Incidental Mutation 'R0529:Trappc11'
| ID |
49054 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
038721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0529 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47980014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: V174A
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: V174A
| 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 |
noncoding transcript
Transcript: ENSMUST00000123958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131551
|
| Meta Mutation Damage Score |
0.7592 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
97% (58/60) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,211,228 (GRCm39) |
V126I |
probably benign |
Het |
| Aasdh |
A |
C |
5: 77,024,114 (GRCm39) |
Y179* |
probably null |
Het |
| Afp |
A |
G |
5: 90,652,254 (GRCm39) |
Y415C |
probably damaging |
Het |
| Aldh5a1 |
G |
T |
13: 25,097,856 (GRCm39) |
T393K |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,146 (GRCm39) |
S77P |
probably benign |
Het |
| Axl |
A |
G |
7: 25,486,712 (GRCm39) |
|
probably benign |
Het |
| Card10 |
A |
G |
15: 78,664,675 (GRCm39) |
|
probably null |
Het |
| Ccdc71l |
G |
A |
12: 32,429,251 (GRCm39) |
S90N |
probably damaging |
Het |
| Cebpa |
A |
T |
7: 34,819,624 (GRCm39) |
T261S |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,879,481 (GRCm39) |
E219G |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,986,062 (GRCm39) |
L1010H |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,831,394 (GRCm39) |
|
probably benign |
Het |
| Cyld |
A |
G |
8: 89,456,387 (GRCm39) |
E479G |
probably benign |
Het |
| Dmp1 |
A |
G |
5: 104,360,092 (GRCm39) |
E256G |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,822,846 (GRCm39) |
D1140G |
probably damaging |
Het |
| Drd2 |
A |
C |
9: 49,318,374 (GRCm39) |
M439L |
probably benign |
Het |
| Drd3 |
G |
A |
16: 43,643,077 (GRCm39) |
V438M |
probably damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,057,858 (GRCm39) |
I70T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,639,057 (GRCm39) |
K1082E |
probably damaging |
Het |
| Fbxw10 |
A |
C |
11: 62,750,671 (GRCm39) |
D428A |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,538,198 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,610,834 (GRCm39) |
T995A |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,402,901 (GRCm39) |
I82F |
probably damaging |
Het |
| Gpatch4 |
T |
A |
3: 87,958,583 (GRCm39) |
H22Q |
probably damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,225 (GRCm39) |
F119L |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,290,723 (GRCm39) |
L425* |
probably null |
Het |
| Knstrn |
T |
A |
2: 118,661,461 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,724,335 (GRCm39) |
I144L |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,377,463 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
T |
C |
6: 113,243,213 (GRCm39) |
|
probably benign |
Het |
| Nsmce4a |
A |
T |
7: 130,135,536 (GRCm39) |
S345R |
probably benign |
Het |
| Oacyl |
T |
A |
18: 65,875,290 (GRCm39) |
V385D |
probably damaging |
Het |
| Or6k8-ps1 |
G |
A |
1: 173,979,696 (GRCm39) |
A205T |
probably benign |
Het |
| Or8b52 |
A |
T |
9: 38,576,808 (GRCm39) |
C111S |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 110,603,603 (GRCm39) |
S55P |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,390,150 (GRCm39) |
V1422E |
possibly damaging |
Het |
| Plcd3 |
T |
G |
11: 102,971,013 (GRCm39) |
H181P |
probably benign |
Het |
| Psmc5 |
G |
A |
11: 106,151,990 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,361,515 (GRCm39) |
|
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,598,016 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,440,806 (GRCm39) |
E93G |
probably damaging |
Het |
| Rtp3 |
T |
C |
9: 110,816,152 (GRCm39) |
E133G |
possibly damaging |
Het |
| Serpina1e |
A |
C |
12: 103,915,363 (GRCm39) |
L281R |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tent5c |
A |
G |
3: 100,379,686 (GRCm39) |
Y357H |
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,659 (GRCm39) |
E332V |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,745,990 (GRCm39) |
T312A |
probably damaging |
Het |
| Traf3ip3 |
G |
T |
1: 192,877,119 (GRCm39) |
|
probably benign |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,622 (GRCm39) |
R96H |
probably benign |
Het |
| Vmn1r7 |
T |
A |
6: 57,001,450 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,240,714 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,988 (GRCm39) |
E502V |
probably damaging |
Het |
| Wipf3 |
C |
A |
6: 54,462,348 (GRCm39) |
P186Q |
probably damaging |
Het |
| Yipf5 |
A |
T |
18: 40,345,215 (GRCm39) |
M55K |
probably benign |
Het |
| Zbtb7a |
G |
A |
10: 80,979,820 (GRCm39) |
V5M |
probably damaging |
Het |
| Zfy1 |
G |
T |
Y: 726,040 (GRCm39) |
S575Y |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAGCTGAACTTCACCATGC -3'
(R):5'- ACAGATGCTGAGTCCTGCCTTTCC -3'
Sequencing Primer
(F):5'- TGAACTTCACCATGCACAATG -3'
(R):5'- TGTGCTCAGGAGAAAATTCCAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation