Incidental Mutation 'IGL01295:Trappc12'
ID 73077
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc12
Ensembl Gene ENSMUSG00000020628
Gene Name trafficking protein particle complex 12
Synonyms CGI-87, Ttc15, D930014A20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # IGL01295
Quality Score
Status
Chromosome 12
Chromosomal Location 28740627-28800471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28796761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 257 (S257N)
Ref Sequence ENSEMBL: ENSMUSP00000132009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020954] [ENSMUST00000168129] [ENSMUST00000170994]
AlphaFold Q8K2L8
Predicted Effect probably damaging
Transcript: ENSMUST00000020954
AA Change: S257N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020954
Gene: ENSMUSG00000020628
AA Change: S257N

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 232 245 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
TPR 607 640 3.67e-3 SMART
TPR 642 675 1.44e1 SMART
TPR 682 715 3.37e-2 SMART
TPR 716 749 2.99e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168129
AA Change: S257N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127752
Gene: ENSMUSG00000020628
AA Change: S257N

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 232 245 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
TPR 607 640 3.67e-3 SMART
TPR 642 675 1.44e1 SMART
TPR 682 715 3.37e-2 SMART
TPR 716 749 2.99e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170994
AA Change: S257N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132009
Gene: ENSMUSG00000020628
AA Change: S257N

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
low complexity region 183 196 N/A INTRINSIC
low complexity region 232 245 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223552
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,893 (GRCm39) L691I possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Apol10b A T 15: 77,469,796 (GRCm39) V127E probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Atn1 T C 6: 124,726,239 (GRCm39) E80G probably damaging Het
Carmil2 T C 8: 106,422,148 (GRCm39) M1139T probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Celf5 G T 10: 81,302,914 (GRCm39) probably benign Het
Chd6 G A 2: 160,830,290 (GRCm39) probably benign Het
Col12a1 A T 9: 79,551,208 (GRCm39) V2136E probably damaging Het
Col4a1 G T 8: 11,286,075 (GRCm39) probably benign Het
Dph1 A G 11: 75,071,775 (GRCm39) probably benign Het
Dvl2 G T 11: 69,900,410 (GRCm39) V735F possibly damaging Het
Eif3b A G 5: 140,427,495 (GRCm39) I709V possibly damaging Het
Elp5 C T 11: 69,859,296 (GRCm39) probably benign Het
Exd1 A T 2: 119,360,560 (GRCm39) probably benign Het
Fbxl4 C A 4: 22,427,348 (GRCm39) R530S probably benign Het
Fmo4 A T 1: 162,626,693 (GRCm39) D284E probably damaging Het
Fn3krp A G 11: 121,312,380 (GRCm39) Y31C probably damaging Het
Galnt14 G T 17: 73,811,914 (GRCm39) Q436K probably benign Het
Gm5114 A T 7: 39,057,241 (GRCm39) W793R probably damaging Het
Gm9376 T G 14: 118,505,059 (GRCm39) S164A possibly damaging Het
Gtf2ird2 G A 5: 134,221,603 (GRCm39) D69N probably damaging Het
Hfm1 A C 5: 107,065,472 (GRCm39) M69R possibly damaging Het
Ighv9-1 A C 12: 114,057,619 (GRCm39) S94A probably damaging Het
Ikzf2 C T 1: 69,617,146 (GRCm39) R67H probably benign Het
Ipcef1 A T 10: 6,850,642 (GRCm39) F316L probably damaging Het
Kdsr A G 1: 106,683,187 (GRCm39) V62A possibly damaging Het
Kif23 A T 9: 61,839,411 (GRCm39) C279S possibly damaging Het
Klf5 C T 14: 99,539,157 (GRCm39) T110I probably benign Het
Klhl25 T A 7: 75,515,620 (GRCm39) H175Q probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nfatc4 T C 14: 56,069,962 (GRCm39) V710A probably benign Het
Optn G A 2: 5,037,967 (GRCm39) T409I possibly damaging Het
Or10j3b A T 1: 173,043,440 (GRCm39) Y74F probably damaging Het
Or52a5 C T 7: 103,427,448 (GRCm39) V35I probably benign Het
Pabpc2 T A 18: 39,907,082 (GRCm39) Y116N probably damaging Het
Pafah1b1 G T 11: 74,574,473 (GRCm39) R238S probably damaging Het
Pdzd9 C T 7: 120,267,618 (GRCm39) G66R probably damaging Het
Pih1d1 T C 7: 44,809,388 (GRCm39) L285P probably damaging Het
Pirb G A 7: 3,720,405 (GRCm39) P323S probably damaging Het
Pkd1l1 A G 11: 8,883,685 (GRCm39) F396L possibly damaging Het
Pla2g4d G A 2: 120,112,207 (GRCm39) T108M probably damaging Het
Plin3 T C 17: 56,586,814 (GRCm39) Y411C probably damaging Het
Ppfibp2 T C 7: 107,346,746 (GRCm39) probably benign Het
Prrc2c T C 1: 162,510,061 (GRCm39) S995G probably damaging Het
Ptf1a T C 2: 19,451,429 (GRCm39) I253T probably damaging Het
Ptprb A G 10: 116,198,553 (GRCm39) I1684V probably benign Het
Ptprk G A 10: 28,351,174 (GRCm39) V556I probably benign Het
Rffl A T 11: 82,709,283 (GRCm39) C47S probably damaging Het
Rnf17 C T 14: 56,700,521 (GRCm39) Q569* probably null Het
Shprh A G 10: 11,059,612 (GRCm39) E1121G probably damaging Het
Slc1a5 A G 7: 16,529,787 (GRCm39) D402G probably damaging Het
Slc24a3 G A 2: 145,458,634 (GRCm39) probably null Het
Slc2a13 T A 15: 91,234,335 (GRCm39) probably null Het
Slc30a8 A T 15: 52,169,955 (GRCm39) N61Y possibly damaging Het
Slitrk6 A T 14: 110,988,868 (GRCm39) S280T possibly damaging Het
Smad2 G A 18: 76,435,501 (GRCm39) A365T probably benign Het
Tcp10b C T 17: 13,299,047 (GRCm39) P367S probably damaging Het
Tdp1 A G 12: 99,857,929 (GRCm39) N163D probably benign Het
Thbs1 A G 2: 117,948,808 (GRCm39) D488G possibly damaging Het
Treml1 T C 17: 48,672,627 (GRCm39) probably benign Het
Ugt2b36 A G 5: 87,228,744 (GRCm39) V234A probably damaging Het
Vmn2r86 T G 10: 130,288,895 (GRCm39) H202P probably damaging Het
Vmn2r87 C A 10: 130,307,878 (GRCm39) V787F probably damaging Het
Wbp2nl T A 15: 82,190,619 (GRCm39) M129K probably damaging Het
Zdhhc15 T C X: 103,588,519 (GRCm39) probably null Het
Other mutations in Trappc12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Trappc12 APN 12 28,787,835 (GRCm39) missense probably damaging 0.99
IGL01018:Trappc12 APN 12 28,741,853 (GRCm39) splice site probably benign
IGL01365:Trappc12 APN 12 28,797,401 (GRCm39) missense probably damaging 1.00
IGL01490:Trappc12 APN 12 28,796,914 (GRCm39) missense probably damaging 1.00
IGL01975:Trappc12 APN 12 28,742,491 (GRCm39) critical splice donor site probably null
IGL02851:Trappc12 APN 12 28,741,405 (GRCm39) missense probably damaging 0.98
IGL02885:Trappc12 APN 12 28,797,013 (GRCm39) missense probably benign
IGL03163:Trappc12 APN 12 28,796,653 (GRCm39) missense probably damaging 1.00
R0102:Trappc12 UTSW 12 28,796,751 (GRCm39) missense probably damaging 1.00
R0102:Trappc12 UTSW 12 28,796,751 (GRCm39) missense probably damaging 1.00
R0330:Trappc12 UTSW 12 28,797,259 (GRCm39) missense probably benign 0.00
R0517:Trappc12 UTSW 12 28,747,133 (GRCm39) splice site probably benign
R0837:Trappc12 UTSW 12 28,753,596 (GRCm39) missense possibly damaging 0.92
R1439:Trappc12 UTSW 12 28,797,160 (GRCm39) missense possibly damaging 0.96
R1477:Trappc12 UTSW 12 28,787,751 (GRCm39) missense probably benign 0.25
R1651:Trappc12 UTSW 12 28,741,776 (GRCm39) missense probably benign 0.32
R1899:Trappc12 UTSW 12 28,796,984 (GRCm39) missense probably damaging 0.97
R1900:Trappc12 UTSW 12 28,796,984 (GRCm39) missense probably damaging 0.97
R2133:Trappc12 UTSW 12 28,796,597 (GRCm39) missense probably benign 0.00
R2174:Trappc12 UTSW 12 28,797,380 (GRCm39) missense possibly damaging 0.94
R4449:Trappc12 UTSW 12 28,797,234 (GRCm39) missense probably benign 0.05
R5031:Trappc12 UTSW 12 28,742,512 (GRCm39) missense possibly damaging 0.86
R5209:Trappc12 UTSW 12 28,787,793 (GRCm39) missense probably benign 0.03
R5220:Trappc12 UTSW 12 28,796,696 (GRCm39) missense probably damaging 0.97
R5458:Trappc12 UTSW 12 28,796,389 (GRCm39) missense probably damaging 0.98
R5471:Trappc12 UTSW 12 28,741,499 (GRCm39) missense probably damaging 1.00
R5482:Trappc12 UTSW 12 28,741,324 (GRCm39) missense probably damaging 0.97
R5808:Trappc12 UTSW 12 28,796,863 (GRCm39) missense probably damaging 1.00
R5916:Trappc12 UTSW 12 28,741,513 (GRCm39) missense probably damaging 1.00
R5996:Trappc12 UTSW 12 28,797,113 (GRCm39) missense possibly damaging 0.83
R6378:Trappc12 UTSW 12 28,797,082 (GRCm39) missense probably damaging 0.97
R7669:Trappc12 UTSW 12 28,761,957 (GRCm39) missense probably benign 0.30
R9233:Trappc12 UTSW 12 28,772,414 (GRCm39) missense possibly damaging 0.88
R9323:Trappc12 UTSW 12 28,742,491 (GRCm39) critical splice donor site probably null
R9361:Trappc12 UTSW 12 28,796,417 (GRCm39) missense probably damaging 0.99
R9550:Trappc12 UTSW 12 28,761,985 (GRCm39) critical splice acceptor site probably null
R9784:Trappc12 UTSW 12 28,797,457 (GRCm39) missense probably benign 0.33
Posted On 2013-10-07