Incidental Mutation 'R0483:Trappc8'
ID 42162
Institutional Source Beutler Lab
Gene Symbol Trappc8
Ensembl Gene ENSMUSG00000033382
Gene Name trafficking protein particle complex 8
Synonyms 5033403J15Rik, D030074E01Rik, Trs85
MMRRC Submission 038683-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R0483 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 20950280-21029150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20978658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 813 (I813F)
Ref Sequence ENSEMBL: ENSMUSP00000153183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000225661]
AlphaFold A0A286YCX6
Predicted Effect probably benign
Transcript: ENSMUST00000025177
AA Change: I814F

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: I814F

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 157 604 1e-167 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097658
SMART Domains Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 152 605 9.3e-135 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223584
Predicted Effect possibly damaging
Transcript: ENSMUST00000225661
AA Change: I813F

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1248 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 99% (89/90)
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik G A 10: 83,595,502 (GRCm39) probably benign Het
1700048O20Rik A T 9: 121,769,769 (GRCm39) noncoding transcript Het
AA986860 A G 1: 130,671,562 (GRCm39) R595G probably damaging Het
Acrbp C A 6: 125,031,759 (GRCm39) F353L possibly damaging Het
Adamts20 T A 15: 94,251,452 (GRCm39) Q445L probably benign Het
Adgrg5 A G 8: 95,660,136 (GRCm39) D26G possibly damaging Het
Atad2b A T 12: 4,995,035 (GRCm39) probably benign Het
Atg2a G T 19: 6,306,631 (GRCm39) G1439C probably damaging Het
Atg2a G T 19: 6,306,632 (GRCm39) G1439V probably benign Het
B3galt1 G A 2: 67,948,932 (GRCm39) V216I probably benign Het
Bmerb1 T C 16: 13,913,803 (GRCm39) *113R probably null Het
C2cd2 A G 16: 97,660,788 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,564,025 (GRCm39) V884M probably damaging Het
Cers5 C A 15: 99,643,795 (GRCm39) C22F probably damaging Het
Ces1d C A 8: 93,924,307 (GRCm39) C14F probably benign Het
Cntn3 G T 6: 102,180,927 (GRCm39) P756Q probably damaging Het
Col4a1 T C 8: 11,286,423 (GRCm39) probably benign Het
Col5a3 A G 9: 20,693,777 (GRCm39) probably null Het
Cox5b G A 1: 36,731,636 (GRCm39) probably null Het
Cwc27 C A 13: 104,947,724 (GRCm39) probably null Het
Cyp27b1 A C 10: 126,886,026 (GRCm39) M260L probably benign Het
Ddx19b A T 8: 111,735,310 (GRCm39) N465K probably benign Het
Depdc1b T C 13: 108,510,382 (GRCm39) V298A probably benign Het
Dnaaf1 A G 8: 120,317,405 (GRCm39) I311M possibly damaging Het
Dnah17 T C 11: 117,937,950 (GRCm39) N3372S probably benign Het
Dus4l G A 12: 31,691,656 (GRCm39) T184I possibly damaging Het
Dzip3 T C 16: 48,768,076 (GRCm39) K453E possibly damaging Het
Fhod3 C T 18: 24,842,673 (GRCm39) T3M probably damaging Het
Galnt10 T C 11: 57,672,048 (GRCm39) L446P probably damaging Het
Gfod1 T A 13: 43,354,012 (GRCm39) D321V possibly damaging Het
Glt8d2 C A 10: 82,497,987 (GRCm39) probably benign Het
Gm11115 A G 5: 88,301,948 (GRCm39) M4T unknown Het
Gm11568 G A 11: 99,749,209 (GRCm39) C138Y unknown Het
Gm57859 C T 11: 113,580,021 (GRCm39) T472I possibly damaging Het
Gm9742 A G 13: 8,085,052 (GRCm39) noncoding transcript Het
Gnrhr G T 5: 86,345,434 (GRCm39) T84N probably damaging Het
Gpr176 C A 2: 118,110,204 (GRCm39) G352W probably damaging Het
Habp2 T C 19: 56,304,864 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Inpp5j C G 11: 3,449,738 (GRCm39) W681C probably damaging Het
Insl6 A G 19: 29,298,968 (GRCm39) M148T probably benign Het
Itgb1 T G 8: 129,452,648 (GRCm39) M771R possibly damaging Het
Kank1 G T 19: 25,403,357 (GRCm39) probably benign Het
Kcnd3 T C 3: 105,366,942 (GRCm39) Y271H probably damaging Het
Kcnq4 C A 4: 120,573,798 (GRCm39) R221L probably damaging Het
Klk1b26 G A 7: 43,665,772 (GRCm39) V195I probably benign Het
Lactb A C 9: 66,878,145 (GRCm39) V228G possibly damaging Het
Ldb3 T C 14: 34,258,541 (GRCm39) D649G probably damaging Het
Lilra6 T A 7: 3,916,138 (GRCm39) R240S probably benign Het
Lrp2 A G 2: 69,338,145 (GRCm39) Y1212H probably damaging Het
Mapk8ip1 A T 2: 92,216,321 (GRCm39) probably null Het
Mctp1 C T 13: 76,975,846 (GRCm39) L483F probably damaging Het
Mmp16 T C 4: 18,115,878 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,445,033 (GRCm39) L360* probably null Het
Myh4 A G 11: 67,143,123 (GRCm39) E1017G probably damaging Het
Nell1 A T 7: 49,879,928 (GRCm39) M307L probably benign Het
Or10al3 C T 17: 38,012,188 (GRCm39) A209V probably benign Het
Or10d1 A C 9: 39,484,139 (GRCm39) C139G probably damaging Het
Or5m11 A G 2: 85,781,587 (GRCm39) Y60C probably damaging Het
Or8k35 A G 2: 86,424,752 (GRCm39) V140A probably benign Het
Phc2 A G 4: 128,617,100 (GRCm39) probably benign Het
Pp2d1 C A 17: 53,814,999 (GRCm39) C575F probably benign Het
Ptpra T A 2: 130,381,605 (GRCm39) N364K probably damaging Het
R3hcc1l A G 19: 42,550,995 (GRCm39) probably benign Het
Rims1 A G 1: 22,507,263 (GRCm39) probably benign Het
Shank3 G A 15: 89,427,442 (GRCm39) probably benign Het
Sit1 T A 4: 43,482,991 (GRCm39) Q86L possibly damaging Het
Skint4 C A 4: 111,975,136 (GRCm39) probably benign Het
Skint8 G T 4: 111,796,020 (GRCm39) probably benign Het
Smim13 T C 13: 41,426,186 (GRCm39) I74T probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Speg A G 1: 75,361,676 (GRCm39) E230G possibly damaging Het
Spmap2l A G 5: 77,185,204 (GRCm39) probably benign Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Synpo2 T C 3: 122,907,981 (GRCm39) D445G probably damaging Het
Tas2r102 A T 6: 132,739,328 (GRCm39) I79F probably damaging Het
Tmc4 A G 7: 3,670,609 (GRCm39) L494P probably damaging Het
Togaram1 G T 12: 65,053,805 (GRCm39) V1412F probably damaging Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trim26 T C 17: 37,163,598 (GRCm39) probably benign Het
Unc13a T C 8: 72,097,557 (GRCm39) D1171G probably damaging Het
Usp7 A G 16: 8,517,126 (GRCm39) V245A probably damaging Het
Vmn1r38 T A 6: 66,753,979 (GRCm39) T46S probably benign Het
Vmn2r76 T C 7: 85,874,959 (GRCm39) T673A probably damaging Het
Zcchc14 T A 8: 122,355,388 (GRCm39) probably benign Het
Zfp451 T A 1: 33,809,991 (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
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
R6673:Trappc8 UTSW 18 21,018,314 (GRCm39) missense probably benign 0.01
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'- GCCTGTACCTTTGCCATGCTAACAC -3'
(R):5'- TGGGAAACATACACACAGCATCTGG -3'

Sequencing Primer
(F):5'- gcacagacctttattcttagcac -3'
(R):5'- GCATCTGGAGGTGCTAACTTCA -3'
Posted On 2013-05-23