Incidental Mutation 'R7813:Trappc6a'
ID 601295
Institutional Source Beutler Lab
Gene Symbol Trappc6a
Ensembl Gene ENSMUSG00000002043
Gene Name trafficking protein particle complex 6A
Synonyms TRS33, 1810073E21Rik, 4930519D19Rik
MMRRC Submission 045868-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7813 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19242595-19250070 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 19248124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002112] [ENSMUST00000078908] [ENSMUST00000108455] [ENSMUST00000135972] [ENSMUST00000136873] [ENSMUST00000147114] [ENSMUST00000207576] [ENSMUST00000214205]
AlphaFold Q78XR0
Predicted Effect probably null
Transcript: ENSMUST00000002112
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 6 159 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078908
SMART Domains Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621

DomainStartEndE-ValueType
low complexity region 71 103 N/A INTRINSIC
low complexity region 129 158 N/A INTRINSIC
Pfam:KAP_NTPase 186 642 5.7e-29 PFAM
low complexity region 771 780 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108455
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135972
SMART Domains Protein: ENSMUSP00000120406
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 1 42 7e-11 PFAM
Pfam:TRAPP 38 81 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136873
Predicted Effect probably benign
Transcript: ENSMUST00000147114
Predicted Effect probably benign
Transcript: ENSMUST00000207576
Predicted Effect probably benign
Transcript: ENSMUST00000214205
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous mice exhibit pigmentation abnormalities including mosaic loss of coat pigment, patchy loss of pigmentation in the retinal pigmented epithelial layer, and abnormal melanosomes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G A 10: 29,100,896 (GRCm39) R423K probably benign Het
Acot7 T C 4: 152,307,575 (GRCm39) S170P probably damaging Het
Arhgap40 A G 2: 158,380,620 (GRCm39) Q341R probably benign Het
Arhgef28 T C 13: 98,082,189 (GRCm39) E1206G possibly damaging Het
Arpp21 T A 9: 112,008,133 (GRCm39) K122N probably damaging Het
Arsi T C 18: 61,049,726 (GRCm39) L203P possibly damaging Het
C1rb A T 6: 124,557,488 (GRCm39) I542F probably benign Het
Cadm3 C A 1: 173,171,956 (GRCm39) V206L probably benign Het
Card11 T C 5: 140,885,419 (GRCm39) D380G probably damaging Het
Ccdc42 A T 11: 68,488,534 (GRCm39) Q164L probably benign Het
Ccnd1 A G 7: 144,491,622 (GRCm39) probably null Het
Cep120 T C 18: 53,871,578 (GRCm39) D98G probably damaging Het
Chrd A G 16: 20,554,155 (GRCm39) T336A probably benign Het
Clca3a2 C A 3: 144,790,726 (GRCm39) A449S probably benign Het
Dnah7a A G 1: 53,657,245 (GRCm39) F844L probably benign Het
Fbxo11 T A 17: 88,308,245 (GRCm39) I480F Het
Fcrl5 A G 3: 87,350,930 (GRCm39) T147A probably benign Het
Gm15130 T A 2: 110,969,320 (GRCm39) I133F Het
Gpr155 C T 2: 73,212,329 (GRCm39) W98* probably null Het
Hspa4 A G 11: 53,162,863 (GRCm39) S408P probably damaging Het
Il12rb2 G A 6: 67,333,635 (GRCm39) R215C possibly damaging Het
Itga5 T A 15: 103,265,741 (GRCm39) probably null Het
Kcnip3 T A 2: 127,323,703 (GRCm39) probably null Het
Krt12 A G 11: 99,309,309 (GRCm39) probably null Het
Marchf3 A T 18: 56,916,163 (GRCm39) S177R probably benign Het
Minpp1 T G 19: 32,468,803 (GRCm39) F229V probably damaging Het
Muc2 G A 7: 141,282,543 (GRCm39) probably null Het
Myh10 A G 11: 68,676,735 (GRCm39) T906A probably benign Het
Myh13 A G 11: 67,218,056 (GRCm39) D43G probably benign Het
Nacad C T 11: 6,549,071 (GRCm39) D1327N probably benign Het
Nbeal1 A T 1: 60,331,048 (GRCm39) Y2219F probably damaging Het
Nckap5 A G 1: 125,953,163 (GRCm39) S1130P probably benign Het
Pfkfb3 T C 2: 11,486,719 (GRCm39) N415S probably benign Het
Plxdc2 A G 2: 16,665,678 (GRCm39) I293V possibly damaging Het
Prpf38a A T 4: 108,436,277 (GRCm39) I12N probably damaging Het
Ptprt C T 2: 161,372,413 (GRCm39) V1420M probably damaging Het
Qars1 A G 9: 108,386,670 (GRCm39) D161G probably damaging Het
Scaf8 T A 17: 3,247,549 (GRCm39) D957E probably damaging Het
Scn7a T C 2: 66,506,689 (GRCm39) Y1400C probably damaging Het
Sis T C 3: 72,832,801 (GRCm39) I999V probably benign Het
Sorcs2 A T 5: 36,181,958 (GRCm39) L1054H probably damaging Het
Sptbn1 C T 11: 30,088,455 (GRCm39) A906T probably damaging Het
Srd5a2 A G 17: 74,331,541 (GRCm39) F152S probably benign Het
Stkld1 T A 2: 26,835,888 (GRCm39) L241* probably null Het
Strip2 A T 6: 29,923,912 (GRCm39) probably null Het
Tcaf1 A C 6: 42,650,363 (GRCm39) Y905* probably null Het
Tet2 T C 3: 133,179,404 (GRCm39) I1254V probably benign Het
Tiam2 A T 17: 3,487,522 (GRCm39) N681I probably damaging Het
Trav12-2 A T 14: 53,854,223 (GRCm39) K66* probably null Het
Ttn T A 2: 76,597,841 (GRCm39) I19691F probably damaging Het
Tubgcp5 A T 7: 55,450,444 (GRCm39) Q185L possibly damaging Het
Vmn1r44 A T 6: 89,869,192 (GRCm39) probably benign Het
Vps13a T C 19: 16,628,820 (GRCm39) D2717G possibly damaging Het
Vps13d A T 4: 144,904,633 (GRCm39) Y133* probably null Het
Zer1 T C 2: 30,000,385 (GRCm39) D265G probably damaging Het
Zfp710 A G 7: 79,730,859 (GRCm39) D12G possibly damaging Het
Zfp819 T C 7: 43,266,191 (GRCm39) S225P probably benign Het
Other mutations in Trappc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Trappc6a APN 7 19,249,144 (GRCm39) missense possibly damaging 0.82
hawker UTSW 7 19,249,219 (GRCm39) missense probably benign 0.06
R1534:Trappc6a UTSW 7 19,248,138 (GRCm39) missense probably benign
R1744:Trappc6a UTSW 7 19,248,154 (GRCm39) missense probably damaging 1.00
R1939:Trappc6a UTSW 7 19,248,426 (GRCm39) missense probably damaging 1.00
R6130:Trappc6a UTSW 7 19,249,219 (GRCm39) missense probably benign 0.06
R8948:Trappc6a UTSW 7 19,249,923 (GRCm39) unclassified probably benign
R8950:Trappc6a UTSW 7 19,249,923 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CATTCCTAGGTGAACTTGGCAG -3'
(R):5'- GTGAAATCTTCCCCACCCTTGG -3'

Sequencing Primer
(F):5'- TGAACTTGGCAGCTGGAC -3'
(R):5'- CCTTGGTCTTGTCAGCAGGAAC -3'
Posted On 2019-11-26