Incidental Mutation 'IGL01348:Trappc9'
ID 75165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc9
Ensembl Gene ENSMUSG00000047921
Gene Name trafficking protein particle complex 9
Synonyms TRS130, Nibp, 2900005P22Rik, 4632408O18Rik, 1810044A24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01348
Quality Score
Status
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72808858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 556 (E556V)
Ref Sequence ENSEMBL: ENSMUSP00000023276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023276
AA Change: E556V

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: E556V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089770
AA Change: E735V

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: E735V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 182 350 4.1e-20 PFAM
Pfam:TRAPPC9-Trs120 434 664 2.2e-16 PFAM
low complexity region 993 1004 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168191
AA Change: E735V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: E735V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170633
AA Change: E744V

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: E744V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 820 7.6e-224 PFAM
coiled coil region 857 885 N/A INTRINSIC
low complexity region 906 929 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230270
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 protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Nek11 C T 9: 105,270,112 (GRCm39) G37S probably damaging Het
Npc1l1 T C 11: 6,177,974 (GRCm39) N479D probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc12a1 A G 2: 125,036,051 (GRCm39) N641S probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Tpx2 A G 2: 152,735,511 (GRCm39) K713R probably damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Trpv1 G A 11: 73,129,078 (GRCm39) probably null Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Trappc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Trappc9 APN 15 72,897,875 (GRCm39) missense possibly damaging 0.79
IGL01367:Trappc9 APN 15 72,462,002 (GRCm39) missense probably benign 0.31
IGL01521:Trappc9 APN 15 72,924,016 (GRCm39) missense probably damaging 1.00
IGL01726:Trappc9 APN 15 72,817,971 (GRCm39) missense probably damaging 0.98
IGL01881:Trappc9 APN 15 72,871,841 (GRCm39) missense probably damaging 1.00
IGL02214:Trappc9 APN 15 72,884,731 (GRCm39) nonsense probably null
IGL02693:Trappc9 APN 15 72,835,542 (GRCm39) splice site probably benign
IGL03229:Trappc9 APN 15 72,930,305 (GRCm39) missense probably damaging 1.00
basilio UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
Boomboom UTSW 15 72,608,718 (GRCm39) nonsense probably null
bronto UTSW 15 72,930,087 (GRCm39) nonsense probably null
Earl UTSW 15 72,608,626 (GRCm39) nonsense probably null
Sotto_aceto UTSW 15 72,557,188 (GRCm39) missense probably damaging 0.99
P0026:Trappc9 UTSW 15 72,824,931 (GRCm39) missense probably damaging 1.00
PIT4453001:Trappc9 UTSW 15 72,903,447 (GRCm39) frame shift probably null
PIT4519001:Trappc9 UTSW 15 72,824,943 (GRCm39) missense probably benign
R0001:Trappc9 UTSW 15 72,835,511 (GRCm39) missense probably damaging 1.00
R0094:Trappc9 UTSW 15 72,894,929 (GRCm38) intron probably benign
R0745:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0747:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0800:Trappc9 UTSW 15 72,824,981 (GRCm39) splice site probably benign
R0816:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0819:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0820:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0893:Trappc9 UTSW 15 72,461,956 (GRCm39) missense probably damaging 1.00
R0976:Trappc9 UTSW 15 72,871,823 (GRCm39) missense probably damaging 0.99
R1119:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1266:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1453:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1454:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1531:Trappc9 UTSW 15 72,565,397 (GRCm39) nonsense probably null
R1543:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1563:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1565:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1600:Trappc9 UTSW 15 72,808,958 (GRCm39) nonsense probably null
R1712:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1756:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1789:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1978:Trappc9 UTSW 15 72,871,874 (GRCm39) missense probably damaging 1.00
R2001:Trappc9 UTSW 15 72,929,885 (GRCm39) missense probably damaging 0.99
R2312:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R2334:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R2926:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3123:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3124:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3125:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3813:Trappc9 UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
R4012:Trappc9 UTSW 15 72,903,472 (GRCm39) missense possibly damaging 0.95
R4080:Trappc9 UTSW 15 72,813,796 (GRCm39) missense probably damaging 1.00
R4282:Trappc9 UTSW 15 72,462,641 (GRCm39) missense probably damaging 1.00
R4572:Trappc9 UTSW 15 72,808,916 (GRCm39) missense possibly damaging 0.61
R4739:Trappc9 UTSW 15 72,808,909 (GRCm39) missense probably damaging 0.97
R4959:Trappc9 UTSW 15 72,808,905 (GRCm39) missense probably damaging 1.00
R4973:Trappc9 UTSW 15 72,808,905 (GRCm39) missense probably damaging 1.00
R5123:Trappc9 UTSW 15 72,785,215 (GRCm39) intron probably benign
R5128:Trappc9 UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
R5228:Trappc9 UTSW 15 72,929,844 (GRCm39) missense probably damaging 1.00
R5362:Trappc9 UTSW 15 72,930,066 (GRCm39) missense possibly damaging 0.68
R5802:Trappc9 UTSW 15 72,557,188 (GRCm39) missense probably damaging 0.99
R6032:Trappc9 UTSW 15 72,797,379 (GRCm39) missense probably benign 0.43
R6032:Trappc9 UTSW 15 72,797,379 (GRCm39) missense probably benign 0.43
R6154:Trappc9 UTSW 15 72,929,930 (GRCm39) missense probably benign 0.03
R6372:Trappc9 UTSW 15 72,461,923 (GRCm39) missense possibly damaging 0.75
R6661:Trappc9 UTSW 15 72,461,993 (GRCm39) missense possibly damaging 0.55
R6864:Trappc9 UTSW 15 72,809,011 (GRCm39) splice site probably null
R6893:Trappc9 UTSW 15 72,797,499 (GRCm39) missense possibly damaging 0.93
R7099:Trappc9 UTSW 15 72,565,468 (GRCm39) missense probably benign 0.00
R7276:Trappc9 UTSW 15 72,924,119 (GRCm39) missense probably damaging 0.99
R7349:Trappc9 UTSW 15 72,608,718 (GRCm39) nonsense probably null
R8260:Trappc9 UTSW 15 72,813,758 (GRCm39) nonsense probably null
R8399:Trappc9 UTSW 15 72,924,131 (GRCm39) missense probably damaging 1.00
R8683:Trappc9 UTSW 15 72,884,664 (GRCm39) missense probably benign 0.26
R8839:Trappc9 UTSW 15 72,930,087 (GRCm39) nonsense probably null
R8945:Trappc9 UTSW 15 72,929,945 (GRCm39) missense probably benign
R9083:Trappc9 UTSW 15 72,608,626 (GRCm39) nonsense probably null
R9323:Trappc9 UTSW 15 72,565,431 (GRCm39) missense probably benign 0.41
R9329:Trappc9 UTSW 15 72,673,202 (GRCm39) missense unknown
R9366:Trappc9 UTSW 15 72,808,937 (GRCm39) missense probably benign
R9723:Trappc9 UTSW 15 72,461,963 (GRCm39) missense possibly damaging 0.87
RF008:Trappc9 UTSW 15 72,673,138 (GRCm39) small insertion probably benign
RF009:Trappc9 UTSW 15 72,673,136 (GRCm39) small insertion probably benign
RF014:Trappc9 UTSW 15 72,673,132 (GRCm39) small insertion probably benign
RF016:Trappc9 UTSW 15 72,673,138 (GRCm39) small insertion probably benign
RF023:Trappc9 UTSW 15 72,673,180 (GRCm39) small insertion probably benign
RF023:Trappc9 UTSW 15 72,673,173 (GRCm39) small insertion probably benign
RF028:Trappc9 UTSW 15 72,673,139 (GRCm39) small insertion probably benign
RF029:Trappc9 UTSW 15 72,673,172 (GRCm39) small insertion probably benign
RF030:Trappc9 UTSW 15 72,673,174 (GRCm39) small insertion probably benign
RF034:Trappc9 UTSW 15 72,673,147 (GRCm39) small insertion probably benign
RF036:Trappc9 UTSW 15 72,673,169 (GRCm39) small insertion probably benign
RF038:Trappc9 UTSW 15 72,673,172 (GRCm39) small insertion probably benign
RF040:Trappc9 UTSW 15 72,673,141 (GRCm39) small insertion probably benign
RF042:Trappc9 UTSW 15 72,673,132 (GRCm39) small insertion probably benign
RF043:Trappc9 UTSW 15 72,673,154 (GRCm39) small insertion probably benign
RF049:Trappc9 UTSW 15 72,673,155 (GRCm39) small insertion probably benign
RF049:Trappc9 UTSW 15 72,673,150 (GRCm39) small insertion probably benign
RF053:Trappc9 UTSW 15 72,673,177 (GRCm39) small insertion probably benign
RF057:Trappc9 UTSW 15 72,673,144 (GRCm39) small insertion probably benign
RF063:Trappc9 UTSW 15 72,673,173 (GRCm39) small insertion probably benign
RF063:Trappc9 UTSW 15 72,673,169 (GRCm39) small insertion probably benign
Z1177:Trappc9 UTSW 15 72,924,011 (GRCm39) missense probably null 0.51
Posted On 2013-10-07