Incidental Mutation 'R3522:Trappc11'
ID |
267550 |
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 # |
R3522 (G1)
|
Quality Score |
216 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47951708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 982
(Y982N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
AlphaFold |
B2RXC1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039061
AA Change: Y982N
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000047562 Gene: ENSMUSG00000038102 AA Change: Y982N
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
|
Meta Mutation Damage Score |
0.9078 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (72/72) |
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 |
Ankrd35 |
A |
G |
3: 96,592,378 (GRCm39) |
E888G |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,004,918 (GRCm39) |
F150S |
probably damaging |
Het |
Atp10d |
G |
T |
5: 72,396,500 (GRCm39) |
R235L |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,653,055 (GRCm39) |
V2A |
possibly damaging |
Het |
Cand1 |
A |
T |
10: 119,075,102 (GRCm39) |
L15Q |
probably benign |
Het |
Cavin3 |
C |
A |
7: 105,130,350 (GRCm39) |
G154V |
probably benign |
Het |
Ccdc73 |
A |
T |
2: 104,821,830 (GRCm39) |
D593V |
probably damaging |
Het |
Cdk5rap2 |
T |
C |
4: 70,168,647 (GRCm39) |
K161E |
probably damaging |
Het |
Chil4 |
A |
T |
3: 106,111,056 (GRCm39) |
N279K |
probably benign |
Het |
Chst13 |
T |
G |
6: 90,295,245 (GRCm39) |
D56A |
probably damaging |
Het |
Cnn1 |
C |
A |
9: 22,010,664 (GRCm39) |
H5N |
probably benign |
Het |
Cpsf4l |
T |
A |
11: 113,593,319 (GRCm39) |
K88N |
probably damaging |
Het |
Ctnnbl1 |
G |
T |
2: 157,713,113 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
C |
1: 53,657,275 (GRCm39) |
F834V |
probably damaging |
Het |
Fbxo41 |
A |
G |
6: 85,461,163 (GRCm39) |
S182P |
probably benign |
Het |
Fkbp5 |
T |
C |
17: 28,634,970 (GRCm39) |
T180A |
probably benign |
Het |
Flg2 |
T |
A |
3: 93,127,334 (GRCm39) |
I2082N |
unknown |
Het |
Gm4968 |
A |
G |
6: 127,210,725 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 116,761,747 (GRCm39) |
H612Q |
probably benign |
Het |
Gsg1 |
A |
T |
6: 135,218,251 (GRCm39) |
V212D |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,651,430 (GRCm39) |
V1111A |
probably damaging |
Het |
Hormad1 |
A |
T |
3: 95,483,596 (GRCm39) |
Q136L |
probably benign |
Het |
Ifi35 |
T |
A |
11: 101,348,511 (GRCm39) |
S147R |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,754,624 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
C |
T |
3: 87,998,089 (GRCm39) |
A282V |
probably null |
Het |
Jmy |
T |
C |
13: 93,590,558 (GRCm39) |
D515G |
probably damaging |
Het |
Kctd10 |
G |
A |
5: 114,512,984 (GRCm39) |
R64C |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,040,757 (GRCm39) |
V121A |
probably damaging |
Het |
Lcn3 |
G |
A |
2: 25,656,133 (GRCm39) |
V63M |
possibly damaging |
Het |
Lmx1b |
T |
A |
2: 33,529,543 (GRCm39) |
Y72F |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,389,424 (GRCm39) |
D3164G |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,758,927 (GRCm39) |
V222M |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,958,702 (GRCm39) |
|
probably benign |
Het |
Myo7b |
C |
A |
18: 32,143,132 (GRCm39) |
V189F |
probably damaging |
Het |
Ndc1 |
T |
C |
4: 107,250,355 (GRCm39) |
S533P |
probably damaging |
Het |
Ndrg3 |
T |
C |
2: 156,785,947 (GRCm39) |
D164G |
probably damaging |
Het |
Nol11 |
C |
T |
11: 107,064,454 (GRCm39) |
C500Y |
possibly damaging |
Het |
Nsd3 |
A |
G |
8: 26,196,642 (GRCm39) |
N1208D |
probably benign |
Het |
Nup155 |
C |
T |
15: 8,186,162 (GRCm39) |
|
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,347 (GRCm39) |
C308S |
probably benign |
Het |
Or6c38 |
A |
G |
10: 128,929,711 (GRCm39) |
I44T |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,081 (GRCm39) |
T18A |
probably damaging |
Het |
Or8b54 |
A |
T |
9: 38,687,016 (GRCm39) |
D155V |
possibly damaging |
Het |
Phf3 |
A |
G |
1: 30,844,684 (GRCm39) |
L1425P |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,279,250 (GRCm39) |
Y777H |
probably damaging |
Het |
Pld1 |
A |
G |
3: 28,085,396 (GRCm39) |
E184G |
probably damaging |
Het |
Plxna1 |
T |
C |
6: 89,314,335 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
T |
C |
3: 100,950,718 (GRCm39) |
E865G |
probably damaging |
Het |
Ptpn13 |
G |
T |
5: 103,737,720 (GRCm39) |
|
probably benign |
Het |
Pygb |
G |
T |
2: 150,670,473 (GRCm39) |
V763F |
probably benign |
Het |
Ros1 |
A |
C |
10: 51,967,091 (GRCm39) |
Y1705* |
probably null |
Het |
Sec61a2 |
A |
G |
2: 5,898,027 (GRCm39) |
F5L |
probably benign |
Het |
Skint5 |
A |
G |
4: 113,614,102 (GRCm39) |
|
probably null |
Het |
Sntg2 |
A |
G |
12: 30,362,566 (GRCm39) |
V60A |
probably damaging |
Het |
Sppl2a |
A |
G |
2: 126,762,242 (GRCm39) |
C280R |
possibly damaging |
Het |
Srrm4 |
A |
C |
5: 116,584,603 (GRCm39) |
M1R |
probably null |
Het |
Sult1c2 |
T |
C |
17: 54,279,043 (GRCm39) |
E91G |
probably damaging |
Het |
Themis2 |
C |
G |
4: 132,512,906 (GRCm39) |
R440P |
probably damaging |
Het |
Tmem229a |
A |
G |
6: 24,955,058 (GRCm39) |
L232P |
probably benign |
Het |
Trappc1 |
T |
C |
11: 69,215,248 (GRCm39) |
F43L |
probably damaging |
Het |
Trpv6 |
A |
T |
6: 41,604,339 (GRCm39) |
M139K |
probably damaging |
Het |
Txnrd3 |
A |
G |
6: 89,640,057 (GRCm39) |
|
probably null |
Het |
Vmn1r184 |
T |
A |
7: 25,967,008 (GRCm39) |
Y251* |
probably null |
Het |
Vmn1r216 |
A |
G |
13: 23,283,544 (GRCm39) |
N76D |
possibly damaging |
Het |
Vmn1r71 |
C |
A |
7: 10,481,792 (GRCm39) |
V233F |
probably benign |
Het |
Vps13a |
A |
C |
19: 16,743,857 (GRCm39) |
|
probably benign |
Het |
Vwa5b2 |
A |
G |
16: 20,420,358 (GRCm39) |
S756G |
probably damaging |
Het |
Wdr36 |
T |
A |
18: 32,994,538 (GRCm39) |
|
probably null |
Het |
Wdr86 |
A |
G |
5: 24,923,305 (GRCm39) |
V129A |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,576,940 (GRCm39) |
L47S |
probably benign |
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 |
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'- GAAGTCTCACTGGCATTTCAGTC -3'
(R):5'- GAGCCTTGGCTTGTAAGAACAG -3'
Sequencing Primer
(F):5'- CAGTCAGAAATTGTGTCAAACCAAG -3'
(R):5'- CTTGGCTTGTAAGAACAGTTCATTTG -3'
|
Posted On |
2015-02-18 |