Incidental Mutation 'IGL03348:Trappc8'
ID419572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc8
Ensembl Gene ENSMUSG00000033382
Gene Nametrafficking protein particle complex 8
SynonymsD030074E01Rik, Trs85, 5033403J15Rik
Accession Numbers

Genbank: NM_029491; MGI: 2443008

Is this an essential gene? Probably essential (E-score: 0.960) question?
Stock #IGL03348
Quality Score
Status
Chromosome18
Chromosomal Location20817223-20896093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20852781 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 601 (D601G)
Ref Sequence ENSEMBL: ENSMUSP00000095262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025177] [ENSMUST00000097658] [ENSMUST00000224530] [ENSMUST00000225661]
Predicted Effect possibly damaging
Transcript: ENSMUST00000025177
AA Change: D601G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025177
Gene: ENSMUSG00000033382
AA Change: D601G

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 157 604 1e-167 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000097658
AA Change: D601G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095262
Gene: ENSMUSG00000033382
AA Change: D601G

DomainStartEndE-ValueType
Pfam:TRAPPC-Trs85 152 605 9.3e-135 PFAM
low complexity region 769 777 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223584
Predicted Effect probably benign
Transcript: ENSMUST00000224530
Predicted Effect probably damaging
Transcript: ENSMUST00000225661
AA Change: D600G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(11) : Gene trapped(11)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 99,421,692 noncoding transcript Het
Adgrv1 T C 13: 81,499,058 N3121S possibly damaging Het
Aldh16a1 C T 7: 45,141,975 R102Q possibly damaging Het
Atp9b A T 18: 80,836,422 I346K possibly damaging Het
Baiap2l1 T C 5: 144,278,531 K388R probably benign Het
BC024978 T G 7: 27,197,120 probably null Het
Cfap65 A C 1: 74,927,619 I303S probably damaging Het
Chd5 C T 4: 152,376,685 P1244L probably damaging Het
Col12a1 A G 9: 79,693,430 S791P possibly damaging Het
Ctsz T A 2: 174,428,697 I231F probably damaging Het
Dnah8 A G 17: 30,746,986 T2431A probably damaging Het
Eif4b T C 15: 102,093,031 probably benign Het
Epha4 T C 1: 77,507,172 I67V possibly damaging Het
Exoc1 T A 5: 76,535,593 V55D probably damaging Het
Exosc8 A T 3: 54,732,722 D72E possibly damaging Het
F5 C T 1: 164,194,152 P1399S possibly damaging Het
Fmo1 T A 1: 162,850,151 N132I possibly damaging Het
Fndc1 T A 17: 7,772,647 H739L unknown Het
Glb1l2 T C 9: 26,765,680 D415G probably benign Het
Gphn T A 12: 78,627,119 H498Q probably damaging Het
Lrrc56 A G 7: 141,207,240 N342S probably benign Het
Mbnl3 G A X: 51,164,548 T16I probably damaging Het
Mrps5 T G 2: 127,601,385 H294Q probably damaging Het
Neu4 A G 1: 94,024,974 Y355C possibly damaging Het
Obscn A T 11: 59,050,362 D5105E probably damaging Het
Olfr1187-ps1 T C 2: 88,540,141 noncoding transcript Het
Olfr1305 C A 2: 111,873,148 A236S probably damaging Het
Olfr498 A G 7: 108,465,408 D28G probably benign Het
Olfr725 A G 14: 50,034,755 I216T probably benign Het
Parp1 T A 1: 180,577,707 probably benign Het
Plac1 A T X: 53,070,640 N64K probably damaging Het
Plcd1 C A 9: 119,072,490 K655N possibly damaging Het
Psme4 T C 11: 30,876,796 S1772P probably damaging Het
Shcbp1 C T 8: 4,765,089 V130I probably benign Het
Slc25a11 T C 11: 70,645,344 probably benign Het
Svep1 C T 4: 58,113,635 G1004E probably damaging Het
Tars2 T C 3: 95,740,268 probably null Het
Tbc1d12 C T 19: 38,916,620 T593I probably damaging Het
Tcerg1l T A 7: 138,213,371 E526D probably damaging Het
Tmcc3 G A 10: 94,579,080 V215M possibly damaging Het
Trp53bp2 T A 1: 182,453,748 N971K probably damaging Het
Ube2g2 A T 10: 77,630,877 E36D probably benign Het
Uggt2 T A 14: 119,070,888 R360S probably benign Het
Utp20 A G 10: 88,758,317 V2182A probably benign Het
Other mutations in Trappc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Trappc8 APN 18 20836978 missense probably benign 0.20
IGL01367:Trappc8 APN 18 20866119 missense probably benign 0.01
IGL01537:Trappc8 APN 18 20835004 missense probably benign
IGL01563:Trappc8 APN 18 20837046 missense probably benign 0.00
IGL01982:Trappc8 APN 18 20874712 splice site probably benign
IGL02709:Trappc8 APN 18 20837178 missense possibly damaging 0.94
IGL03126:Trappc8 APN 18 20863595 missense probably damaging 1.00
IGL03290:Trappc8 APN 18 20820935 missense probably damaging 1.00
hoppa UTSW 18 20836900 missense probably benign 0.05
Lagomorpha UTSW 18 20818190 missense probably benign 0.11
rabbit UTSW 18 20874680 missense probably damaging 1.00
E7848:Trappc8 UTSW 18 20850918 missense probably damaging 0.99
R0483:Trappc8 UTSW 18 20845601 missense possibly damaging 0.60
R0492:Trappc8 UTSW 18 20866186 missense probably benign 0.07
R0506:Trappc8 UTSW 18 20844188 missense possibly damaging 0.49
R0610:Trappc8 UTSW 18 20837188 missense probably damaging 1.00
R0892:Trappc8 UTSW 18 20831608 critical splice donor site probably null
R1561:Trappc8 UTSW 18 20841623 nonsense probably null
R1589:Trappc8 UTSW 18 20863551 missense probably damaging 1.00
R1700:Trappc8 UTSW 18 20832998 missense probably damaging 1.00
R1785:Trappc8 UTSW 18 20834940 splice site probably null
R1786:Trappc8 UTSW 18 20834940 splice site probably null
R1989:Trappc8 UTSW 18 20845651 missense probably benign 0.04
R2181:Trappc8 UTSW 18 20819222 critical splice donor site probably null
R2294:Trappc8 UTSW 18 20866154 nonsense probably null
R4551:Trappc8 UTSW 18 20874672 missense probably benign 0.10
R4594:Trappc8 UTSW 18 20836948 missense probably benign
R4631:Trappc8 UTSW 18 20867808 missense probably benign 0.22
R4734:Trappc8 UTSW 18 20841572 nonsense probably null
R4834:Trappc8 UTSW 18 20825065 missense probably damaging 0.99
R5114:Trappc8 UTSW 18 20844180 missense probably benign 0.04
R5262:Trappc8 UTSW 18 20818190 missense probably benign 0.11
R5384:Trappc8 UTSW 18 20833062 intron probably null
R5476:Trappc8 UTSW 18 20865108 missense probably damaging 1.00
R5503:Trappc8 UTSW 18 20836900 missense probably benign 0.05
R5577:Trappc8 UTSW 18 20836779 nonsense probably null
R5809:Trappc8 UTSW 18 20818082 missense probably benign 0.08
R5825:Trappc8 UTSW 18 20873920 missense probably damaging 1.00
R5886:Trappc8 UTSW 18 20874680 missense probably damaging 1.00
R5936:Trappc8 UTSW 18 20874688 missense probably damaging 1.00
R6024:Trappc8 UTSW 18 20833009 missense probably damaging 0.98
R6105:Trappc8 UTSW 18 20846447 critical splice donor site probably null
R6229:Trappc8 UTSW 18 20870745 missense probably benign 0.00
R6376:Trappc8 UTSW 18 20837075 missense probably benign 0.07
R6403:Trappc8 UTSW 18 20866071 missense probably benign
R6459:Trappc8 UTSW 18 20836868 missense probably benign 0.40
R6673:Trappc8 UTSW 18 20885257 missense probably benign 0.01
R7041:Trappc8 UTSW 18 20874672 missense probably benign 0.10
R7276:Trappc8 UTSW 18 20818091 missense probably damaging 0.99
R7341:Trappc8 UTSW 18 20852647 missense probably damaging 1.00
R7684:Trappc8 UTSW 18 20863502 missense probably benign 0.01
R7702:Trappc8 UTSW 18 20825062 missense probably damaging 0.99
X0065:Trappc8 UTSW 18 20860522 missense probably benign 0.03
Posted On2016-08-02