Incidental Mutation 'IGL02193:Trappc6a'
ID 283966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc6a
Ensembl Gene ENSMUSG00000002043
Gene Name trafficking protein particle complex 6A
Synonyms TRS33, 1810073E21Rik, 4930519D19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02193
Quality Score
Status
Chromosome 7
Chromosomal Location 19242595-19250070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19249144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 124 (C124S)
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 possibly damaging
Transcript: ENSMUST00000002112
AA Change: C124S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043
AA Change: C124S

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 possibly damaging
Transcript: ENSMUST00000108455
AA Change: C124S

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043
AA Change: C124S

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129808
Predicted Effect probably benign
Transcript: ENSMUST00000135972
AA Change: C46S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120406
Gene: ENSMUSG00000002043
AA Change: C46S

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
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,815 (GRCm39) L812P probably damaging Het
Ankmy1 A T 1: 92,808,767 (GRCm39) F714I probably benign Het
Armh3 G T 19: 45,961,323 (GRCm39) T118K probably benign Het
Celf5 A G 10: 81,306,507 (GRCm39) I52T probably damaging Het
Clstn1 T C 4: 149,729,809 (GRCm39) V771A probably benign Het
Enpep G T 3: 129,075,336 (GRCm39) L661I possibly damaging Het
Faxc A G 4: 21,993,486 (GRCm39) N377D possibly damaging Het
Gabrb3 A G 7: 57,442,264 (GRCm39) E190G probably damaging Het
Gm4787 C T 12: 81,425,302 (GRCm39) M285I probably benign Het
Gm5900 A C 7: 104,599,231 (GRCm39) noncoding transcript Het
Gm6133 A G 18: 78,393,308 (GRCm39) N101D probably benign Het
Gtse1 A G 15: 85,746,531 (GRCm39) K116E probably benign Het
H2-D1 T G 17: 35,484,785 (GRCm39) H215Q possibly damaging Het
Hdc A T 2: 126,443,700 (GRCm39) probably benign Het
Hnrnph3 T C 10: 62,853,056 (GRCm39) H195R probably damaging Het
Ipo8 T C 6: 148,678,782 (GRCm39) T939A probably damaging Het
Irag1 A T 7: 110,498,162 (GRCm39) L411Q probably damaging Het
Krt79 G T 15: 101,848,340 (GRCm39) P104T possibly damaging Het
Lama4 A T 10: 38,918,670 (GRCm39) M384L probably benign Het
Lamb2 T G 9: 108,366,559 (GRCm39) D1590E probably benign Het
Ly6i A T 15: 74,854,879 (GRCm39) C10* probably null Het
Mamdc4 G A 2: 25,454,458 (GRCm39) A1082V probably benign Het
Nlrp4a T A 7: 26,159,117 (GRCm39) L799H probably damaging Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Or2y13 C T 11: 49,414,571 (GRCm39) T7I possibly damaging Het
Or5al6 A T 2: 85,977,059 (GRCm39) N6K probably benign Het
Or6b1 T C 6: 42,815,753 (GRCm39) probably benign Het
Otud6b T C 4: 14,812,543 (GRCm39) H268R probably damaging Het
Peg3 T C 7: 6,714,927 (GRCm39) E138G probably damaging Het
Phactr1 T C 13: 42,863,176 (GRCm39) probably benign Het
Psmf1 A G 2: 151,562,733 (GRCm39) probably benign Het
Rab32 T C 10: 10,422,199 (GRCm39) probably benign Het
Rfwd3 C T 8: 111,999,647 (GRCm39) probably benign Het
Scart2 A G 7: 139,828,913 (GRCm39) T191A probably benign Het
Slc25a3 A G 10: 90,953,977 (GRCm39) V245A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc1 A G 18: 9,992,863 (GRCm39) D545G probably benign Het
Tpst1 T A 5: 130,130,737 (GRCm39) M69K possibly damaging Het
Trank1 T C 9: 111,196,344 (GRCm39) V1456A probably benign Het
Tsc22d2 T A 3: 58,367,628 (GRCm39) probably benign Het
Other mutations in Trappc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16