Incidental Mutation 'R1741:Trappc11'
ID |
200357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trappc11
|
Ensembl Gene |
ENSMUSG00000038102 |
Gene Name |
trafficking protein particle complex 11 |
Synonyms |
D030016E14Rik |
MMRRC Submission |
039773-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1741 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 47982362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
probably null
Transcript: ENSMUST00000039061
|
SMART Domains |
Protein: ENSMUSP00000047562 Gene: ENSMUSG00000038102
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
|
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 |
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034E13Rik |
A |
G |
18: 52,793,578 (GRCm39) |
N37S |
probably damaging |
Het |
Acad10 |
T |
C |
5: 121,785,899 (GRCm39) |
K230R |
probably damaging |
Het |
Actl7a |
A |
G |
4: 56,744,252 (GRCm39) |
N260D |
probably benign |
Het |
Adam24 |
T |
C |
8: 41,132,642 (GRCm39) |
Y37H |
probably benign |
Het |
Ahcy |
G |
A |
2: 154,906,154 (GRCm39) |
A229V |
probably benign |
Het |
Ap3b2 |
A |
G |
7: 81,117,347 (GRCm39) |
V563A |
possibly damaging |
Het |
Bcl9l |
T |
A |
9: 44,420,986 (GRCm39) |
M1427K |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Btg4 |
A |
T |
9: 51,027,910 (GRCm39) |
I27L |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,539,076 (GRCm39) |
Y366C |
probably damaging |
Het |
Chd3 |
A |
G |
11: 69,246,480 (GRCm39) |
Y1085H |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,426,892 (GRCm39) |
D616G |
possibly damaging |
Het |
Crlf1 |
C |
A |
8: 70,953,556 (GRCm39) |
D243E |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,502 (GRCm39) |
V371A |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,091 (GRCm39) |
S534P |
probably damaging |
Het |
Eln |
A |
G |
5: 134,758,038 (GRCm39) |
V185A |
unknown |
Het |
Epor |
C |
T |
9: 21,871,067 (GRCm39) |
G301D |
probably damaging |
Het |
Fam83f |
T |
G |
15: 80,576,468 (GRCm39) |
V373G |
possibly damaging |
Het |
Fbxl21 |
A |
T |
13: 56,684,915 (GRCm39) |
T340S |
probably benign |
Het |
Fcgbpl1 |
G |
T |
7: 27,857,279 (GRCm39) |
C2209F |
probably damaging |
Het |
Fez1 |
T |
A |
9: 36,755,029 (GRCm39) |
D9E |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,820,256 (GRCm39) |
F5330L |
probably benign |
Het |
Glis1 |
G |
A |
4: 107,425,544 (GRCm39) |
R197Q |
probably damaging |
Het |
Gm10277 |
TC |
T |
11: 77,676,828 (GRCm39) |
|
probably null |
Het |
Gpr158 |
A |
G |
2: 21,832,359 (GRCm39) |
N1153S |
probably benign |
Het |
Gramd4 |
T |
C |
15: 85,975,730 (GRCm39) |
|
probably null |
Het |
Hhatl |
T |
A |
9: 121,618,125 (GRCm39) |
Y210F |
possibly damaging |
Het |
Hltf |
T |
C |
3: 20,140,352 (GRCm39) |
W422R |
probably damaging |
Het |
Hspa5 |
T |
C |
2: 34,662,704 (GRCm39) |
S87P |
possibly damaging |
Het |
Il21 |
T |
C |
3: 37,281,811 (GRCm39) |
H111R |
probably benign |
Het |
Ip6k1 |
G |
A |
9: 107,918,183 (GRCm39) |
G73S |
probably benign |
Het |
Kdm5b |
A |
G |
1: 134,545,755 (GRCm39) |
D972G |
possibly damaging |
Het |
Kif21b |
C |
T |
1: 136,083,880 (GRCm39) |
A709V |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,743,115 (GRCm39) |
|
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,511,705 (GRCm39) |
L125P |
probably damaging |
Het |
Mapk8ip3 |
A |
G |
17: 25,118,828 (GRCm39) |
S1169P |
probably damaging |
Het |
Me3 |
A |
T |
7: 89,501,041 (GRCm39) |
Y584F |
probably damaging |
Het |
Mxra7 |
T |
G |
11: 116,707,070 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,334,757 (GRCm39) |
S870P |
probably benign |
Het |
Npr2 |
G |
A |
4: 43,643,350 (GRCm39) |
G525S |
probably damaging |
Het |
Nyap1 |
A |
T |
5: 137,731,387 (GRCm39) |
S726T |
probably damaging |
Het |
Padi4 |
A |
G |
4: 140,473,481 (GRCm39) |
V652A |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,726,524 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
G |
A |
4: 99,822,062 (GRCm39) |
|
probably null |
Het |
Piezo2 |
A |
G |
18: 63,154,244 (GRCm39) |
S2512P |
probably damaging |
Het |
Ptbp3 |
A |
T |
4: 59,482,624 (GRCm39) |
D386E |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Ptpn3 |
A |
G |
4: 57,254,922 (GRCm39) |
V154A |
probably damaging |
Het |
Rassf4 |
T |
C |
6: 116,616,450 (GRCm39) |
E287G |
probably damaging |
Het |
Rnh1 |
C |
T |
7: 140,743,936 (GRCm39) |
R174H |
probably benign |
Het |
Scn9a |
T |
A |
2: 66,317,938 (GRCm39) |
I1517F |
probably damaging |
Het |
Sftpb |
C |
A |
6: 72,282,797 (GRCm39) |
A90E |
probably benign |
Het |
Slc39a14 |
T |
C |
14: 70,556,193 (GRCm39) |
K61R |
probably damaging |
Het |
Tmem132d |
A |
C |
5: 127,861,922 (GRCm39) |
M733R |
probably benign |
Het |
Tmem248 |
A |
G |
5: 130,265,664 (GRCm39) |
I156V |
probably benign |
Het |
Traf2 |
T |
C |
2: 25,414,495 (GRCm39) |
D339G |
probably damaging |
Het |
Tuba8 |
T |
A |
6: 121,199,727 (GRCm39) |
I137N |
possibly damaging |
Het |
Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,314,103 (GRCm39) |
T663A |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,038,431 (GRCm39) |
F669I |
probably damaging |
Het |
Wdr95 |
G |
A |
5: 149,518,861 (GRCm39) |
|
probably null |
Het |
Wfdc8 |
T |
G |
2: 164,450,789 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
A |
C |
2: 168,768,238 (GRCm39) |
V458G |
probably benign |
Het |
Zfp868 |
C |
T |
8: 70,064,519 (GRCm39) |
G272D |
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 |
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'- CTCCAGGCCAACTAGCCTTCTAAATG -3'
(R):5'- TGACCAGCTAACTGTTTCTGTCACG -3'
Sequencing Primer
(F):5'- TTCAAAGGAGGTCAACAATCTCAG -3'
(R):5'- TGTCACGGTTGGCAGAGAAC -3'
|
Posted On |
2014-05-23 |