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)
|
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
Domain | Start | End | E-Value | Type |
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
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 |
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |