Incidental Mutation 'R8782:Trappc11'
| ID |
670328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trappc11
|
| Ensembl Gene |
ENSMUSG00000038102 |
| Gene Name |
trafficking protein particle complex 11 |
| Synonyms |
D030016E14Rik |
| MMRRC Submission |
068630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8782 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
47943163-47986505 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47951701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 984
(I984N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039061]
|
| AlphaFold |
B2RXC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039061
AA Change: I984N
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047562
Gene: ENSMUSG00000038102
AA Change: I984N
| 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 |
|
| Meta Mutation Damage Score |
0.8929 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
G |
9: 55,910,242 (GRCm39) |
|
probably null |
Het |
| Abhd16b |
G |
T |
2: 181,136,208 (GRCm39) |
R370L |
probably benign |
Het |
| Acox2 |
T |
A |
14: 8,250,035 (GRCm38) |
T342S |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,678 (GRCm39) |
Q329L |
probably damaging |
Het |
| Aimp1 |
T |
C |
3: 132,373,242 (GRCm39) |
M233V |
possibly damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,714,010 (GRCm39) |
T474A |
possibly damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,533 (GRCm39) |
T57A |
possibly damaging |
Het |
| Bcat2 |
A |
G |
7: 45,234,917 (GRCm39) |
D205G |
probably benign |
Het |
| Brd1 |
G |
T |
15: 88,614,834 (GRCm39) |
C20* |
probably null |
Het |
| Camsap2 |
T |
C |
1: 136,204,957 (GRCm39) |
M519V |
|
Het |
| Caprin1 |
T |
A |
2: 103,603,133 (GRCm39) |
T477S |
probably benign |
Het |
| Cdk5rap2 |
G |
T |
4: 70,161,712 (GRCm39) |
Q1516K |
possibly damaging |
Het |
| Cep97 |
T |
C |
16: 55,726,084 (GRCm39) |
D673G |
probably benign |
Het |
| Chat |
A |
T |
14: 32,146,155 (GRCm39) |
D339E |
probably benign |
Het |
| Col28a1 |
G |
A |
6: 8,175,227 (GRCm39) |
S207F |
unknown |
Het |
| Commd10 |
T |
A |
18: 47,096,809 (GRCm39) |
L72Q |
probably damaging |
Het |
| Crim1 |
T |
C |
17: 78,508,306 (GRCm39) |
C37R |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,811,307 (GRCm39) |
K454N |
probably damaging |
Het |
| Ctif |
G |
T |
18: 75,654,868 (GRCm39) |
H219Q |
probably benign |
Het |
| Ddx10 |
A |
T |
9: 53,146,588 (GRCm39) |
F211L |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,473,538 (GRCm39) |
I66F |
possibly damaging |
Het |
| Dmtf1 |
A |
T |
5: 9,179,168 (GRCm39) |
D343E |
probably damaging |
Het |
| Dync2i1 |
C |
T |
12: 116,205,332 (GRCm39) |
R419H |
probably damaging |
Het |
| Fam120b |
A |
T |
17: 15,622,472 (GRCm39) |
Q150L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,095,033 (GRCm39) |
P242L |
probably benign |
Het |
| Gcnt2 |
A |
G |
13: 41,072,229 (GRCm39) |
T291A |
probably damaging |
Het |
| Gm14305 |
T |
G |
2: 176,413,213 (GRCm39) |
C368W |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,404,149 (GRCm39) |
D307G |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,777,663 (GRCm39) |
M261V |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,636 (GRCm39) |
M2891T |
probably benign |
Het |
| Ighv1-31 |
A |
T |
12: 114,793,305 (GRCm39) |
W5R |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,079,818 (GRCm39) |
T541A |
probably damaging |
Het |
| Ints1 |
A |
T |
5: 139,744,952 (GRCm39) |
L1452Q |
probably benign |
Het |
| Kcnc2 |
T |
A |
10: 112,292,437 (GRCm39) |
S542T |
probably benign |
Het |
| Kif18a |
C |
T |
2: 109,127,118 (GRCm39) |
R351C |
probably damaging |
Het |
| Lactbl1 |
T |
G |
4: 136,358,329 (GRCm39) |
L100R |
possibly damaging |
Het |
| Loxl3 |
T |
C |
6: 83,025,051 (GRCm39) |
S260P |
probably benign |
Het |
| Lrba |
A |
T |
3: 86,549,976 (GRCm39) |
Y2315F |
probably benign |
Het |
| Lrrc32 |
A |
T |
7: 98,148,270 (GRCm39) |
N350I |
probably damaging |
Het |
| Lyn |
C |
A |
4: 3,783,055 (GRCm39) |
F429L |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,294 (GRCm39) |
K402E |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,485,845 (GRCm39) |
E121G |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,299 (GRCm39) |
L173P |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,298,496 (GRCm39) |
T369A |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,187,357 (GRCm39) |
L1308P |
possibly damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,459,873 (GRCm39) |
D1895G |
probably benign |
Het |
| Ncr1 |
A |
G |
7: 4,340,763 (GRCm39) |
T6A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,078,785 (GRCm39) |
E5819D |
probably benign |
Het |
| Neurod4 |
T |
C |
10: 130,106,948 (GRCm39) |
N109D |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,000,485 (GRCm39) |
M1L |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,882,540 (GRCm39) |
Y64C |
probably damaging |
Het |
| Olfm2 |
T |
A |
9: 20,579,501 (GRCm39) |
N417Y |
probably damaging |
Het |
| Oog3 |
T |
A |
4: 143,885,962 (GRCm39) |
D212V |
probably benign |
Het |
| Or13c25 |
T |
A |
4: 52,911,693 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,296 (GRCm39) |
H65L |
probably damaging |
Het |
| Parp1 |
A |
G |
1: 180,417,127 (GRCm39) |
K637R |
probably benign |
Het |
| Pcdhga3 |
T |
C |
18: 37,807,865 (GRCm39) |
L106P |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,494,962 (GRCm39) |
N67S |
possibly damaging |
Het |
| Plcxd3 |
A |
G |
15: 4,546,250 (GRCm39) |
T85A |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,220 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,719,025 (GRCm39) |
M108K |
probably damaging |
Het |
| Pou3f1 |
GCACCACCACCACCACCAC |
GCACCACCACCACCAC |
4: 124,552,807 (GRCm39) |
|
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,758,011 (GRCm39) |
C233S |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,056,616 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
T |
5: 35,871,548 (GRCm39) |
M328K |
possibly damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,580,798 (GRCm39) |
Y169H |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,442 (GRCm39) |
D532G |
probably damaging |
Het |
| Speer4a1 |
T |
A |
5: 26,241,754 (GRCm39) |
H124L |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,735,685 (GRCm39) |
T1299S |
probably benign |
Het |
| Tesmin |
T |
C |
19: 3,445,965 (GRCm39) |
V237A |
probably benign |
Het |
| Ube2q2 |
G |
A |
9: 55,070,354 (GRCm39) |
|
probably null |
Het |
| Vmn1r169 |
A |
G |
7: 23,277,403 (GRCm39) |
D265G |
possibly damaging |
Het |
| Vps13b |
G |
T |
15: 35,422,483 (GRCm39) |
V148L |
possibly damaging |
Het |
| Vwce |
T |
C |
19: 10,615,491 (GRCm39) |
V124A |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,787 (GRCm39) |
R292H |
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 |
|
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 |
|
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'- AGCCTTGGCTTGTAAGAACAG -3'
Sequencing Primer
(F):5'- CAGTCAGAAATTGTGTCAAACCAAG -3'
(R):5'- CTTGGCTTGTAAGAACAGTTCATTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation