Incidental Mutation 'R1744:Trappc6a'
ID 200586
Institutional Source Beutler Lab
Gene Symbol Trappc6a
Ensembl Gene ENSMUSG00000002043
Gene Name trafficking protein particle complex 6A
Synonyms TRS33, 1810073E21Rik, 4930519D19Rik
MMRRC Submission 039776-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1744 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19242595-19250070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19248154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 38 (E38G)
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 damaging
Transcript: ENSMUST00000002112
AA Change: E38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043
AA Change: E38G

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 damaging
Transcript: ENSMUST00000108455
AA Change: E38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043
AA Change: E38G

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129808
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
Meta Mutation Damage Score 0.5195 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 98% (59/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A G 5: 81,942,267 (GRCm39) E1247G probably damaging Het
Bcl2l15 T A 3: 103,745,856 (GRCm39) L165Q probably damaging Het
Cd163 C A 6: 124,283,987 (GRCm39) A53E possibly damaging Het
Cemip2 C A 19: 21,809,501 (GRCm39) Y960* probably null Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clca3a1 G T 3: 144,452,596 (GRCm39) A629D probably damaging Het
Csde1 T A 3: 102,957,631 (GRCm39) S463R probably benign Het
Cth C G 3: 157,611,905 (GRCm39) R304P probably damaging Het
D7Ertd443e A G 7: 133,951,142 (GRCm39) V177A probably benign Het
Ddx56 G A 11: 6,216,396 (GRCm39) R189W probably damaging Het
Dennd2a A T 6: 39,457,185 (GRCm39) F752L probably benign Het
Gabrp A T 11: 33,522,462 (GRCm39) V28E probably benign Het
Gpam T C 19: 55,063,023 (GRCm39) E763G probably damaging Het
Hars1 G A 18: 36,903,885 (GRCm39) R266C probably benign Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2d T C 15: 98,762,928 (GRCm39) K281E probably damaging Het
Lbx1 T C 19: 45,222,652 (GRCm39) K124E probably damaging Het
Lcp2 T C 11: 34,019,911 (GRCm39) probably null Het
Mab21l2 T C 3: 86,454,211 (GRCm39) E263G possibly damaging Het
Macf1 A T 4: 123,369,646 (GRCm39) I140K probably damaging Het
Mcemp1 G A 8: 3,716,054 (GRCm39) A20T probably damaging Het
Met T C 6: 17,540,645 (GRCm39) V137A possibly damaging Het
Mgat5 T C 1: 127,407,206 (GRCm39) F624S probably damaging Het
Nutm2 T C 13: 50,623,390 (GRCm39) I29T probably benign Het
Ociad1 T C 5: 73,458,062 (GRCm39) probably null Het
Ogfod2 G A 5: 124,252,219 (GRCm39) probably null Het
Or6c69 A C 10: 129,747,262 (GRCm39) V295G probably damaging Het
Or8g4 A C 9: 39,661,711 (GRCm39) T10P probably benign Het
Otoa G A 7: 120,726,999 (GRCm39) probably benign Het
Otud3 A C 4: 138,623,059 (GRCm39) L394R probably damaging Het
Pde5a T C 3: 122,541,546 (GRCm39) V12A probably damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prr27 A G 5: 87,990,906 (GRCm39) I173V possibly damaging Het
Psg29 T C 7: 16,944,278 (GRCm39) C263R probably damaging Het
Ptprm T C 17: 66,996,361 (GRCm39) Y1242C probably damaging Het
Retsat C T 6: 72,583,558 (GRCm39) R84* probably null Het
Rif1 G A 2: 52,002,404 (GRCm39) V1953I possibly damaging Het
Ros1 A T 10: 51,999,475 (GRCm39) N1137K probably damaging Het
Scn1a T C 2: 66,152,620 (GRCm39) H787R probably benign Het
Sec16a T C 2: 26,329,198 (GRCm39) E939G probably damaging Het
Sh2d4a G A 8: 68,783,807 (GRCm39) G247D possibly damaging Het
Siglec1 A G 2: 130,923,219 (GRCm39) S509P probably damaging Het
Slc25a30 A G 14: 76,000,770 (GRCm39) I278T probably damaging Het
Slc6a20a C T 9: 123,492,058 (GRCm39) V104I probably benign Het
Sp110 G C 1: 85,522,093 (GRCm39) T70S probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stxbp1 A G 2: 32,696,731 (GRCm39) probably null Het
Tmem132b T C 5: 125,855,908 (GRCm39) probably null Het
Tnfsf13b G A 8: 10,081,661 (GRCm39) probably null Het
Trps1 T C 15: 50,524,609 (GRCm39) D857G probably damaging Het
Tspear T A 10: 77,700,718 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,902,910 (GRCm39) N289K possibly damaging Het
Zcchc8 G A 5: 123,838,436 (GRCm39) Q701* probably null Het
Zfp618 A T 4: 63,004,871 (GRCm39) 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
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
R7813:Trappc6a UTSW 7 19,248,124 (GRCm39) critical splice acceptor site probably null
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'- AGCTGGCCTTAGTTGTCGATCCAC -3'
(R):5'- GCACAGGAACTTGAGGGCATCTAAC -3'

Sequencing Primer
(F):5'- TGAGGGACTCAGCCTTCAAC -3'
(R):5'- TAAAGGCCGGTGTCTCCAG -3'
Posted On 2014-05-23