Incidental Mutation 'R6673:Trappc8'
ID 527200
Institutional Source Beutler Lab
Gene Symbol Trappc8
Ensembl Gene ENSMUSG00000033382
Gene Name trafficking protein particle complex 8
Synonyms 5033403J15Rik, D030074E01Rik, Trs85
MMRRC Submission 044793-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R6673 (G1)
Quality Score 170.009
Status Not validated
Chromosome 18
Chromosomal Location 20950280-21029150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21018314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 53 (V53A)
Ref Sequence ENSEMBL: ENSMUSP00000025177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000225661]
AlphaFold A0A286YCX6
Predicted Effect probably benign
Transcript: ENSMUST00000025177
AA Change: V53A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: V53A

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 157 604 1e-167 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097658
AA Change: V53A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: V53A

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 152 605 9.3e-135 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225661
AA Change: V53A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armh4 T A 14: 50,008,049 (GRCm39) M475L probably benign Het
Cenpb A T 2: 131,021,165 (GRCm39) L211H probably damaging Het
Ckmt1 C T 2: 121,190,151 (GRCm39) P82S probably damaging Het
Cspg4b C T 13: 113,504,366 (GRCm39) Q1832* probably null Het
Fbxo38 A G 18: 62,666,986 (GRCm39) C138R probably damaging Het
Hkdc1 A G 10: 62,239,385 (GRCm39) V306A probably damaging Het
Mecom T C 3: 30,034,851 (GRCm39) N275S probably benign Het
Mpdz T C 4: 81,274,667 (GRCm39) D185G probably benign Het
Prtg T A 9: 72,758,964 (GRCm39) N439K probably damaging Het
Rsf1 GGCGGCGG GGCGGCGGGGGCGGCGG 7: 97,229,125 (GRCm39) probably benign Het
Serpina3b A G 12: 104,096,928 (GRCm39) N70D probably damaging Het
Shc1 T C 3: 89,329,269 (GRCm39) S38P possibly damaging Het
Slc13a2 T A 11: 78,288,657 (GRCm39) I540F probably benign Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trim41 TTCCTCCTCCTCCTCCTCCTCCTCCTCC TTCCTCCTCCTCCTCCTCCTCCTCC 11: 48,707,084 (GRCm39) probably benign Het
Other mutations in Trappc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Trappc8 APN 18 20,970,035 (GRCm39) missense probably benign 0.20
IGL01367:Trappc8 APN 18 20,999,176 (GRCm39) missense probably benign 0.01
IGL01537:Trappc8 APN 18 20,968,061 (GRCm39) missense probably benign
IGL01563:Trappc8 APN 18 20,970,103 (GRCm39) missense probably benign 0.00
IGL01982:Trappc8 APN 18 21,007,769 (GRCm39) splice site probably benign
IGL02709:Trappc8 APN 18 20,970,235 (GRCm39) missense possibly damaging 0.94
IGL03126:Trappc8 APN 18 20,996,652 (GRCm39) missense probably damaging 1.00
IGL03290:Trappc8 APN 18 20,953,992 (GRCm39) missense probably damaging 1.00
IGL03348:Trappc8 APN 18 20,985,838 (GRCm39) missense probably damaging 1.00
hoppa UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
Lagomorpha UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
rabbit UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
E7848:Trappc8 UTSW 18 20,983,975 (GRCm39) missense probably damaging 0.99
R0483:Trappc8 UTSW 18 20,978,658 (GRCm39) missense possibly damaging 0.60
R0492:Trappc8 UTSW 18 20,999,243 (GRCm39) missense probably benign 0.07
R0506:Trappc8 UTSW 18 20,977,245 (GRCm39) missense possibly damaging 0.49
R0610:Trappc8 UTSW 18 20,970,245 (GRCm39) missense probably damaging 1.00
R0892:Trappc8 UTSW 18 20,964,665 (GRCm39) critical splice donor site probably null
R1561:Trappc8 UTSW 18 20,974,680 (GRCm39) nonsense probably null
R1589:Trappc8 UTSW 18 20,996,608 (GRCm39) missense probably damaging 1.00
R1700:Trappc8 UTSW 18 20,966,055 (GRCm39) missense probably damaging 1.00
R1785:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1786:Trappc8 UTSW 18 20,967,997 (GRCm39) splice site probably null
R1989:Trappc8 UTSW 18 20,978,708 (GRCm39) missense probably benign 0.04
R2181:Trappc8 UTSW 18 20,952,279 (GRCm39) critical splice donor site probably null
R2294:Trappc8 UTSW 18 20,999,211 (GRCm39) nonsense probably null
R4551:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R4594:Trappc8 UTSW 18 20,970,005 (GRCm39) missense probably benign
R4631:Trappc8 UTSW 18 21,000,865 (GRCm39) missense probably benign 0.22
R4734:Trappc8 UTSW 18 20,974,629 (GRCm39) nonsense probably null
R4834:Trappc8 UTSW 18 20,958,122 (GRCm39) missense probably damaging 0.99
R5114:Trappc8 UTSW 18 20,977,237 (GRCm39) missense probably benign 0.04
R5262:Trappc8 UTSW 18 20,951,247 (GRCm39) missense probably benign 0.11
R5384:Trappc8 UTSW 18 20,966,119 (GRCm39) splice site probably null
R5476:Trappc8 UTSW 18 20,998,165 (GRCm39) missense probably damaging 1.00
R5503:Trappc8 UTSW 18 20,969,957 (GRCm39) missense probably benign 0.05
R5577:Trappc8 UTSW 18 20,969,836 (GRCm39) nonsense probably null
R5809:Trappc8 UTSW 18 20,951,139 (GRCm39) missense probably benign 0.08
R5825:Trappc8 UTSW 18 21,006,977 (GRCm39) missense probably damaging 1.00
R5886:Trappc8 UTSW 18 21,007,737 (GRCm39) missense probably damaging 1.00
R5936:Trappc8 UTSW 18 21,007,745 (GRCm39) missense probably damaging 1.00
R6024:Trappc8 UTSW 18 20,966,066 (GRCm39) missense probably damaging 0.98
R6105:Trappc8 UTSW 18 20,979,504 (GRCm39) critical splice donor site probably null
R6229:Trappc8 UTSW 18 21,003,802 (GRCm39) missense probably benign 0.00
R6376:Trappc8 UTSW 18 20,970,132 (GRCm39) missense probably benign 0.07
R6403:Trappc8 UTSW 18 20,999,128 (GRCm39) missense probably benign
R6459:Trappc8 UTSW 18 20,969,925 (GRCm39) missense probably benign 0.40
R7041:Trappc8 UTSW 18 21,007,729 (GRCm39) missense probably benign 0.10
R7276:Trappc8 UTSW 18 20,951,148 (GRCm39) missense probably damaging 0.99
R7341:Trappc8 UTSW 18 20,985,704 (GRCm39) missense probably damaging 1.00
R7684:Trappc8 UTSW 18 20,996,559 (GRCm39) missense probably benign 0.01
R7702:Trappc8 UTSW 18 20,958,119 (GRCm39) missense probably damaging 0.99
R8210:Trappc8 UTSW 18 21,006,938 (GRCm39) critical splice donor site probably null
R8958:Trappc8 UTSW 18 21,003,667 (GRCm39) missense probably benign 0.02
R9037:Trappc8 UTSW 18 20,961,539 (GRCm39) missense probably benign 0.00
R9217:Trappc8 UTSW 18 21,000,822 (GRCm39) missense probably benign 0.01
R9246:Trappc8 UTSW 18 20,993,590 (GRCm39) missense possibly damaging 0.64
R9623:Trappc8 UTSW 18 20,983,975 (GRCm39) missense possibly damaging 0.91
R9766:Trappc8 UTSW 18 20,979,630 (GRCm39) missense possibly damaging 0.68
X0065:Trappc8 UTSW 18 20,993,579 (GRCm39) missense probably benign 0.03
Z1177:Trappc8 UTSW 18 20,964,720 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCTGCTGTAATCACATTAGCG -3'
(R):5'- CCAGTAGCGTTGTATGAGAGG -3'

Sequencing Primer
(F):5'- AGCGACTAATCCTTCTGCAGG -3'
(R):5'- ACACGTTGAGACAGCCTCTTGTAG -3'
Posted On 2018-07-23