Incidental Mutation 'R7349:Trappc9'
ID |
570457 |
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 |
045435-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7349 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
72461469-72933053 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 72608718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 897
(L897*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087202
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023276]
[ENSMUST00000089770]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000023276
AA Change: L718*
|
SMART Domains |
Protein: ENSMUSP00000023276 Gene: ENSMUSG00000047921 AA Change: L718*
Domain | Start | End | E-Value | Type |
Pfam:TRAPPC9-Trs120
|
2 |
920 |
3.6e-239 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000089770
AA Change: L897*
|
SMART Domains |
Protein: ENSMUSP00000087202 Gene: ENSMUSG00000047921 AA Change: L897*
Domain | Start | End | E-Value | Type |
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (70/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 60,990,717 (GRCm39) |
T326S |
possibly damaging |
Het |
Acly |
A |
T |
11: 100,412,817 (GRCm39) |
H91Q |
probably benign |
Het |
Acp3 |
T |
A |
9: 104,168,657 (GRCm39) |
I403F |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,742,090 (GRCm39) |
M489L |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,039,435 (GRCm39) |
I565T |
possibly damaging |
Het |
Atg16l2 |
T |
C |
7: 100,939,473 (GRCm39) |
D563G |
probably damaging |
Het |
Atp6v0a2 |
T |
A |
5: 124,789,392 (GRCm39) |
Y386* |
probably null |
Het |
Atp8b4 |
A |
G |
2: 126,167,265 (GRCm39) |
V1078A |
probably benign |
Het |
Bsn |
T |
C |
9: 107,987,982 (GRCm39) |
D2590G |
unknown |
Het |
Casp12 |
T |
C |
9: 5,345,527 (GRCm39) |
|
probably null |
Het |
Ccdc87 |
T |
C |
19: 4,891,868 (GRCm39) |
S787P |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,969,097 (GRCm39) |
T485A |
probably damaging |
Het |
Cstdc5 |
A |
G |
16: 36,184,674 (GRCm39) |
V23A |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,121,426 (GRCm39) |
H810R |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,642,854 (GRCm39) |
Y120F |
unknown |
Het |
Dmgdh |
C |
T |
13: 93,888,741 (GRCm39) |
T793I |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
Eif4e1b |
T |
C |
13: 54,932,006 (GRCm39) |
V30A |
probably benign |
Het |
Ercc5 |
T |
G |
1: 44,220,068 (GRCm39) |
D1113E |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,157,321 (GRCm39) |
N2321D |
possibly damaging |
Het |
Fbrs |
T |
C |
7: 127,081,971 (GRCm39) |
L237P |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
Ftsj3 |
G |
A |
11: 106,140,572 (GRCm39) |
T761I |
probably damaging |
Het |
Gdi2 |
C |
A |
13: 3,606,395 (GRCm39) |
T157N |
probably benign |
Het |
Gm8122 |
C |
A |
14: 43,088,058 (GRCm39) |
|
probably null |
Het |
Gtpbp10 |
T |
C |
5: 5,605,379 (GRCm39) |
E108G |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,448,726 (GRCm39) |
L358P |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,835,971 (GRCm39) |
C271R |
probably benign |
Het |
Hspb1 |
C |
T |
5: 135,918,187 (GRCm39) |
T178M |
possibly damaging |
Het |
Htr3b |
C |
T |
9: 48,847,319 (GRCm39) |
V399M |
probably benign |
Het |
Hydin |
A |
G |
8: 111,124,803 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
A |
17: 27,326,786 (GRCm39) |
|
probably null |
Het |
Iyd |
G |
T |
10: 3,495,638 (GRCm39) |
V99F |
possibly damaging |
Het |
Lrrc36 |
G |
A |
8: 106,178,900 (GRCm39) |
G365D |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,570,148 (GRCm39) |
I858F |
unknown |
Het |
Med12l |
A |
T |
3: 59,165,746 (GRCm39) |
D1488V |
probably damaging |
Het |
Ms4a6c |
T |
A |
19: 11,455,555 (GRCm39) |
N121K |
probably damaging |
Het |
Nlrp1b |
T |
G |
11: 71,072,943 (GRCm39) |
Q300P |
probably benign |
Het |
Nlrp3 |
G |
A |
11: 59,438,912 (GRCm39) |
R163H |
probably damaging |
Het |
Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
Optc |
T |
G |
1: 133,825,617 (GRCm39) |
D356A |
probably damaging |
Het |
Or52h7 |
A |
G |
7: 104,213,857 (GRCm39) |
H143R |
probably benign |
Het |
Or9s15 |
T |
C |
1: 92,524,904 (GRCm39) |
V221A |
possibly damaging |
Het |
Pdzd2 |
C |
G |
15: 12,399,291 (GRCm39) |
V812L |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,278 (GRCm39) |
F691S |
probably damaging |
Het |
Pigk |
T |
C |
3: 152,453,238 (GRCm39) |
F319L |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,378,350 (GRCm39) |
T1035A |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,611,339 (GRCm39) |
T261A |
probably benign |
Het |
Plekhm1 |
A |
G |
11: 103,278,160 (GRCm39) |
F312S |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,862,654 (GRCm39) |
I587N |
probably benign |
Het |
Ppl |
T |
A |
16: 4,922,593 (GRCm39) |
H272L |
probably damaging |
Het |
Prkce |
G |
A |
17: 86,800,783 (GRCm39) |
A400T |
probably benign |
Het |
Ptpn9 |
T |
C |
9: 56,951,660 (GRCm39) |
S324P |
probably benign |
Het |
Ptprk |
A |
T |
10: 28,468,834 (GRCm39) |
N1432I |
possibly damaging |
Het |
R3hdm2 |
T |
C |
10: 127,328,515 (GRCm39) |
S746P |
probably benign |
Het |
Rnf220 |
G |
A |
4: 117,135,015 (GRCm39) |
A412V |
probably damaging |
Het |
Scel |
G |
A |
14: 103,781,315 (GRCm39) |
A154T |
probably benign |
Het |
Sirpb1a |
A |
T |
3: 15,475,664 (GRCm39) |
N290K |
probably damaging |
Het |
Sirpb1c |
A |
T |
3: 15,886,310 (GRCm39) |
|
probably null |
Het |
Sorbs2 |
A |
T |
8: 46,248,860 (GRCm39) |
R704* |
probably null |
Het |
Spast |
T |
C |
17: 74,680,319 (GRCm39) |
V427A |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,482,937 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
A |
6: 12,352,067 (GRCm39) |
G1043C |
|
Het |
Tmem205 |
C |
T |
9: 21,832,410 (GRCm39) |
C167Y |
probably damaging |
Het |
Trim36 |
A |
G |
18: 46,302,495 (GRCm39) |
F518L |
probably benign |
Het |
Ttc12 |
T |
G |
9: 49,359,267 (GRCm39) |
T402P |
possibly damaging |
Het |
Twnk |
T |
C |
19: 44,998,600 (GRCm39) |
V506A |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,485,682 (GRCm39) |
L604* |
probably null |
Het |
Wdr83 |
T |
C |
8: 85,806,460 (GRCm39) |
N113D |
possibly damaging |
Het |
Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
probably damaging |
Het |
|
Other mutations in Trappc9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- TACACGCTGGACTTGAAGGGAG -3'
(R):5'- ATGCCATACCTCTGCACATC -3'
Sequencing Primer
(F):5'- ACTTGAAGGGAGGGGCTCTC -3'
(R):5'- ACCTCTGCACATCTTCAAATAGTGGG -3'
|
Posted On |
2019-09-13 |