Incidental Mutation 'IGL02530:Trappc11'
ID |
297265 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Trappc11
|
Ensembl Gene |
ENSMUSG00000038102 |
Gene Name |
trafficking protein particle complex 11 |
Synonyms |
D030016E14Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02530
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47960617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 27
(E27G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
[ENSMUST00000120987]
|
AlphaFold |
B2RXC1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: E683G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000047562 Gene: ENSMUSG00000038102 AA Change: E683G
Domain | Start | End | E-Value | Type |
Pfam:Foie-gras_1
|
263 |
522 |
3e-78 |
PFAM |
Pfam:Gryzun
|
978 |
1114 |
3.9e-10 |
PFAM |
Pfam:Gryzun-like
|
1036 |
1095 |
2.4e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120987
AA Change: E27G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113779 Gene: ENSMUSG00000038102 AA Change: E27G
Domain | Start | End | E-Value | Type |
Pfam:Gryzun
|
1 |
155 |
4e-25 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123958
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
T |
C |
7: 66,559,124 (GRCm39) |
F305L |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,291,398 (GRCm39) |
H1345R |
probably benign |
Het |
Bloc1s5 |
A |
T |
13: 38,787,859 (GRCm39) |
M175K |
probably damaging |
Het |
C9 |
T |
A |
15: 6,526,613 (GRCm39) |
M549K |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,845,007 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
A |
T |
6: 46,998,670 (GRCm39) |
K907N |
possibly damaging |
Het |
Cox8c |
T |
A |
12: 102,865,752 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp26b1 |
A |
T |
6: 84,551,294 (GRCm39) |
N307K |
possibly damaging |
Het |
Cyp2s1 |
T |
C |
7: 25,515,849 (GRCm39) |
|
probably benign |
Het |
Dpysl2 |
G |
A |
14: 67,061,847 (GRCm39) |
T253I |
probably damaging |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Egflam |
T |
A |
15: 7,252,293 (GRCm39) |
I835F |
probably damaging |
Het |
Eif5a |
A |
T |
11: 69,809,989 (GRCm39) |
H51Q |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,539,422 (GRCm39) |
I637N |
probably damaging |
Het |
Gpr173 |
T |
A |
X: 151,130,092 (GRCm39) |
H127L |
probably damaging |
Het |
Klc3 |
T |
C |
7: 19,130,969 (GRCm39) |
I203V |
probably benign |
Het |
Lsg1 |
T |
C |
16: 30,390,060 (GRCm39) |
K352E |
probably benign |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Med12l |
G |
T |
3: 58,984,510 (GRCm39) |
D483Y |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,058,943 (GRCm39) |
Y694H |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,935,160 (GRCm39) |
R219G |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,450,646 (GRCm39) |
|
probably benign |
Het |
Or2y1f |
A |
T |
11: 49,184,555 (GRCm39) |
M136L |
possibly damaging |
Het |
Or8k33 |
C |
T |
2: 86,384,224 (GRCm39) |
M81I |
possibly damaging |
Het |
Pax3 |
A |
T |
1: 78,098,424 (GRCm39) |
S322T |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Plekhb2 |
T |
C |
1: 34,916,022 (GRCm39) |
V187A |
possibly damaging |
Het |
Pot1a |
A |
T |
6: 25,794,592 (GRCm39) |
F31I |
probably damaging |
Het |
Rpap1 |
A |
T |
2: 119,613,720 (GRCm39) |
|
probably benign |
Het |
Scmh1 |
T |
A |
4: 120,385,343 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,560,522 (GRCm39) |
T1251A |
probably damaging |
Het |
Siglecf |
T |
C |
7: 43,001,634 (GRCm39) |
V148A |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,598,969 (GRCm39) |
*1524W |
probably null |
Het |
Son |
C |
A |
16: 91,455,359 (GRCm39) |
P1369T |
possibly damaging |
Het |
Spp2 |
T |
A |
1: 88,338,868 (GRCm39) |
L25* |
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,090,976 (GRCm39) |
Q1405R |
probably damaging |
Het |
Traf3ip2 |
G |
T |
10: 39,522,902 (GRCm39) |
A463S |
possibly damaging |
Het |
Vmn2r12 |
C |
T |
5: 109,233,858 (GRCm39) |
V785I |
probably damaging |
Het |
Zc3h8 |
A |
G |
2: 128,785,846 (GRCm39) |
|
probably benign |
Het |
Zfp57 |
T |
A |
17: 37,317,056 (GRCm39) |
S45T |
probably damaging |
Het |
|
Other mutations in Trappc11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Trappc11
|
APN |
8 |
47,956,337 (GRCm39) |
unclassified |
probably benign |
|
IGL01300:Trappc11
|
APN |
8 |
47,954,903 (GRCm39) |
missense |
probably benign |
|
IGL01312:Trappc11
|
APN |
8 |
47,958,712 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01344:Trappc11
|
APN |
8 |
47,972,739 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01518:Trappc11
|
APN |
8 |
47,954,904 (GRCm39) |
splice site |
probably null |
|
IGL01747:Trappc11
|
APN |
8 |
47,972,656 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01781:Trappc11
|
APN |
8 |
47,967,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01908:Trappc11
|
APN |
8 |
47,957,029 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01956:Trappc11
|
APN |
8 |
47,981,036 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02266:Trappc11
|
APN |
8 |
47,958,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02377:Trappc11
|
APN |
8 |
47,983,685 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02676:Trappc11
|
APN |
8 |
47,946,448 (GRCm39) |
splice site |
probably benign |
|
IGL03030:Trappc11
|
APN |
8 |
47,966,964 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03393:Trappc11
|
APN |
8 |
47,963,912 (GRCm39) |
missense |
possibly damaging |
0.95 |
bantu
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
bunyoro
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
nyoro
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
serval
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0009:Trappc11
|
UTSW |
8 |
47,956,355 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0043:Trappc11
|
UTSW |
8 |
47,958,610 (GRCm39) |
splice site |
probably benign |
|
R0180:Trappc11
|
UTSW |
8 |
47,981,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0529:Trappc11
|
UTSW |
8 |
47,980,014 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0538:Trappc11
|
UTSW |
8 |
47,956,447 (GRCm39) |
missense |
probably benign |
0.01 |
R0740:Trappc11
|
UTSW |
8 |
47,977,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R1352:Trappc11
|
UTSW |
8 |
47,978,081 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Trappc11
|
UTSW |
8 |
47,957,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R1502:Trappc11
|
UTSW |
8 |
47,983,862 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1589:Trappc11
|
UTSW |
8 |
47,954,715 (GRCm39) |
missense |
probably damaging |
1.00 |
R1741:Trappc11
|
UTSW |
8 |
47,982,362 (GRCm39) |
critical splice donor site |
probably null |
|
R2292:Trappc11
|
UTSW |
8 |
47,958,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R2303:Trappc11
|
UTSW |
8 |
47,956,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R2931:Trappc11
|
UTSW |
8 |
47,956,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R3522:Trappc11
|
UTSW |
8 |
47,951,708 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3714:Trappc11
|
UTSW |
8 |
47,958,351 (GRCm39) |
intron |
probably benign |
|
R3739:Trappc11
|
UTSW |
8 |
47,967,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R4165:Trappc11
|
UTSW |
8 |
47,978,003 (GRCm39) |
splice site |
probably benign |
|
R4581:Trappc11
|
UTSW |
8 |
47,946,380 (GRCm39) |
missense |
probably damaging |
0.97 |
R4598:Trappc11
|
UTSW |
8 |
47,966,801 (GRCm39) |
missense |
probably damaging |
0.98 |
R4939:Trappc11
|
UTSW |
8 |
47,972,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R4990:Trappc11
|
UTSW |
8 |
47,943,930 (GRCm39) |
missense |
probably benign |
0.41 |
R4994:Trappc11
|
UTSW |
8 |
47,975,476 (GRCm39) |
nonsense |
probably null |
|
R5091:Trappc11
|
UTSW |
8 |
47,965,639 (GRCm39) |
missense |
probably benign |
0.00 |
R5123:Trappc11
|
UTSW |
8 |
47,966,437 (GRCm39) |
missense |
probably damaging |
0.99 |
R5176:Trappc11
|
UTSW |
8 |
47,963,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5279:Trappc11
|
UTSW |
8 |
47,958,339 (GRCm39) |
intron |
probably benign |
|
R5293:Trappc11
|
UTSW |
8 |
47,946,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5294:Trappc11
|
UTSW |
8 |
47,983,766 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5661:Trappc11
|
UTSW |
8 |
47,965,642 (GRCm39) |
missense |
probably damaging |
0.99 |
R5838:Trappc11
|
UTSW |
8 |
47,965,594 (GRCm39) |
critical splice donor site |
probably null |
|
R5889:Trappc11
|
UTSW |
8 |
47,972,613 (GRCm39) |
missense |
probably benign |
0.40 |
R5952:Trappc11
|
UTSW |
8 |
47,949,952 (GRCm39) |
critical splice donor site |
probably null |
|
R5959:Trappc11
|
UTSW |
8 |
47,954,593 (GRCm39) |
missense |
probably damaging |
0.97 |
R6239:Trappc11
|
UTSW |
8 |
47,982,529 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6322:Trappc11
|
UTSW |
8 |
47,983,808 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6369:Trappc11
|
UTSW |
8 |
47,965,320 (GRCm39) |
splice site |
probably null |
|
R7541:Trappc11
|
UTSW |
8 |
47,958,617 (GRCm39) |
splice site |
probably null |
|
R7544:Trappc11
|
UTSW |
8 |
47,975,449 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7762:Trappc11
|
UTSW |
8 |
47,975,411 (GRCm39) |
missense |
probably damaging |
0.99 |
R7964:Trappc11
|
UTSW |
8 |
47,979,979 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8183:Trappc11
|
UTSW |
8 |
47,982,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8282:Trappc11
|
UTSW |
8 |
47,969,624 (GRCm39) |
missense |
probably damaging |
0.97 |
R8733:Trappc11
|
UTSW |
8 |
47,954,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Trappc11
|
UTSW |
8 |
47,951,701 (GRCm39) |
missense |
probably benign |
0.44 |
R8853:Trappc11
|
UTSW |
8 |
47,982,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R9544:Trappc11
|
UTSW |
8 |
47,972,713 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9709:Trappc11
|
UTSW |
8 |
47,946,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |