaging Het
Tspan15 G A 10: 62,188,056 (GRCm38) T281M probably benign Het
Uaca A G 9: 60,866,398 (GRCm38) N396D possibly damaging Het
Vmn1r84 A G 7: 12,362,458 (GRCm38) S103P probably damaging Het
Vmn2r22 C G 6: 123,637,830 (GRCm38) R267T probably damaging Het
Vmn2r7 A G 3: 64,716,563 (GRCm38) I112T probably benign Het
Vmn2r70 T A 7: 85,565,961 (GRCm38) I122F probably benign Het
Vmn2r79 C G 7: 87,002,506 (GRCm38) T371S probably benign Het
Vps8 T C 16: 21,576,650 (GRCm38) L1230P probably damaging Het
Zfp26 A T 9: 20,438,434 (GRCm38) V278D probably benign Het
Other mutations in Trappc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Trappc10 APN 10 78,203,877 (GRCm38) splice site probably benign
IGL01375:Trappc10 APN 10 78,188,899 (GRCm38) missense possibly damaging 0.75
IGL01413:Trappc10 APN 10 78,197,844 (GRCm38) missense possibly damaging 0.87
IGL02413:Trappc10 APN 10 78,210,776 (GRCm38) missense probably damaging 0.99
IGL03037:Trappc10 APN 10 78,199,035 (GRCm38) unclassified probably benign
IGL03094:Trappc10 APN 10 78,228,920 (GRCm38) splice site probably benign
IGL03164:Trappc10 APN 10 78,220,242 (GRCm38) missense probably damaging 1.00
IGL03351:Trappc10 APN 10 78,188,761 (GRCm38) missense probably damaging 1.00
IGL03055:Trappc10 UTSW 10 78,214,686 (GRCm38) missense probably damaging 1.00
IGL03098:Trappc10 UTSW 10 78,214,686 (GRCm38) missense probably damaging 1.00
R0304:Trappc10 UTSW 10 78,210,760 (GRCm38) splice site probably benign
R0605:Trappc10 UTSW 10 78,201,497 (GRCm38) missense possibly damaging 0.70
R1806:Trappc10 UTSW 10 78,210,776 (GRCm38) missense probably damaging 0.99
R1856:Trappc10 UTSW 10 78,196,451 (GRCm38) missense probably benign 0.00
R2045:Trappc10 UTSW 10 78,209,479 (GRCm38) splice site probably benign
R2088:Trappc10 UTSW 10 78,196,334 (GRCm38) missense probably benign 0.00
R2126:Trappc10 UTSW 10 78,203,924 (GRCm38) missense possibly damaging 0.94
R2202:Trappc10 UTSW 10 78,199,042 (GRCm38) critical splice donor site probably null
R2509:Trappc10 UTSW 10 78,211,523 (GRCm38) missense possibly damaging 0.51
R2510:Trappc10 UTSW 10 78,211,523 (GRCm38) missense possibly damaging 0.51
R2511:Trappc10 UTSW 10 78,211,523 (GRCm38) missense possibly damaging 0.51
R2893:Trappc10 UTSW 10 78,193,401 (GRCm38) missense probably benign 0.00
R3744:Trappc10 UTSW 10 78,199,090 (GRCm38) missense probably benign 0.00
R3778:Trappc10 UTSW 10 78,200,802 (GRCm38) missense possibly damaging 0.89
R3876:Trappc10 UTSW 10 78,220,186 (GRCm38) splice site probably null
R3930:Trappc10 UTSW 10 78,210,403 (GRCm38) missense probably benign 0.03
R4078:Trappc10 UTSW 10 78,210,382 (GRCm38) missense probably damaging 1.00
R4111:Trappc10 UTSW 10 78,196,430 (GRCm38) missense probably benign 0.09
R4418:Trappc10 UTSW 10 78,217,188 (GRCm38) missense probably damaging 1.00
R4549:Trappc10 UTSW 10 78,231,458 (GRCm38) missense probably damaging 1.00
R4695:Trappc10 UTSW 10 78,197,863 (GRCm38) missense probably damaging 0.99
R4799:Trappc10 UTSW 10 78,201,590 (GRCm38) missense possibly damaging 0.71
R5022:Trappc10 UTSW 10 78,217,160 (GRCm38) missense possibly damaging 0.72
R5023:Trappc10 UTSW 10 78,217,160 (GRCm38) missense possibly damaging 0.72
R5026:Trappc10 UTSW 10 78,204,288 (GRCm38) missense possibly damaging 0.82
R5057:Trappc10 UTSW 10 78,217,160 (GRCm38) missense possibly damaging 0.72
R5282:Trappc10 UTSW 10 78,187,860 (GRCm38) missense probably damaging 1.00
R5363:Trappc10 UTSW 10 78,188,840 (GRCm38) missense possibly damaging 0.92
R5813:Trappc10 UTSW 10 78,222,739 (GRCm38) missense probably damaging 1.00
R5831:Trappc10 UTSW 10 78,209,426 (GRCm38) missense probably damaging 1.00
R6209:Trappc10 UTSW 10 78,214,812 (GRCm38) missense possibly damaging 0.50
R6450:Trappc10 UTSW 10 78,209,450 (GRCm38) missense possibly damaging 0.92
R6520:Trappc10 UTSW 10 78,201,453 (GRCm38) missense probably benign 0.00
R6533:Trappc10 UTSW 10 78,188,894 (GRCm38) missense probably damaging 0.96
R6767:Trappc10 UTSW 10 78,193,511 (GRCm38) missense possibly damaging 0.75
R6798:Trappc10 UTSW 10 78,188,831 (GRCm38) missense probably benign 0.00
R7205:Trappc10 UTSW 10 78,210,428 (GRCm38) missense probably damaging 1.00
R7282:Trappc10 UTSW 10 78,207,493 (GRCm38) missense probably damaging 0.98
R7378:Trappc10 UTSW 10 78,193,418 (GRCm38) missense probably damaging 0.96
R7384:Trappc10 UTSW 10 78,209,384 (GRCm38) missense possibly damaging 0.85
R7770:Trappc10 UTSW 10 78,210,845 (GRCm38) missense probably damaging 0.96
R7829:Trappc10 UTSW 10 78,199,075 (GRCm38) missense probably benign
R7839:Trappc10 UTSW 10 78,188,812 (GRCm38) missense possibly damaging 0.84
R8298:Trappc10 UTSW 10 78,202,919 (GRCm38) missense probably damaging 1.00
R8306:Trappc10 UTSW 10 78,200,626 (GRCm38) missense possibly damaging 0.54
R9035:Trappc10 UTSW 10 78,207,889 (GRCm38) unclassified probably benign
R9075:Trappc10 UTSW 10 78,204,296 (GRCm38) missense possibly damaging 0.77
R9112:Trappc10 UTSW 10 78,193,367 (GRCm38) missense probably damaging 0.99
R9182:Trappc10 UTSW 10 78,214,630 (GRCm38) missense probably damaging 1.00
R9444:Trappc10 UTSW 10 78,197,778 (GRCm38) missense probably benign 0.10
R9801:Trappc10 UTSW 10 78,209,429 (GRCm38) missense probably benign 0.00
Z1177:Trappc10 UTSW 10 78,217,153 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGCTAGCAATCACAGGAC -3'
(R):5'- AGGACAGCCTGCCTTTATCTTC -3'

Sequencing Primer
(F):5'- ACAGATCTGCAGCCAGTGG -3'
(R):5'- CAGCACTTGTAACATATGAAGTGTC -3'
Posted On 2021-04-30