Incidental Mutation 'R4990:Trappc11'
| ID |
386128 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
042584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4990 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47943930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1127
(D1127E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039061
AA Change: D1127E
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: D1127E
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,334,098 (GRCm39) |
I1135V |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,911,388 (GRCm39) |
R1324K |
probably benign |
Het |
| Amer3 |
A |
C |
1: 34,627,822 (GRCm39) |
D687A |
probably benign |
Het |
| Aplnr |
G |
A |
2: 84,967,721 (GRCm39) |
V249M |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,717,091 (GRCm39) |
K471R |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,568,886 (GRCm39) |
|
probably null |
Het |
| Catspere2 |
A |
C |
1: 177,925,987 (GRCm39) |
I218L |
probably benign |
Het |
| Ccdc152 |
A |
G |
15: 3,330,639 (GRCm39) |
I12T |
probably benign |
Het |
| Cds1 |
A |
G |
5: 101,946,245 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,962,401 (GRCm39) |
L1989Q |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,243,434 (GRCm39) |
Q1674R |
probably damaging |
Het |
| D930020B18Rik |
C |
G |
10: 121,490,666 (GRCm39) |
P89A |
probably damaging |
Het |
| D930020B18Rik |
C |
T |
10: 121,490,667 (GRCm39) |
P89L |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,586,078 (GRCm39) |
M535V |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,715 (GRCm39) |
V398A |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,526,689 (GRCm39) |
F413S |
probably damaging |
Het |
| Emb |
T |
A |
13: 117,401,046 (GRCm39) |
N198K |
probably damaging |
Het |
| Eno3 |
A |
G |
11: 70,549,473 (GRCm39) |
D98G |
probably damaging |
Het |
| Fbp1 |
C |
T |
13: 63,012,888 (GRCm39) |
V102I |
probably benign |
Het |
| Fbxw18 |
T |
C |
9: 109,517,461 (GRCm39) |
E414G |
probably damaging |
Het |
| Grem2 |
A |
G |
1: 174,664,379 (GRCm39) |
C157R |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,063,609 (GRCm39) |
V239I |
probably damaging |
Het |
| Hnrnpr |
A |
G |
4: 136,056,690 (GRCm39) |
E230G |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,997,395 (GRCm39) |
I688K |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,413,626 (GRCm39) |
R32L |
probably benign |
Het |
| Kcnh7 |
T |
C |
2: 62,564,632 (GRCm39) |
N876D |
probably benign |
Het |
| Klk1b26 |
T |
A |
7: 43,665,673 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
T |
2: 69,311,732 (GRCm39) |
T2582K |
probably benign |
Het |
| Lrriq1 |
A |
G |
10: 103,036,420 (GRCm39) |
I911T |
probably damaging |
Het |
| Megf6 |
A |
G |
4: 154,351,683 (GRCm39) |
E1132G |
possibly damaging |
Het |
| Mesp1 |
A |
G |
7: 79,442,669 (GRCm39) |
Y203H |
probably damaging |
Het |
| Ms4a4a |
T |
C |
19: 11,356,201 (GRCm39) |
S29P |
probably benign |
Het |
| Nbeal2 |
A |
C |
9: 110,463,871 (GRCm39) |
C1174G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,145,558 (GRCm39) |
V2989I |
probably benign |
Het |
| Nkx2-1 |
T |
C |
12: 56,581,724 (GRCm39) |
Y41C |
possibly damaging |
Het |
| Nrxn3 |
T |
A |
12: 89,227,244 (GRCm39) |
I293N |
probably damaging |
Het |
| Nt5e |
A |
G |
9: 88,237,646 (GRCm39) |
N192S |
probably benign |
Het |
| Ntng1 |
A |
T |
3: 110,042,577 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
G |
A |
7: 140,271,360 (GRCm39) |
E181K |
probably damaging |
Het |
| Or3a1d |
A |
G |
11: 74,238,023 (GRCm39) |
I129T |
probably damaging |
Het |
| Or4c110 |
A |
T |
2: 88,831,816 (GRCm39) |
I272K |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,113,671 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,921,513 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,161,215 (GRCm39) |
I233T |
possibly damaging |
Het |
| Pgm3 |
T |
A |
9: 86,440,465 (GRCm39) |
I409F |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,630,397 (GRCm39) |
Y645H |
probably benign |
Het |
| Pon3 |
T |
C |
6: 5,221,619 (GRCm39) |
H337R |
probably benign |
Het |
| Rasa2 |
A |
G |
9: 96,474,042 (GRCm39) |
I162T |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,299,161 (GRCm39) |
I845V |
probably benign |
Het |
| Rpl4 |
T |
C |
9: 64,082,167 (GRCm39) |
V22A |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,740,318 (GRCm39) |
N531S |
probably damaging |
Het |
| Ryr3 |
G |
T |
2: 112,466,122 (GRCm39) |
Q4746K |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,228 (GRCm39) |
F571I |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,416,841 (GRCm39) |
V761A |
probably benign |
Het |
| Sec22b |
T |
G |
3: 97,828,427 (GRCm39) |
|
probably null |
Het |
| Slc45a2 |
A |
G |
15: 11,001,236 (GRCm39) |
M112V |
probably benign |
Het |
| Snai3 |
G |
A |
8: 123,183,071 (GRCm39) |
T158M |
possibly damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,965 (GRCm39) |
N388D |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,381 (GRCm39) |
E138V |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,767,470 (GRCm39) |
N642S |
possibly damaging |
Het |
| Svil |
T |
A |
18: 5,056,810 (GRCm39) |
I561K |
probably benign |
Het |
| Triobp |
C |
A |
15: 78,851,205 (GRCm39) |
A453D |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,448,665 (GRCm39) |
L295P |
probably damaging |
Het |
| Ulk4 |
C |
T |
9: 121,021,852 (GRCm39) |
V620I |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,026,675 (GRCm39) |
I442T |
probably benign |
Het |
| Wwc1 |
T |
C |
11: 35,767,393 (GRCm39) |
T413A |
probably benign |
Het |
| Zfp131 |
A |
C |
13: 120,244,449 (GRCm39) |
V77G |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,607 (GRCm39) |
D137G |
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 |
|
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 |
|
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'- CAACCATGAGTTCCTCTGAGCAG -3'
(R):5'- CCCCATTTTACACAGTGGCTG -3'
Sequencing Primer
(F):5'- CTCTGAGCAGCTGGTATTATGTCC -3'
(R):5'- CTGTGAGGATCTGTGGAGAGCAC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation