Incidental Mutation 'R5661:Trappc11'
| ID |
444087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
043304-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5661 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 47965642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 528
(D528V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
[ENSMUST00000120987]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039061
AA Change: D528V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: D528V
| 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 |
probably benign
Transcript: ENSMUST00000120987
|
| SMART Domains |
Protein: ENSMUSP00000113779
Gene: ENSMUSG00000038102
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Gryzun
|
1 |
155 |
4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123958
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125065
|
| Meta Mutation Damage Score |
0.1379 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
A |
G |
6: 83,497,754 (GRCm39) |
I166T |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,231,618 (GRCm39) |
E273G |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,212,739 (GRCm39) |
R403H |
possibly damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,285,075 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,702,087 (GRCm39) |
R81* |
probably null |
Het |
| Brd3 |
G |
A |
2: 27,351,584 (GRCm39) |
T223I |
possibly damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,320,492 (GRCm39) |
M890T |
probably benign |
Het |
| Carm1 |
A |
G |
9: 21,498,295 (GRCm39) |
D433G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,753 (GRCm39) |
K427E |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,947,808 (GRCm39) |
Y929H |
probably damaging |
Het |
| Ccr9 |
A |
C |
9: 123,609,164 (GRCm39) |
Y282S |
probably benign |
Het |
| Det1 |
C |
T |
7: 78,492,958 (GRCm39) |
E349K |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,070,406 (GRCm39) |
N834Y |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,946,217 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
T |
2: 62,367,307 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
A |
G |
5: 114,411,053 (GRCm39) |
C23R |
probably benign |
Het |
| Gad1-ps |
T |
C |
10: 99,280,901 (GRCm39) |
|
noncoding transcript |
Het |
| Gli2 |
C |
A |
1: 118,781,032 (GRCm39) |
E238* |
probably null |
Het |
| Gm20939 |
C |
A |
17: 95,183,207 (GRCm39) |
H148N |
probably damaging |
Het |
| Gnl1 |
T |
C |
17: 36,293,447 (GRCm39) |
Y211H |
probably benign |
Het |
| Gpat3 |
A |
T |
5: 101,033,808 (GRCm39) |
K221* |
probably null |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hnrnph1 |
A |
T |
11: 50,275,507 (GRCm39) |
Q415L |
probably benign |
Het |
| Kansl3 |
T |
C |
1: 36,388,038 (GRCm39) |
E383G |
possibly damaging |
Het |
| Kdm5b |
T |
C |
1: 134,526,811 (GRCm39) |
V311A |
probably benign |
Het |
| Lipk |
T |
A |
19: 34,009,727 (GRCm39) |
M215K |
probably benign |
Het |
| Madd |
A |
G |
2: 90,984,778 (GRCm39) |
|
probably null |
Het |
| Meltf |
A |
G |
16: 31,700,744 (GRCm39) |
E88G |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,195,626 (GRCm39) |
S713T |
probably benign |
Het |
| Mocos |
T |
A |
18: 24,799,052 (GRCm39) |
|
probably null |
Het |
| Msto1 |
T |
A |
3: 88,820,192 (GRCm39) |
D88V |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,074,488 (GRCm39) |
Y799C |
probably benign |
Het |
| Nectin4 |
T |
A |
1: 171,212,738 (GRCm39) |
L357H |
probably damaging |
Het |
| Or4p22 |
G |
A |
2: 88,317,441 (GRCm39) |
V122M |
probably damaging |
Het |
| Or6c2 |
A |
T |
10: 129,362,618 (GRCm39) |
H174L |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,779,161 (GRCm39) |
N179S |
probably damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,499 (GRCm39) |
T493K |
probably damaging |
Het |
| Pgk2 |
G |
T |
17: 40,518,287 (GRCm39) |
C380* |
probably null |
Het |
| Pi4k2b |
G |
A |
5: 52,900,906 (GRCm39) |
|
probably null |
Het |
| Plcb3 |
A |
G |
19: 6,940,588 (GRCm39) |
V416A |
probably damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,168,425 (GRCm39) |
G899R |
possibly damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,110,963 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,628,634 (GRCm39) |
E3460K |
possibly damaging |
Het |
| Psmb3 |
A |
G |
11: 97,597,659 (GRCm39) |
E75G |
possibly damaging |
Het |
| Retnlb |
C |
T |
16: 48,638,429 (GRCm39) |
T50I |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,649 (GRCm39) |
S789P |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,136,734 (GRCm39) |
T489I |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,136,791 (GRCm39) |
M508T |
possibly damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
| Terf1 |
T |
A |
1: 15,889,888 (GRCm39) |
V221E |
probably damaging |
Het |
| Trak1 |
A |
G |
9: 121,272,703 (GRCm39) |
N187S |
possibly damaging |
Het |
| Tut4 |
A |
G |
4: 108,370,384 (GRCm39) |
D761G |
probably benign |
Het |
| Vmn1r170 |
A |
G |
7: 23,306,231 (GRCm39) |
N211S |
possibly damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,959,467 (GRCm39) |
W50* |
probably null |
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 |
|
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'- ACAGTCAGGTTCAGGGTCAG -3'
(R):5'- CGGTCATGTTAGAAGCACTTGC -3'
Sequencing Primer
(F):5'- CAGGGCTTTCATTCTGCAATG -3'
(R):5'- GCTAGTCAGCCTGTCATAACTGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation