Incidental Mutation 'R0893:Trappc9'
ID 83618
Institutional Source Beutler Lab
Gene Symbol Trappc9
Ensembl Gene ENSMUSG00000047921
Gene Name trafficking protein particle complex 9
Synonyms TRS130, Nibp, 2900005P22Rik, 4632408O18Rik, 1810044A24Rik
MMRRC Submission 039056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0893 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72461956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 1103 (G1103D)
Ref Sequence ENSEMBL: ENSMUSP00000087202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023276
AA Change: G924D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: G924D

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089770
AA Change: G1103D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: G1103D

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 noncoding transcript
Transcript: ENSMUST00000230426
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,266,082 (GRCm39) probably benign Het
Adnp A T 2: 168,025,647 (GRCm39) F549L possibly damaging Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Aldh8a1 T A 10: 21,267,593 (GRCm39) M326K probably benign Het
Amdhd1 A T 10: 93,363,513 (GRCm39) M295K probably damaging Het
Arhgef4 T A 1: 34,846,191 (GRCm39) C324S probably damaging Het
Car8 A T 4: 8,238,119 (GRCm39) probably null Het
Cc2d1a T C 8: 84,867,468 (GRCm39) probably benign Het
Cd81 G A 7: 142,616,242 (GRCm39) V27M possibly damaging Het
Ces1b A T 8: 93,806,056 (GRCm39) S62T probably benign Het
Cfb A G 17: 35,077,031 (GRCm39) S30P probably damaging Het
Cmtm3 A G 8: 105,070,543 (GRCm39) M101V possibly damaging Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
Ddb1 C T 19: 10,590,280 (GRCm39) S269L probably benign Het
Ddx25 G A 9: 35,465,686 (GRCm39) Q143* probably null Het
Dis3l2 T A 1: 86,971,928 (GRCm39) probably null Het
Dlgap4 G T 2: 156,587,898 (GRCm39) E598* probably null Het
Dus1l C T 11: 120,680,262 (GRCm39) G471D possibly damaging Het
Elp4 C A 2: 105,727,290 (GRCm39) probably benign Het
Eya3 A G 4: 132,417,097 (GRCm39) N194S probably benign Het
Golgb1 G T 16: 36,732,639 (GRCm39) V629L possibly damaging Het
Hars2 G A 18: 36,920,648 (GRCm39) A164T possibly damaging Het
Hexb T A 13: 97,322,135 (GRCm39) I217L probably benign Het
Hgh1 A G 15: 76,253,848 (GRCm39) probably null Het
Hsd3b3 A T 3: 98,649,757 (GRCm39) probably null Het
Ighg2c T A 12: 113,251,053 (GRCm39) N321Y unknown Het
Il5 A G 11: 53,611,763 (GRCm39) T34A probably benign Het
Jph1 C A 1: 17,074,507 (GRCm39) E504* probably null Het
Kif2b G T 11: 91,466,420 (GRCm39) T621K probably benign Het
Kmt2c A T 5: 25,556,268 (GRCm39) probably benign Het
Leprotl1 A G 8: 34,606,006 (GRCm39) probably null Het
Lpar3 C T 3: 145,946,348 (GRCm39) R9C possibly damaging Het
Map1a A G 2: 121,131,014 (GRCm39) E372G probably damaging Het
Map2 C A 1: 66,419,927 (GRCm39) T86K probably damaging Het
Map7 A G 10: 20,149,629 (GRCm39) probably null Het
Mdn1 T C 4: 32,701,713 (GRCm39) V1482A probably benign Het
Mks1 G A 11: 87,747,777 (GRCm39) probably benign Het
Morf4l1 T G 9: 89,984,403 (GRCm39) K102N probably damaging Het
Mroh1 T A 15: 76,293,138 (GRCm39) V304D possibly damaging Het
Mtg1 G A 7: 139,729,665 (GRCm39) V252M probably damaging Het
Myh13 A T 11: 67,225,427 (GRCm39) D264V probably damaging Het
Myh2 A G 11: 67,077,334 (GRCm39) Y823C possibly damaging Het
Myoz1 A T 14: 20,701,252 (GRCm39) S112R probably benign Het
Ncapd2 A G 6: 125,150,445 (GRCm39) V860A probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Npffr1 T C 10: 61,450,010 (GRCm39) F95L possibly damaging Het
Or51f1e G T 7: 102,747,641 (GRCm39) R231L probably benign Het
Or8b9 T C 9: 37,766,492 (GRCm39) I126T probably damaging Het
Orc4 A C 2: 48,822,622 (GRCm39) probably benign Het
P3h3 A C 6: 124,822,476 (GRCm39) I565R probably damaging Het
Pak4 T C 7: 28,259,202 (GRCm39) D552G probably benign Het
Pcdhb4 G T 18: 37,442,423 (GRCm39) probably null Het
Pdcd4 G T 19: 53,917,525 (GRCm39) R454L probably damaging Het
Phf8-ps T C 17: 33,284,263 (GRCm39) I846M probably benign Het
Pkd1l2 A G 8: 117,771,231 (GRCm39) I1116T probably damaging Het
Plcb2 A G 2: 118,555,586 (GRCm39) probably benign Het
Pmpca T C 2: 26,283,230 (GRCm39) probably benign Het
Pnpla7 T A 2: 24,887,252 (GRCm39) I32N probably damaging Het
Prpf8 A G 11: 75,384,775 (GRCm39) K718E probably damaging Het
Racgap1 C T 15: 99,524,411 (GRCm39) A359T probably benign Het
Rgs3 G A 4: 62,523,798 (GRCm39) probably null Het
Rhpn1 A G 15: 75,583,503 (GRCm39) E356G probably damaging Het
Rps6ka5 T C 12: 100,540,697 (GRCm39) H488R possibly damaging Het
Scn11a A G 9: 119,632,396 (GRCm39) probably null Het
Sema4f A T 6: 82,912,948 (GRCm39) probably benign Het
Serpina1f A G 12: 103,660,094 (GRCm39) S63P probably damaging Het
Slc9a3 T C 13: 74,307,365 (GRCm39) W386R probably damaging Het
Slc9b1 A C 3: 135,100,651 (GRCm39) L465F probably benign Het
Smc5 A G 19: 23,241,017 (GRCm39) V165A possibly damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tinagl1 G T 4: 130,067,816 (GRCm39) D59E probably damaging Het
Tns3 A G 11: 8,443,302 (GRCm39) Y354H probably damaging Het
Unc79 A T 12: 102,957,687 (GRCm39) D34V probably damaging Het
Unc80 T C 1: 66,560,645 (GRCm39) L791P probably damaging Het
Unc93a2 A G 17: 7,641,926 (GRCm39) L174P probably damaging Het
Xpo7 G T 14: 70,903,537 (GRCm39) probably benign Het
Zbtb1 T A 12: 76,432,113 (GRCm39) I33N probably damaging Het
Other mutations in Trappc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Trappc9 APN 15 72,897,875 (GRCm39) missense possibly damaging 0.79
IGL01348:Trappc9 APN 15 72,808,858 (GRCm39) missense possibly damaging 0.64
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
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
Predicted Primers PCR Primer
(F):5'- GATGGCAGATCAGAAAGGCTCCTC -3'
(R):5'- ACCAGTGCCAGGCAAGTTCAAG -3'

Sequencing Primer
(F):5'- GGTCGCTCAGCATAATAGGC -3'
(R):5'- GCAAGTTCAAGGCTCTCCTAGTAG -3'
Posted On 2013-11-08