Incidental Mutation 'R1534:Trappc6a'
ID 166819
Institutional Source Beutler Lab
Gene Symbol Trappc6a
Ensembl Gene ENSMUSG00000002043
Gene Name trafficking protein particle complex 6A
Synonyms TRS33, 1810073E21Rik, 4930519D19Rik
MMRRC Submission 039573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1534 (G1)
Quality Score 138
Status Validated
Chromosome 7
Chromosomal Location 19242595-19250070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19248138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 33 (S33G)
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 benign
Transcript: ENSMUST00000002112
AA Change: S33G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043
AA Change: S33G

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 benign
Transcript: ENSMUST00000108455
AA Change: S33G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043
AA Change: S33G

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 0.1201 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 T C 1: 165,345,881 (GRCm39) I310T probably damaging Het
Adcy5 T C 16: 35,073,629 (GRCm39) V469A possibly damaging Het
Agrn C T 4: 156,261,141 (GRCm39) C652Y probably damaging Het
Ankfn1 C T 11: 89,413,977 (GRCm39) V133M probably damaging Het
Ankrd13c A G 3: 157,706,757 (GRCm39) T448A probably benign Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
B4galt2 T C 4: 117,734,669 (GRCm39) H233R probably damaging Het
Bpifb5 T G 2: 154,071,419 (GRCm39) Y249D possibly damaging Het
Brd1 T C 15: 88,573,866 (GRCm39) I1078V possibly damaging Het
Celsr3 A G 9: 108,726,083 (GRCm39) E3104G probably damaging Het
Cyp2c69 T A 19: 39,839,593 (GRCm39) K343N probably benign Het
Cyp4f18 T A 8: 72,746,799 (GRCm39) D331V probably damaging Het
D130040H23Rik T C 8: 69,755,378 (GRCm39) V261A possibly damaging Het
Dchs1 T C 7: 105,421,247 (GRCm39) D391G probably damaging Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Fat4 T C 3: 38,944,238 (GRCm39) F1044L probably damaging Het
Frrs1 A T 3: 116,672,057 (GRCm39) T52S probably benign Het
Gan G A 8: 117,914,168 (GRCm39) V189I probably benign Het
Hnf1b A G 11: 83,784,409 (GRCm39) probably benign Het
Itgae T C 11: 73,036,431 (GRCm39) I1123T possibly damaging Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Lrrc18 A G 14: 32,730,478 (GRCm39) K6E possibly damaging Het
Map2 G A 1: 66,452,339 (GRCm39) V492I probably benign Het
Mtr A T 13: 12,250,430 (GRCm39) probably benign Het
Ncor1 G T 11: 62,269,330 (GRCm39) A689E possibly damaging Het
Or52n2c G A 7: 104,574,621 (GRCm39) L117F possibly damaging Het
Or5w22 T A 2: 87,363,016 (GRCm39) V213D probably damaging Het
Palm T G 10: 79,652,737 (GRCm39) V42G probably damaging Het
Pcm1 G A 8: 41,740,738 (GRCm39) V995I probably benign Het
Pfkp A G 13: 6,669,574 (GRCm39) V215A probably damaging Het
Prkg2 T C 5: 99,142,420 (GRCm39) Y238C probably damaging Het
Prr14 C T 7: 127,073,154 (GRCm39) A167V probably benign Het
Ptprn A C 1: 75,234,587 (GRCm39) probably null Het
Rexo2 A T 9: 48,380,190 (GRCm39) I214N probably damaging Het
Rrbp1 A G 2: 143,830,233 (GRCm39) S645P probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Satb2 A T 1: 56,987,392 (GRCm39) C64* probably null Het
Sez6 A G 11: 77,853,871 (GRCm39) Y347C probably damaging Het
Sos2 A G 12: 69,663,729 (GRCm39) I585T probably damaging Het
Spg11 G A 2: 121,922,806 (GRCm39) T881M probably damaging Het
Tiam1 A T 16: 89,664,396 (GRCm39) probably null Het
Tlcd5 A G 9: 43,022,923 (GRCm39) W126R probably damaging Het
Top1 T C 2: 160,556,152 (GRCm39) I537T probably damaging Het
Tspan11 G C 6: 127,926,768 (GRCm39) V239L probably benign Het
Ubr4 T C 4: 139,155,462 (GRCm39) V2190A possibly damaging Het
Usp28 A G 9: 48,896,806 (GRCm39) D9G possibly damaging Het
Uty A G Y: 1,245,440 (GRCm39) V35A probably benign Het
Vmn2r56 A G 7: 12,427,954 (GRCm39) S771P probably benign Het
Wars2 C T 3: 99,124,177 (GRCm39) A346V probably damaging Het
Wdr87-ps G T 7: 29,229,854 (GRCm39) noncoding transcript Het
Zfp142 G T 1: 74,611,247 (GRCm39) N849K probably benign Het
Zfp180 A T 7: 23,800,948 (GRCm39) N66I 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
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
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'- TCTCACAGGGACAGCATGG -3'
(R):5'- TAAAGGCCGGTGTCTCCAG -3'
Posted On 2014-04-13