Incidental Mutation 'R0180:Trappc11'
| ID |
23823 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 47981009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 144
(T144K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: T144K
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: T144K
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 89.5%
|
| Validation Efficiency |
77% (53/69) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,630,003 (GRCm39) |
N24Y |
probably damaging |
Het |
| 2810408A11Rik |
A |
T |
11: 69,789,702 (GRCm39) |
M311K |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,737,982 (GRCm39) |
I119T |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,198 (GRCm39) |
M336V |
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,634,082 (GRCm39) |
F374I |
probably benign |
Het |
| Apob |
C |
T |
12: 8,058,285 (GRCm39) |
Q2256* |
probably null |
Het |
| Arg1 |
T |
C |
10: 24,792,728 (GRCm39) |
I169V |
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
| B3gnt5 |
T |
A |
16: 19,587,850 (GRCm39) |
I23K |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,889,856 (GRCm39) |
|
probably null |
Het |
| Celf3 |
T |
A |
3: 94,392,647 (GRCm39) |
F115L |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,968,559 (GRCm39) |
H984Q |
probably damaging |
Het |
| Col18a1 |
A |
G |
10: 76,932,351 (GRCm39) |
V493A |
probably benign |
Het |
| Col5a2 |
C |
T |
1: 45,450,620 (GRCm39) |
G376S |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,848,890 (GRCm39) |
H356R |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cracr2a |
T |
C |
6: 127,581,037 (GRCm39) |
|
probably null |
Het |
| Ctsr |
T |
C |
13: 61,310,559 (GRCm39) |
H62R |
probably damaging |
Het |
| Cyp4f40 |
G |
T |
17: 32,878,641 (GRCm39) |
W61L |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 66,038,116 (GRCm39) |
H140P |
probably damaging |
Het |
| Dnai7 |
A |
G |
6: 145,128,944 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
T |
G |
2: 32,218,005 (GRCm39) |
I464L |
probably damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,819,916 (GRCm39) |
T1409I |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,713 (GRCm39) |
M297V |
probably benign |
Het |
| Emcn |
A |
T |
3: 137,124,755 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
A |
T |
9: 101,804,703 (GRCm39) |
M905K |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,743,922 (GRCm39) |
Y276C |
probably benign |
Het |
| Fermt3 |
C |
A |
19: 6,979,711 (GRCm39) |
S474I |
possibly damaging |
Het |
| Frg1 |
T |
A |
8: 41,852,105 (GRCm39) |
|
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,274,161 (GRCm39) |
S1732P |
probably benign |
Het |
| Gbp8 |
A |
C |
5: 105,179,142 (GRCm39) |
L119R |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,078,217 (GRCm39) |
A927T |
possibly damaging |
Het |
| Gm8836 |
T |
A |
6: 70,237,389 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
T |
4: 135,281,841 (GRCm39) |
V344I |
probably benign |
Het |
| Hhipl1 |
T |
A |
12: 108,294,329 (GRCm39) |
L745H |
probably damaging |
Het |
| Ido1 |
T |
C |
8: 25,083,156 (GRCm39) |
I90V |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,403,407 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
G |
4: 149,298,116 (GRCm39) |
S1029R |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,738,148 (GRCm39) |
|
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,698,115 (GRCm39) |
N215D |
probably damaging |
Het |
| Lims2 |
A |
G |
18: 32,089,368 (GRCm39) |
K144E |
probably benign |
Het |
| Mfsd6l |
A |
T |
11: 68,447,371 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,312,450 (GRCm39) |
S546T |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,955,804 (GRCm39) |
|
probably null |
Het |
| Nlrx1 |
G |
A |
9: 44,166,756 (GRCm39) |
H776Y |
possibly damaging |
Het |
| Nptxr |
T |
C |
15: 79,678,604 (GRCm39) |
M228V |
probably benign |
Het |
| Nsf |
T |
A |
11: 103,821,606 (GRCm39) |
L13F |
probably damaging |
Het |
| Nyap1 |
T |
C |
5: 137,736,283 (GRCm39) |
E68G |
probably damaging |
Het |
| Or10p22 |
A |
T |
10: 128,826,703 (GRCm39) |
R307S |
possibly damaging |
Het |
| Or51r1 |
A |
G |
7: 102,228,239 (GRCm39) |
Y179C |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,535,307 (GRCm39) |
N434D |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,793,127 (GRCm39) |
D313G |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,529,299 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
C |
1: 135,814,538 (GRCm39) |
K261R |
probably benign |
Het |
| Pnpla6 |
A |
G |
8: 3,574,250 (GRCm39) |
|
probably null |
Het |
| Polr3b |
A |
G |
10: 84,458,379 (GRCm39) |
T17A |
probably benign |
Het |
| Ppt2 |
A |
T |
17: 34,845,477 (GRCm39) |
M98K |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,618,379 (GRCm39) |
D142G |
probably benign |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Rhbdf1 |
A |
T |
11: 32,160,042 (GRCm39) |
V153D |
possibly damaging |
Het |
| Slc6a3 |
C |
T |
13: 73,710,455 (GRCm39) |
T355M |
probably damaging |
Het |
| Snrnp35 |
A |
T |
5: 124,628,883 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,311,189 (GRCm39) |
I37N |
probably damaging |
Het |
| Tecta |
G |
T |
9: 42,278,109 (GRCm39) |
P1133Q |
probably benign |
Het |
| Tmem145 |
A |
G |
7: 25,014,124 (GRCm39) |
I413V |
probably benign |
Het |
| Triml2 |
A |
T |
8: 43,643,346 (GRCm39) |
I223L |
probably benign |
Het |
| Ube2g2 |
T |
A |
10: 77,466,573 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ubqln3 |
A |
G |
7: 103,791,047 (GRCm39) |
Y348H |
probably damaging |
Het |
| Wfs1 |
A |
G |
5: 37,124,372 (GRCm39) |
F840L |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,549,349 (GRCm39) |
I771V |
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp106 |
T |
G |
2: 120,364,356 (GRCm39) |
T684P |
probably damaging |
Het |
| Zfp217 |
A |
T |
2: 169,962,057 (GRCm39) |
L90Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGTACAACAAGCCTCTGTGCC -3'
(R):5'- GCAAGTCATTATGGAATGCAGCCAC -3'
Sequencing Primer
(F):5'- gctcagaggacaactttcagaac -3'
(R):5'- CACAGGCAAAGTTTGCAAGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation