Incidental Mutation 'R5294:Trappc11'
| ID |
405307 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47490115-47533470 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 47530731 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glycine
at position 42
(A42G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033973]
[ENSMUST00000039061]
[ENSMUST00000175692]
[ENSMUST00000176379]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033973
|
| SMART Domains |
Protein: ENSMUSP00000033973
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
low complexity region
|
131 |
153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: A42G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: A42G
| 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: ENSMUST00000125065
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175692
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176379
|
| SMART Domains |
Protein: ENSMUSP00000135059
Gene: ENSMUSG00000031568
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
9 |
111 |
1.07e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.1620 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,152,003 (GRCm38) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,391,519 (GRCm38) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,241,952 (GRCm38) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,811,157 (GRCm38) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,185,124 (GRCm38) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,691,055 (GRCm38) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,402,705 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,516,439 (GRCm38) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,988,048 (GRCm38) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,628,766 (GRCm38) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,978,602 (GRCm38) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,947,900 (GRCm38) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,878,981 (GRCm38) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,610,440 (GRCm38) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,161,116 (GRCm38) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 19,966,316 (GRCm38) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,873,483 (GRCm38) |
M52K |
possibly damaging |
Het |
| Dars |
A |
T |
1: 128,364,302 (GRCm38) |
F480I |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,897,580 (GRCm38) |
M274V |
unknown |
Het |
| Diaph1 |
C |
A |
18: 37,897,550 (GRCm38) |
E284* |
probably null |
Het |
| Dock8 |
G |
A |
19: 25,061,153 (GRCm38) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,211,430 (GRCm38) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,496,439 (GRCm38) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,436,644 (GRCm38) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,997,500 (GRCm38) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,570,036 (GRCm38) |
S91N |
possibly damaging |
Het |
| Gm884 |
A |
G |
11: 103,616,231 (GRCm38) |
|
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,255,710 (GRCm38) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,834,792 (GRCm38) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 105,523,297 (GRCm38) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,707,336 (GRCm38) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,121,832 (GRCm38) |
Y123* |
probably null |
Het |
| Mis18bp1 |
A |
C |
12: 65,157,043 (GRCm38) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,409,873 (GRCm38) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,427,794 (GRCm38) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,400,800 (GRCm38) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,517,506 (GRCm38) |
|
probably null |
Het |
| Olfr248 |
A |
T |
1: 174,391,225 (GRCm38) |
Y52F |
probably benign |
Het |
| Olfr692 |
C |
T |
7: 105,368,413 (GRCm38) |
T20I |
probably benign |
Het |
| Olfr748 |
A |
G |
14: 50,710,779 (GRCm38) |
I150V |
probably benign |
Het |
| Olfr748 |
A |
G |
14: 50,710,443 (GRCm38) |
T38A |
possibly damaging |
Het |
| Otud4 |
A |
T |
8: 79,672,892 (GRCm38) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,115,568 (GRCm38) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 32,021,830 (GRCm38) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,639,000 (GRCm38) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,728,111 (GRCm38) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,717,849 (GRCm38) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,668,893 (GRCm38) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,478,668 (GRCm38) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,057,985 (GRCm38) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 108,064,003 (GRCm38) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 36,947,200 (GRCm38) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,425,938 (GRCm38) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 119,494,289 (GRCm38) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,956,310 (GRCm38) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,718,908 (GRCm38) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,008,218 (GRCm38) |
F74L |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,472,488 (GRCm38) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,773,414 (GRCm38) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,777,190 (GRCm38) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,362,357 (GRCm38) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,651,864 (GRCm38) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,455,113 (GRCm38) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,069,754 (GRCm38) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,641,667 (GRCm38) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,071,033 (GRCm38) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,236,922 (GRCm38) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,901,241 (GRCm38) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,600,980 (GRCm38) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,979,577 (GRCm38) |
D686G |
possibly damaging |
Het |
|
| Other mutations in Trappc11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Trappc11
|
APN |
8 |
47,503,302 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01300:Trappc11
|
APN |
8 |
47,501,868 (GRCm38) |
missense |
probably benign |
|
|
IGL01312:Trappc11
|
APN |
8 |
47,505,677 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01344:Trappc11
|
APN |
8 |
47,519,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01518:Trappc11
|
APN |
8 |
47,501,869 (GRCm38) |
splice site |
probably null |
|
|
IGL01747:Trappc11
|
APN |
8 |
47,519,621 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL01781:Trappc11
|
APN |
8 |
47,514,128 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01908:Trappc11
|
APN |
8 |
47,503,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01956:Trappc11
|
APN |
8 |
47,528,001 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02266:Trappc11
|
APN |
8 |
47,505,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02377:Trappc11
|
APN |
8 |
47,530,650 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02530:Trappc11
|
APN |
8 |
47,507,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02676:Trappc11
|
APN |
8 |
47,493,413 (GRCm38) |
splice site |
probably benign |
|
|
IGL03030:Trappc11
|
APN |
8 |
47,513,929 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03393:Trappc11
|
APN |
8 |
47,510,877 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
bantu
|
UTSW |
8 |
47,498,666 (GRCm38) |
missense |
probably benign |
0.44 |
|
bunyoro
|
UTSW |
8 |
47,512,285 (GRCm38) |
splice site |
probably null |
|
|
nyoro
|
UTSW |
8 |
47,526,979 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
serval
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0009:Trappc11
|
UTSW |
8 |
47,503,320 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0009:Trappc11
|
UTSW |
8 |
47,503,320 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0043:Trappc11
|
UTSW |
8 |
47,505,575 (GRCm38) |
splice site |
probably benign |
|
|
R0180:Trappc11
|
UTSW |
8 |
47,527,974 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0529:Trappc11
|
UTSW |
8 |
47,526,979 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0538:Trappc11
|
UTSW |
8 |
47,503,412 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0740:Trappc11
|
UTSW |
8 |
47,524,588 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1352:Trappc11
|
UTSW |
8 |
47,525,046 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R1469:Trappc11
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Trappc11
|
UTSW |
8 |
47,503,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1502:Trappc11
|
UTSW |
8 |
47,530,827 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1589:Trappc11
|
UTSW |
8 |
47,501,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1741:Trappc11
|
UTSW |
8 |
47,529,327 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2292:Trappc11
|
UTSW |
8 |
47,505,736 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2303:Trappc11
|
UTSW |
8 |
47,503,416 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2931:Trappc11
|
UTSW |
8 |
47,503,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3522:Trappc11
|
UTSW |
8 |
47,498,673 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3714:Trappc11
|
UTSW |
8 |
47,505,316 (GRCm38) |
intron |
probably benign |
|
|
R3739:Trappc11
|
UTSW |
8 |
47,514,103 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4165:Trappc11
|
UTSW |
8 |
47,524,968 (GRCm38) |
splice site |
probably benign |
|
|
R4581:Trappc11
|
UTSW |
8 |
47,493,345 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4598:Trappc11
|
UTSW |
8 |
47,513,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4939:Trappc11
|
UTSW |
8 |
47,519,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4990:Trappc11
|
UTSW |
8 |
47,490,895 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4994:Trappc11
|
UTSW |
8 |
47,522,441 (GRCm38) |
nonsense |
probably null |
|
|
R5091:Trappc11
|
UTSW |
8 |
47,512,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5123:Trappc11
|
UTSW |
8 |
47,513,402 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5176:Trappc11
|
UTSW |
8 |
47,510,963 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5279:Trappc11
|
UTSW |
8 |
47,505,304 (GRCm38) |
intron |
probably benign |
|
|
R5293:Trappc11
|
UTSW |
8 |
47,493,342 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5661:Trappc11
|
UTSW |
8 |
47,512,607 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5838:Trappc11
|
UTSW |
8 |
47,512,559 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5889:Trappc11
|
UTSW |
8 |
47,519,578 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5952:Trappc11
|
UTSW |
8 |
47,496,917 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5959:Trappc11
|
UTSW |
8 |
47,501,558 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6239:Trappc11
|
UTSW |
8 |
47,529,494 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6322:Trappc11
|
UTSW |
8 |
47,530,773 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6369:Trappc11
|
UTSW |
8 |
47,512,285 (GRCm38) |
splice site |
probably null |
|
|
R7541:Trappc11
|
UTSW |
8 |
47,505,582 (GRCm38) |
splice site |
probably null |
|
|
R7544:Trappc11
|
UTSW |
8 |
47,522,414 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7762:Trappc11
|
UTSW |
8 |
47,522,376 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7964:Trappc11
|
UTSW |
8 |
47,526,944 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R8183:Trappc11
|
UTSW |
8 |
47,529,356 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8282:Trappc11
|
UTSW |
8 |
47,516,589 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8733:Trappc11
|
UTSW |
8 |
47,501,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8782:Trappc11
|
UTSW |
8 |
47,498,666 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8853:Trappc11
|
UTSW |
8 |
47,529,404 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9544:Trappc11
|
UTSW |
8 |
47,519,678 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9709:Trappc11
|
UTSW |
8 |
47,493,313 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGGGTTTTATAGCACAC -3'
(R):5'- GAAAACTGAGTACAACCTTTTCTGTG -3'
Sequencing Primer
(F):5'- GGGTTTTATAGCACACATAATTGGG -3'
(R):5'- CAAAGCCTTTTGTCTTTTTGCAGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation