Incidental Mutation 'R7964:Trappc11'
| ID |
650272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
046007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7964 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47979979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 186
(I186L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: I186L
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: I186L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,266,146 (GRCm39) |
M3042L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,621,410 (GRCm39) |
L1345Q |
probably benign |
Het |
| Adam20 |
G |
T |
8: 41,249,944 (GRCm39) |
V685F |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,208,576 (GRCm39) |
I614N |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,371 (GRCm39) |
V417M |
probably damaging |
Het |
| Aldh1a7 |
C |
T |
19: 20,693,406 (GRCm39) |
G171D |
probably benign |
Het |
| Aloxe3 |
T |
C |
11: 69,017,362 (GRCm39) |
F45S |
probably damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,500,160 (GRCm39) |
I1104V |
probably benign |
Het |
| Ap3d1 |
C |
A |
10: 80,565,891 (GRCm39) |
R92L |
probably damaging |
Het |
| Aspm |
A |
G |
1: 139,408,424 (GRCm39) |
Q2437R |
probably damaging |
Het |
| Bcl11a |
T |
C |
11: 24,113,353 (GRCm39) |
I232T |
probably benign |
Het |
| Cdcp3 |
G |
T |
7: 130,899,963 (GRCm39) |
R2102L |
unknown |
Het |
| Cemip2 |
T |
C |
19: 21,775,794 (GRCm39) |
|
probably null |
Het |
| Cfap97 |
A |
G |
8: 46,623,237 (GRCm39) |
D209G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,417,303 (GRCm39) |
M2754V |
|
Het |
| Dcdc2c |
A |
G |
12: 28,520,318 (GRCm39) |
I586T |
|
Het |
| Dkk4 |
T |
C |
8: 23,115,368 (GRCm39) |
C73R |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,774,531 (GRCm39) |
N439D |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,268 (GRCm39) |
D467G |
probably damaging |
Het |
| Eif5 |
T |
C |
12: 111,506,608 (GRCm39) |
F67L |
probably benign |
Het |
| Elmod1 |
A |
G |
9: 53,838,860 (GRCm39) |
I100T |
probably benign |
Het |
| Gm9837 |
A |
G |
11: 53,361,001 (GRCm39) |
L71P |
unknown |
Het |
| Hpse |
A |
G |
5: 100,846,777 (GRCm39) |
|
probably null |
Het |
| Insc |
T |
C |
7: 114,445,708 (GRCm39) |
L472P |
probably damaging |
Het |
| Itgax |
A |
C |
7: 127,739,590 (GRCm39) |
|
probably null |
Het |
| Lair1 |
A |
G |
7: 4,013,803 (GRCm39) |
V148A |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,099,977 (GRCm39) |
|
probably null |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,288,079 (GRCm39) |
D855G |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,410,913 (GRCm39) |
R1425L |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 40,488,523 (GRCm39) |
S4521P |
|
Het |
| Nbas |
A |
G |
12: 13,406,896 (GRCm39) |
Y831C |
probably damaging |
Het |
| Nek9 |
C |
A |
12: 85,385,787 (GRCm39) |
R70L |
probably benign |
Het |
| Nlrp2 |
A |
C |
7: 5,331,527 (GRCm39) |
L290V |
probably damaging |
Het |
| Nos1 |
T |
A |
5: 118,038,607 (GRCm39) |
I480N |
probably damaging |
Het |
| Or4a80 |
T |
C |
2: 89,583,158 (GRCm39) |
N5D |
possibly damaging |
Het |
| Pcdhb13 |
C |
A |
18: 37,577,871 (GRCm39) |
Q750K |
possibly damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,827,786 (GRCm39) |
T727I |
|
Het |
| Pik3r6 |
C |
A |
11: 68,424,565 (GRCm39) |
P390Q |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,123,810 (GRCm39) |
S162P |
probably benign |
Het |
| Psg21 |
A |
G |
7: 18,381,136 (GRCm39) |
M469T |
probably benign |
Het |
| Psg27 |
A |
T |
7: 18,299,124 (GRCm39) |
W66R |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,904,185 (GRCm39) |
C371R |
probably damaging |
Het |
| Shroom1 |
G |
T |
11: 53,355,149 (GRCm39) |
K329N |
possibly damaging |
Het |
| Slc35a3 |
A |
G |
3: 116,480,984 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc38a2 |
G |
A |
15: 96,590,453 (GRCm39) |
T297M |
probably benign |
Het |
| Sorl1 |
T |
A |
9: 41,902,697 (GRCm39) |
D1620V |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,618,544 (GRCm39) |
L45Q |
probably benign |
Het |
| Tcaf2 |
G |
A |
6: 42,606,640 (GRCm39) |
S438L |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,316,914 (GRCm39) |
N1878K |
probably benign |
Het |
| Zfp280d |
T |
A |
9: 72,229,740 (GRCm39) |
M349K |
probably damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,274 (GRCm39) |
H227R |
probably benign |
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 |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,960,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGTGTTAGAAGATCCTCAC -3'
(R):5'- GGGTGACAGACTTAGAACTTTATTC -3'
Sequencing Primer
(F):5'- CCTTGCTAATGTAGACCAGGCTAG -3'
(R):5'- GAACTTTATTCCTGATGACAAACTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation